1986:
259:
75:
107:. SCA is hereditary, progressive, degenerative, and often fatal. There is no known effective treatment or cure. SCA can affect anyone of any age. The disease is caused by either a recessive or dominant gene. In many cases people are not aware that they carry a relevant gene until they have children who begin to show signs of having the disorder. Currently, research is being conducted at Universities, such as the University of Minnesota, to elucidate many of the unknown characteristics of the disease.
275:
2247:
and gait training for ataxia patients. General conditioning such as range-of-motion exercises and muscle strengthening would also be included in therapeutic exercise programmes. Research showed that spinocerebellar ataxia 2 (SCA2) patients with a mild stage of the disease gained significant improvement in static balance and neurological indices after six months of a physical therapy exercise training program.
1831:
2107:
In general, treatments are directed towards alleviating symptoms, not the disease itself. Many patients with hereditary or idiopathic forms of ataxia have other symptoms in addition to ataxia. Medications or other therapies might be appropriate for some of these symptoms, which could include tremor,
2246:
can assist patients in maintaining their level of independence through therapeutic exercise programmes. One recent research report demonstrated a gain of two SARA points (Scale for the
Assessment and Rating of Ataxia) from physical therapy. In general, physical therapy emphasises postural balance
2154:
In addition, Dr. Beverly
Davidson has been working on a methodology using RNAi technology to find a potential cure for over 2 decades. Her research began in the mid-1990s and progressed to work with mouse models about a decade later and most recently has moved to a study with non-human primates.
183:
for which specific genetic information is available are now known. Synonyms for autosomal-dominant cerebellar ataxias (ADCA) used prior to the current understanding of the molecular genetics were Marie's ataxia, inherited olivopontocerebellar atrophy, cerebello-olivary atrophy, or the more generic
321:
The first ataxia gene was identified in 1993 and called "Spinocerebellar ataxia type 1" (SCA1); later genes were called SCA2, SCA3, etc. Usually, the "type" number of "SCA" refers to the order in which the gene was found. At this time, there are at least 49 different gene mutations that have been
2263:
revealed that an intensive rehabilitation program with physical and occupational therapies for patients with degenerative cerebellar diseases can significantly improve functional gains in ataxia, gait, and activities of daily living. Some level of improvement was shown to be maintained 24 weeks
127:
and is often associated with poor coordination of hands, speech, and eye movements. A review of different clinical features among SCA subtypes was recently published describing the frequency of non-cerebellar features, like parkinsonism, chorea, pyramidalism, cognitive impairment, peripheral
2191:
Published case series studies have demonstrated the effects of acute treatment with N-Acetyl-Leucine for the treatment of inherited cerebellar ataxias, including spinocerebellar ataxias. These studies further demonstrated that the treatment is well tolerated, with a good safety profile. A
2509:
Figueroa, Karla P.; Gross, Caspar; Buena-Atienza, Elena; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc; Casadei, Nicolas; Admard, Jakob; Park, Joohyun; ZĂŒhlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya; HĂ€ndler, Kristian (2024-04-29).
318:" disease for either the one-letter designation or codon for glutamine respectively. The threshold for symptoms in most forms of SCA is around 35, though for SCA3 it extends beyond 50. Most polyglutamine diseases are dominant due to the interactions of resulting polyQ tail.
307:, and several others. However, since not every SCA has been genetically identified some SCAs are still diagnosed by neurological examination, which may include a physical exam, family history, MRI scanning of the brain and spine, and spinal tap.
4114:
4099:
2180:(EMA) for the treatment of various genetic diseases, including spinocerebellar ataxias. N-Acetyl-Leucine has also been granted Orphan Drug Designations in the US and EU for the related inherited cerebellar ataxia ataxia-telangiectasia
2150:
status for their treatment. The information provided by BioBlast in their research indicates that they hope this treatment may prove efficacious in other SCA treatments that have similar pathology related to PolyA and PolyQ diseases.
5729:
5897:
218:
There have been reported cases where a polyglutamine expansion may lengthen when passed down, which often can result in an earlier age-of-onset and a more severe disease phenotype for individuals who inherit the disease
2340:
Rossi, M; Perez-Lloret, S; Doldan, L; Cerquetti, D; Balej, J; Millar
Vernetti, P; Hawkes, H; Cammarota, A; Merello, M (2014). "Autosomal dominant cerebellar ataxias: A systematic review of clinical features".
2131:(ADLs). However, rehabilitation therapists can help patients to maximize their ability of self-care and delay deterioration to certain extent. Researchers are exploring multiple avenues for a cure including
4641:
5299:
5817:
2280:
5027:
5022:
2264:
post-treatment. Speech language pathologists may use both behavioral intervention strategies as well as augmentative and alternative communication devices to help patients with impaired speech.
3738:
Trujillo-MartĂn, M.Mar; Serrano-Aguilar, Pedro; Monton-Ălvarez, Fernando; Carrillo-Fumero, Romen (2009). "Effectiveness and safety of treatments for degenerative ataxias: A systematic review".
5039:
5017:
2127:
CAG expansion, a longer expansion may lead to an earlier onset and a more radical progression of clinical symptoms. Typically, a person with this disease will eventually be unable to perform
103:
with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia
2169:
is an orally administered, modified amino acid that is being developed as a novel treatment for multiple rare and common neurological disorders by IntraBio Inc (Oxford, United
Kingdom).
314:
diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG
5120:
4190:
4039:
4028:
4017:
2707:
1200:
dysarthria, slowly progressive gait and limb ataxia with severe dysmetria in the lower extremities, mild dysmetria in the upper extremities, dysphagia, and abnormal ocular movements
303:
has allowed precise identification of dozens of different SCAs and more tests are being added each year. In 2008, a genetic ataxia blood test developed to test for 12 types of SCA,
3570:
Strupp, Michael; Bayer, Otmar; Feil, Katharina; Straube, Andreas (February 2019). "Prophylactic treatment of migraine with and without aura with acetyl-dl-leucine: a case series".
2158:
Finally, another gene transfer technology discovered in 2011 has also been shown by
Boudreau et al. to hold great promise and offers yet another avenue to a potential future cure.
2104:
There is no cure for spinocerebellar ataxia, which is currently considered to be a progressive and irreversible disease, although not all types cause equally severe disability.
3072:
274:
5292:
192:
characterized by the slow degeneration of certain areas of the brain. There are three forms of spinocerebellar degeneration: Types 1, 2, 3. Symptoms begin during adulthood.)
3545:
4386:
211:. Disorder subdivisions: Friedreich's ataxia, spinocerebellar ataxia, ataxia telangiectasia, vasomotor ataxia, vestibulocerebellar, ataxiadynamia, ataxiophemia, and
3781:
Miyai, I.; Ito, M.; Hattori, N.; Mihara, M.; Hatakenaka, M.; Yagura, H.; Sobue, G.; Nishizawa, M.; Cerebellar Ataxia
Rehabilitation Trialists Collaboration (2011).
136:, loss of fine coordination of muscle movements leading to unsteady and clumsy motion, and other symptoms. Ocular deficits can be quantified using the SODA scale.
5285:
4381:
258:
5113:
4183:
2298:
3097:
5009:
3707:
2251:
may assist patients with incoordination or ataxia issues through the use of adaptive devices. Such devices may include a cane, crutches, walker, or
5106:
4999:
4176:
4023:
2702:
4979:
4652:
4012:
2998:. In Adam, Margaret P.; Ardinger, Holly H.; Pagon, Roberta A.; Wallace, Stephanie E.; Bean, Lora J.H.; Stephens, Karen; Amemiya, Anne (eds.).
2594:
5892:
5872:
5004:
4636:
2906:
5902:
5771:
5417:
5158:
4842:
4830:
4292:
180:
3238:"Rational Design of Therapeutic siRNAs: Minimizing Off-targeting Potential to Improve the Safety of RNAi Therapy for Huntington's Disease"
2285:
48:
4129:
3949:
3940:
3076:
2929:
1975:
139:
The symptoms of an ataxia vary with the specific type and with the individual patient. In many cases a person with ataxia retains full
5743:
5395:
5308:
5061:
4994:
4549:
2181:
2173:
4764:
4567:
2200:
5442:
3853:
Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A (1993). Pagon RA, Bird TD, Dolan CR, et al. (eds.).
3440:
Schniepp, Roman; Strupp, Michael; Wuehr, Max; Jahn, Klaus; Dieterich, Marianne; Brandt, Thomas; Feil, Katharina (December 2016).
1842:
5367:
3549:
5361:
4883:
3615:"Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames"
3023:"Motor Training in Degenerative Spinocerebellar Disease: Ataxia-Specific Improvements by Intensive Physiotherapy and Exergames"
2785:
Mosemiller, A.K.; Dalton, J.C.; Day, J.W.; Ranum, L.P.W. (2003). "Molecular genetics of spinocerebellar ataxia type 8 (SCA8)".
5785:
5188:
5150:
4398:
4374:
4204:
849:
228:
5456:
5353:
4590:
3383:
3359:
3310:
3285:
5907:
5660:
5632:
5141:
5077:
4962:
4878:
4820:
4369:
4072:
4059:
3136:
2877:
2855:
2833:
2768:
2746:
2724:
2685:
2663:
2641:
2259:. Other devices are available to assist with writing, feeding, and self care if hand and arm coordination are impaired. A
2220:
2192:
multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of a related inherited cerebellar ataxia,
2124:
2080:
2055:
2030:
2005:
1956:
1931:
1906:
1881:
1856:
1822:
1800:
1775:
1750:
1725:
1700:
1675:
1650:
1625:
1600:
1575:
1550:
1525:
1500:
1475:
1450:
1425:
1400:
1375:
1350:
1325:
1300:
590:
364:
5046:
4420:
212:
5312:
4556:
5277:
5034:
4584:
4256:
2128:
2120:, among others. Both onset of initial symptoms and duration of disease are variable. If the disease is caused by a
5505:
4926:
2193:
5853:
5129:
4984:
4952:
4904:
4753:
4332:
4034:
2512:"A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy"
2260:
2185:
2177:
240:
5801:
5051:
4825:
4239:
4140:
2881:
2859:
2837:
2772:
2750:
2728:
2689:
2667:
2645:
5056:
3335:
5163:
5133:
4989:
4745:
4563:
4415:
4405:
4249:
2248:
977:
869:
841:
763:
722:
674:
627:
513:
450:
400:
224:
2138:
On
January 18, 2017, BioBlast Pharma announced completion of Phase 2a clinical trials of their medication,
5912:
5204:
5177:
4921:
4868:
4544:
4516:
4364:
2224:
1052:
476:
304:
189:
3714:
2208:
2155:
The results from her most recent research "are supportive of clinical application of this gene therapy".
4936:
4810:
4628:
4606:
4521:
4444:
4354:
4341:
4266:
3189:"Broad distribution of ataxin 1 silencing in rhesus cerebella for spinocerebellar ataxia type 1 therapy"
3112:"Bioblast Announces Phase 2a Results of Trehalose in Patients with Spinocerebellar Ataxia Type 3 (SCA3)"
704:
609:
482:
204:
1179:
ataxia, hyperrheflexia, dysarthria, fasciculations of the tongue with subsequent wasting of the tongue
2872:
2850:
2828:
5470:
5168:
4873:
4690:
4579:
2763:
2741:
2719:
2680:
2658:
2636:
961:
660:
315:
4802:
4449:
4304:
4244:
4118:
2601:
2243:
311:
236:
168:
92:
74:
2199:
IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of
5604:
5563:
5543:
5527:
5247:
5211:
5197:
4972:
4957:
4945:
4695:
4646:
4483:
4346:
4234:
3993:
3964:""Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia.""
3812:
3763:
3689:
3595:
3533:
3515:
3497:
2810:
2440:
2376:
2228:
2216:
2204:
1139:
1089:
903:
664:
494:
389:
265:
164:
4168:
4735:
4701:
4673:
4664:
4596:
4572:
4439:
4287:
4151:
3985:
3925:
3902:
3879:
3860:
3842:
3804:
3755:
3681:
3646:
3587:
3473:
3442:"Acetyl-DL-leucine improves gait variability in patients with cerebellar ataxiaâa case series"
3267:
3218:
3091:
3054:
3003:
2976:
2912:
2902:
2802:
2576:
2527:
2491:
2432:
2405:â Gives a concise description of SCA, along with a picture of shrunken degenerated cerebellum.
2368:
2109:
613:
200:
96:
63:
2994:
Cruts, Marc; Engelborghs, Sebastiaan; van der Zee, Julie; Van
Broeckhoven, Christine (1993).
128:
neuropathy, seizures, among others. As with other forms of ataxia, SCA frequently results in
5789:
5713:
4858:
4729:
4724:
4509:
4504:
3975:
3794:
3747:
3673:
3636:
3626:
3579:
3463:
3453:
3420:
3257:
3249:
3208:
3200:
3163:"RNA Interference for Treating Huntington's Disease: An Interview with Dr. Beverly Davidson"
3044:
3034:
2966:
2958:
2794:
2566:
2558:
2519:
2481:
2471:
2424:
2358:
2350:
2212:
2143:
2132:
1135:
1131:
701:
489:
124:
120:
3111:
2001:
1261:
1238:
1234:
1230:
1226:
1222:
1218:
1214:
1111:
1069:
1026:
989:
985:
239:
in protein. The expansion of CAG repeats over successive generations appears to be due to
5486:
5098:
4780:
4471:
4068:
4055:
2076:
2051:
2026:
1952:
1927:
1902:
1877:
1852:
1818:
1771:
1746:
1721:
1696:
1671:
1646:
1621:
1596:
1571:
1546:
1521:
1496:
1471:
1446:
1421:
1396:
1371:
1346:
1321:
300:
244:
172:
140:
100:
3664:
Marsden, J.; Harris, C. (2011). "Cerebellar ataxia: Pathophysiology and rehabilitation".
1296:
299:
A few SCAs remain unspecified and can not be precisely diagnosed, but in the last decade
5831:
5704:
4837:
4786:
4614:
4323:
4200:
3641:
3614:
3468:
3441:
3262:
3237:
3213:
3188:
3049:
3022:
2971:
2946:
2571:
2546:
2486:
2459:
2117:
1147:
281:
208:
17:
1796:
5886:
5549:
4863:
4815:
4685:
4454:
4410:
4261:
3997:
3974:(2). Movement disorders: official journal of the Movement Disorder Society: 401â404.
3532:
for "N-Acetyl-L-Leucine for GM2 Gangliosdisosis (Tay-Sachs and
Sandhoff Disease)" at
2511:
2444:
2166:
1151:
757:
712:
583:
552:
4123:
3816:
3767:
3693:
3599:
2460:"On the wrong DNA track: Molecular mechanisms of repeat-mediated genome instability"
2415:
Shaikh, A; Ji Soo, Kim (2022). "Scale for Ocular motor
Disorders in Ataxia (SODA)".
2380:
2316:
5579:
5557:
4359:
4229:
4212:
4076:
4063:
2814:
2084:
2059:
2034:
2009:
1960:
1935:
1910:
1885:
1860:
1826:
1804:
1779:
1754:
1729:
1704:
1679:
1654:
1629:
1604:
1579:
1554:
1529:
1504:
1479:
1454:
1429:
1404:
1379:
1354:
1329:
1304:
4050:
3528:
3510:
3492:
4145:
3854:
3289:
2562:
5616:
4318:
4279:
4221:
4045:
2995:
2398:
2147:
1143:
786:
708:
486:
4156:
3919:
2523:
2394:
47:
5779:
5765:
5331:
4429:
4299:
4108:
3896:
3873:
3836:
3583:
3458:
3425:
3408:
2962:
2476:
2428:
2252:
2113:
1127:
1093:
1044:
1013:
1006:
575:
540:
435:
248:
160:
133:
104:
55:
3799:
3782:
3677:
2531:
2403:. Bethesda MD: National Center for Biotechnology Information. 1998. NBK22234.
2172:
N-Acetyl-Leucine has been granted multiple orphan drug designations from the
5847:
5347:
4539:
4490:
4478:
4461:
4393:
3783:"Cerebellar Ataxia Rehabilitation Trial in Degenerative Cerebellar Diseases"
3187:
Keiser, M. S.; Kordower, J. H.; Gonzalez-Alegre, P; Davidson, B. L. (2015).
2947:"Neurological disorders associated with DNA strand-break processing enzymes"
2139:
2121:
899:
68:
3989:
3929:
3906:
3883:
3864:
3846:
3808:
3759:
3685:
3650:
3591:
3477:
3271:
3222:
3204:
3058:
3007:
2996:"C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia"
2980:
2806:
2580:
2495:
2436:
2372:
3918:
Brussino, Alessandro; Brusco, Alfredo; DĂŒrr, Alexandra (7 February 2013).
3631:
3039:
207:, ataxia with vitamin E deficiency, ataxia with oculomotor apraxia (AOA),
5755:
5672:
5327:
4719:
4711:
4677:
4531:
4434:
3236:
Boudreau, Ryan L; Spengler, Ryan M; Davidson, Beverly L (December 2011).
2899:
Evaluation and Management of Ataxic Disorders: An Overview for Physicians
2299:"Ataxias and Cerebellar or Spinocerebellar Degeneration Information Page"
2232:
1835:
1288:
Anemia, sideroblastic spinocerebellar ataxia; Pagon Bird Detter syndrome
1048:
1009:
910:
or parts of muscles, without any rhythm or pattern, occurring in various
827:
678:
617:
543:
506:
438:
404:
385:
152:
3253:
2595:"FREQUENTLY ASKED QUESTIONS ABOUT... Gene Testing for Hereditary Ataxia"
5644:
5626:
2945:
Jiang, Bingcheng; Glover, J.N. Mark; Weinfeld, Michael (January 2017).
2363:
801:
747:
632:
594:
522:
129:
4091:
3980:
3963:
3751:
2798:
2354:
5825:
5811:
5723:
5682:
5588:
5521:
5389:
4758:
4499:
4466:
4103:
2135:(RNAi) technology, the use of stem cells, and several other avenues.
1123:
1097:
1085:
1037:
947:
907:
831:
822:
752:
743:
731:
560:
501:
220:
116:
3137:"The Orphan Genetic Disease Company: Bioblast Pharma Ltd. June 2016"
1993:
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy
5014:
Spinal muscular atrophy with lower extremity predominance (SMALED)
3514:
for "N-Acetyl-L-Leucine for Niemann-Pick Disease, Type C (NPC)" at
2547:"Repeat instability during DNA repair: Insights from model systems"
2215:
disease). Future opportunities to develop N-Acetyl-Leucine include
5737:
5654:
5598:
5464:
5450:
5436:
5379:
2916:
1970:
1184:
1156:
1073:
1041:
993:
926:
911:
883:
863:
853:
771:
687:
644:
459:
413:
368:
5898:
Systemic atrophies primarily affecting the central nervous system
5499:
5411:
5341:
4134:
3953:
3944:
2933:
2256:
2071:
2046:
2021:
1996:
1979:
1947:
1922:
1897:
1872:
1847:
1791:
1766:
1741:
1716:
1691:
1666:
1641:
1616:
1591:
1566:
1541:
1516:
1491:
1466:
1441:
1416:
1391:
1366:
1341:
1316:
1291:
1275:
1257:
1253:
1249:
1245:
1205:
1162:
1055:
944:
940:
819:
815:
636:
444:
156:
5281:
5102:
4172:
1260:), but only the first of these has so far been tied to a gene (
3945:
Spinocerebellar Ataxia, Autosomal Recessive 1; SCAR1 - 606002
357:
232:
3162:
1969:
Spinocerebellar ataxia, autosomal recessive 21 - mutation in
155:
ataxias are categorized by mode of inheritance and causative
3496:
for "N-Acetyl-L-Leucine for Ataxia-Telangiectasia (A-T)" at
4024:
Spinocerebellar Ataxias including Machado-Joseph Disease
2703:
Spinocerebellar Ataxias including Machado-Joseph Disease
2624:
1313:
Friedreich's ataxia; Spinocerebellar ataxia, Friedreich
3872:
Moreira, Maria-Ceu; Koenig, Michel (December 8, 2011).
2303:
National Institute on Neurological Disorders and Stroke
2142:, in the treatment of SCA3. BioBlast has received FDA
620:
can appear for the first time as late as 65 years old.
41:
Spinocerebellar atrophy or Spinocerebellar degeneration
2901:. Minneapolis: National Ataxia Foundation. p. 6.
830:(loss of normal motor function, resulting in impaired
4013:
Ataxia and Cerebellar or Spinocerebellar Degeneration
657:(1â45; early onset correlates with shorter duration)
325:
The following is a list of some of the many types of
163:
locus. The hereditary ataxias can be inherited in an
4081:
1813:
Spinocerebellar ataxia amyotrophy deafness syndrome
5800:
5754:
5712:
5703:
5671:
5643:
5615:
5587:
5578:
5485:
5428:
5378:
5326:
5319:
5257:
5239:
5187:
5149:
5140:
4935:
4912:
4903:
4896:
4851:
4801:
4773:
4744:
4710:
4672:
4661:
4627:
4605:
4530:
4340:
4331:
4317:
4277:
4220:
4211:
4085:
3002:. Seattle (WA): University of Washington, Seattle.
62:
37:
32:
229:repeat expansion of the trinucleotide sequence CAG
199:disorders in which ataxia is a prominent feature:
3859:. Seattle WA: University of Washington, Seattle.
1413:Spinocerebellar ataxia 3; Machado Joseph disease
188:is a rare inherited neurological disorder of the
284:disorders in which ataxia is a prominent feature
3384:"Search Orphan Drug Designations and Approvals"
3360:"Search Orphan Drug Designations and Approvals"
3311:"Search Orphan Drug Designations and Approvals"
3409:"MEDLINE, PubMed, PubMed Central, and the NLM"
1944:Spinocerebellar ataxia, autosomal recessive 6
1919:Spinocerebellar ataxia, autosomal recessive 5
1894:Spinocerebellar ataxia, autosomal recessive 4
1869:Spinocerebellar ataxia, autosomal recessive 3
5293:
5114:
4184:
2317:"Spinocerebellar Ataxia | Research Computing"
1843:Spinocerebellar ataxia, autosomal recessive 1
859:Childhood or adulthood depending on mutation
8:
3962:Nikonishyna, Yuliia V.; et al. (2022).
3708:"SCA2 information sheet from www.ataxia.org"
227:. Several types of SCA are characterized by
2545:Usdin K, House NC, Freudenreich CH (2015).
310:Many SCAs below fall under the category of
5709:
5584:
5491:
5323:
5300:
5286:
5278:
5146:
5121:
5107:
5099:
4909:
4900:
4669:
4337:
4328:
4217:
4191:
4177:
4169:
4082:
2892:
2890:
1244:Four X-linked types have been described (
143:but progressively loses physical control.
73:
46:
29:
3979:
3798:
3640:
3630:
3613:Synofzik, Matthis; Ilg, Winfried (2014).
3467:
3457:
3424:
3261:
3212:
3048:
3038:
3021:Synofzik, Matthis; Ilg, Winfried (2014).
2970:
2570:
2485:
2475:
2362:
393:(note: saccades relates to eye movement)
5174:Spinocerebellar ataxia 1, 2, 3, 6, 7, 17
3334:FRANCISCO, Estela Miranda (2018-12-20).
1268:
331:
3935:
3912:
3889:
2273:
1338:Infantile onset Spinocerebellar ataxia
254:
5772:Congenital generalized lipodystrophy 3
4980:Distal hereditary motor neuronopathies
4653:Template:Demyelinating diseases of CNS
3096:: CS1 maint: archived copy as title (
3089:
2458:Khristich AN, Mirkin SM (March 2020).
1146:, extensor plantar responses, reduced
184:term "spinocerebellar degeneration." (
3924:. University of Washington, Seattle.
3901:. University of Washington, Seattle.
3878:. University of Washington, Seattle.
3875:Ataxia with Oculomotor Apraxia Type 2
3841:. University of Washington, Seattle.
3787:Neurorehabilitation and Neural Repair
715:), instability, lack of coordination
181:autosomal dominant cerebellar ataxias
7:
5744:Hemophagocytic lymphohistiocytosis 4
5159:Dentatorubral-pallidoluysian atrophy
4831:Idiopathic intracranial hypertension
2951:Mechanisms of Ageing and Development
2417:Journal of the Neurological Sciences
2400:Genes and Disease [Internet]
2068:Spinocerebellar ataxia, X-linked, 4
2043:Spinocerebellar ataxia, X-linked, 3
2018:Spinocerebellar ataxia, X-linked, 2
223:. This falls under the category of
123:characterized by slowly progressive
3950:Online Mendelian Inheritance in Man
3941:Online Mendelian Inheritance in Man
2930:Online Mendelian Inheritance in Man
2182:U.S. Food & Drug Administration
2174:U.S. Food & Drug Administration
1976:Online Mendelian Inheritance in Man
5396:Cranio-lenticulo-sutural dysplasia
5309:Inherited disorders of trafficking
5062:Infantile progressive bulbar palsy
4069:Spinocerebellar ataxia dysmorphism
3835:Bird, Thomas D (23 January 2014).
789:(able to walk about on one's own)
25:
5786:Limb-girdle muscular dystrophy 2B
4765:Template:Cerebrovascular diseases
4568:Frontotemporal lobar degeneration
5661:Hereditary spastic paraplegia 10
5443:X-linked intellectual disability
4785:For more detailed coverage, see
4763:For more detailed coverage, see
4734:For more detailed coverage, see
4700:For more detailed coverage, see
4651:For more detailed coverage, see
3895:Pulst, Stefan-M (1 March 2012).
3161:Veritas, Gene (17 August 2013).
273:
257:
5633:Hereditary spastic paraplegia 4
2787:Cytogenetic and Genome Research
1173:5th and 6th decade (adulthood)
3921:Spinocerebellar Ataxia Type 28
3898:Spinocerebellar Ataxia Type 13
3856:GeneReviews [Internet]
1165:) located at chromosome 20p13
1:
5078:Amyotrophic lateral sclerosis
4963:Hereditary spastic paraplegia
4821:Normal pressure hydrocephalus
3619:BioMed Research International
3027:BioMed Research International
2551:Crit. Rev. Biochem. Mol. Biol
2343:European Journal of Neurology
2221:amyotrophic lateral sclerosis
348:What the patient experiences
5893:Autosomal dominant disorders
5873:vesicular transport proteins
5313:vesicular transport proteins
5047:Progressive muscular atrophy
4051:Olivopontocerebellar atrophy
2563:10.3109/10409238.2014.999192
2286:Dorland's Medical Dictionary
980:, 6q (TATA-binding protein)
429:Diminished velocity saccades
264:There are numerous types of
213:olivopontocerebellar atrophy
186:Spinocerebellar degeneration
58:(in blue) of the human brain
5903:Neurodegenerative disorders
5457:HermanskyâPudlak syndrome 2
4557:Primary progressive aphasia
2201:Niemann-Pick disease type C
119:(SCA) is one of a group of
5929:
5151:Polyglutamine (PolyQ), CAG
4879:Hashimoto's encephalopathy
4585:Posterior cortical atrophy
4406:Striatonigral degeneration
4257:Cavernous sinus thrombosis
3838:Hereditary Ataxia Overview
2897:Perlman, Susan L. (2016).
2524:10.1038/s41588-024-01719-5
1788:Spinocerebellar ataxia 35
1763:Spinocerebellar ataxia 30
1738:Spinocerebellar ataxia 28
1713:Spinocerebellar ataxia 26
1688:Spinocerebellar ataxia 25
1663:Spinocerebellar ataxia 23
1638:Spinocerebellar ataxia 21
1613:Spinocerebellar ataxia 20
1588:Spinocerebellar ataxia 19
1563:Spinocerebellar ataxia 18
1538:Spinocerebellar ataxia 13
237:polyglutamine repeat tract
5868:
5854:Distal muscular dystrophy
5842:
5538:
5516:
5494:
5406:
5354:HermanskyâPudlak syndrome
5266:Spinocerebellar ataxia 10
5248:Myotonic dystrophy type 2
5226:Spinocerebellar ataxia 12
5212:Myotonic dystrophy type 1
5130:Non-Mendelian inheritance
4985:Spinal muscular atrophies
4953:Primary lateral sclerosis
4811:Intracranial hypertension
4591:CreutzfeldtâJakob disease
4056:Spinocerebellar ataxia 27
3584:10.1007/s00415-018-9155-6
3459:10.1186/s40673-016-0046-2
3426:10.1080/17521740701702115
3340:European Medicines Agency
2963:10.1016/j.mad.2016.07.009
2477:10.1074/jbc.REV119.007678
2429:10.1016/j.jns.2022.120472
2261:randomised clinical trial
2186:European Medicines Agency
2178:European Medicines Agency
1513:Spinocerebellar ataxia 8
1488:Spinocerebellar ataxia 7
1463:Spinocerebellar ataxia 5
1438:Spinocerebellar ataxia 4
1388:Spinocerebellar ataxia 2
1363:Spinocerebellar ataxia 1
241:slipped strand mispairing
54:
45:
5802:Vacuolar protein sorting
5689:Spinocerebellar ataxia 5
5368:ChĂ©diakâHigashi syndrome
5219:Spinocerebellar ataxia 8
5052:Progressive bulbar palsy
4843:Intracranial hypotension
4826:Choroid plexus papilloma
4240:Herpesviral encephalitis
4046:MedlinePlus Encyclopedia
3954:Senataxin; SETX - 608465
3800:10.1177/1545968311425918
3678:10.1177/0269215510382495
3446:Cerebellum & Ataxias
3407:Cross, Jo (April 2006).
2395:"Spinocerebellar ataxia"
2281:"spinocerebellar ataxia"
2255:for those with impaired
4564:Frontotemporal dementia
4250:Encephalitis lethargica
4035:Multiple System Atrophy
3666:Clinical Rehabilitation
2249:Occupational therapists
870:Intellectual disability
707:(a rapid, involuntary,
485:(a rapid, involuntary,
280:There are five typical
195:There are five typical
18:Spinocerebellar ataxias
5178:Machado-Joseph disease
4869:Hepatic encephalopathy
3526:Clinical trial number
3508:Clinical trial number
3490:Clinical trial number
3388:www.accessdata.fda.gov
3364:www.accessdata.fda.gov
3315:www.accessdata.fda.gov
477:Machado-Joseph disease
327:Spinocerebellar ataxia
190:central nervous system
125:incoordination of gait
85:Spinocerebellar ataxia
33:Spinocerebellar ataxia
4927:Ataxiaâtelangiectasia
4884:Static encephalopathy
4607:Mitochondrial disease
4445:Spasmodic torticollis
4355:Basal ganglia disease
3142:. Bioblast Pharma Ltd
2225:restless leg syndrome
2194:ataxia-telangiectasia
205:ataxia-telangiectasia
5908:Cytoskeletal defects
5605:Griscelli syndrome 1
5564:Griscelli syndrome 3
5528:Griscelli syndrome 2
5164:Huntington's disease
4874:Toxic encephalopathy
4580:Lewy bodies dementia
3572:Journal of Neurology
3205:10.1093/brain/awv292
2125:trinucleotide repeat
1161:transglutaminase 6 (
661:Macular degeneration
316:trinucleotide repeat
225:genetic anticipation
5205:Friedreich's ataxia
4922:Friedreich's ataxia
4305:Meningoencephalitis
4245:Limbic encephalitis
3632:10.1155/2014/583507
3254:10.1038/mt.2011.185
3040:10.1155/2014/583507
2244:Physical therapists
421:(<10 to >60)
376:(<10 to >60)
305:Friedreich's ataxia
282:autosomal recessive
197:autosomal-recessive
169:autosomal recessive
5790:Long QT syndrome 9
5198:Fragile X syndrome
4958:Pseudobulbar palsy
4696:Status epilepticus
4647:Multiple sclerosis
4484:Myoclonic epilepsy
4347:movement disorders
4293:Acute disseminated
4235:Viral encephalitis
3968:Movement Disorders
3740:Movement Disorders
3534:ClinicalTrials.gov
3516:ClinicalTrials.gov
3498:ClinicalTrials.gov
2229:multiple sclerosis
2217:Lewy body dementia
2205:GM2 gangliosidosis
1140:pseudobulbar palsy
665:upper motor neuron
495:upper motor neuron
390:upper motor neuron
268:cerebellar ataxias
266:autosomal-dominant
165:autosomal dominant
111:Signs and symptoms
5880:
5879:
5864:
5863:
5699:
5698:
5574:
5573:
5481:
5480:
5320:Vesicle formation
5275:
5274:
5235:
5234:
5189:Non-polyglutamine
5096:
5095:
5092:
5091:
5088:
5087:
4892:
4891:
4797:
4796:
4736:Template:Headache
4702:Template:Epilepsy
4623:
4622:
4597:Vascular dementia
4440:Status dystonicus
4313:
4312:
4288:Encephalomyelitis
4166:
4165:
3981:10.1002/mds.28835
3752:10.1002/mds.22564
3413:Editors' Bulletin
3248:(12): 2169â2177.
3242:Molecular Therapy
3199:(12): 3555â3566.
2957:(Pt A): 130â140.
2908:978-0-943218-14-4
2799:10.1159/000072852
2470:(13): 4134â4170.
2355:10.1111/ene.12350
2196:, began in 2019.
2092:
2091:
1211:
1210:
866:(a kind of gene)
388:, slow saccades,
345:(Range in Years)
340:(Range in Years)
201:Friedreich ataxia
121:genetic disorders
105:at any given time
82:
81:
27:Medical condition
16:(Redirected from
5920:
5714:Synaptic vesicle
5710:
5585:
5492:
5324:
5302:
5295:
5288:
5279:
5147:
5123:
5116:
5109:
5100:
4910:
4901:
4859:Brain herniation
4670:
4510:Intention tremor
4505:Essential tremor
4370:Postencephalitic
4338:
4329:
4218:
4199:Diseases of the
4193:
4186:
4179:
4170:
4083:
4001:
3983:
3933:
3910:
3887:
3868:
3850:
3821:
3820:
3802:
3778:
3772:
3771:
3735:
3729:
3728:
3726:
3725:
3719:
3713:. Archived from
3712:
3704:
3698:
3697:
3661:
3655:
3654:
3644:
3634:
3610:
3604:
3603:
3567:
3561:
3560:
3558:
3557:
3548:. Archived from
3542:
3536:
3524:
3518:
3506:
3500:
3488:
3482:
3481:
3471:
3461:
3437:
3431:
3430:
3428:
3404:
3398:
3397:
3395:
3394:
3380:
3374:
3373:
3371:
3370:
3356:
3350:
3349:
3347:
3346:
3331:
3325:
3324:
3322:
3321:
3307:
3301:
3300:
3298:
3297:
3288:. Archived from
3282:
3276:
3275:
3265:
3233:
3227:
3226:
3216:
3184:
3178:
3177:
3175:
3173:
3158:
3152:
3151:
3149:
3147:
3141:
3133:
3127:
3126:
3124:
3122:
3108:
3102:
3101:
3095:
3087:
3085:
3084:
3075:. Archived from
3069:
3063:
3062:
3052:
3042:
3018:
3012:
3011:
2991:
2985:
2984:
2974:
2942:
2936:
2927:
2921:
2920:
2894:
2885:
2869:
2863:
2847:
2841:
2825:
2819:
2818:
2782:
2776:
2760:
2754:
2738:
2732:
2716:
2710:
2699:
2693:
2677:
2671:
2655:
2649:
2633:
2627:
2622:
2616:
2615:
2613:
2612:
2606:
2600:. Archived from
2599:
2591:
2585:
2584:
2574:
2542:
2536:
2535:
2506:
2500:
2499:
2489:
2479:
2455:
2449:
2448:
2412:
2406:
2404:
2391:
2385:
2384:
2366:
2337:
2331:
2330:
2328:
2327:
2313:
2307:
2306:
2295:
2289:
2278:
2167:N-Acetyl-Leucine
2162:N-Acetyl-Leucine
2133:RNA interference
2002:Disease ID 10000
1269:
1136:intention tremor
1132:ocular dysmetria
1053:gastrointestinal
782:Normal lifespan
762:pentanucleotide
698:Normal lifespan
667:, slow saccades
343:Average Duration
332:
277:
261:
115:Spinocerebellar
78:
77:
50:
30:
21:
5928:
5927:
5923:
5922:
5921:
5919:
5918:
5917:
5883:
5882:
5881:
5876:
5860:
5838:
5796:
5750:
5730:CEDNIK syndrome
5695:
5667:
5639:
5611:
5570:
5534:
5512:
5477:
5424:
5402:
5374:
5315:
5306:
5276:
5271:
5258:Pentanucleotide
5253:
5240:Tetranucleotide
5231:
5183:
5169:Kennedy disease
5136:
5127:
5097:
5084:
5010:Congenital DSMA
4931:
4888:
4847:
4793:
4781:Sleep disorders
4769:
4746:Cerebrovascular
4740:
4706:
4663:
4657:
4619:
4601:
4526:
4472:Choreoathetosis
4345:
4322:
4309:
4273:
4207:
4197:
4167:
4162:
4161:
4094:
4008:
3961:
3958:
3917:
3894:
3871:
3852:
3834:
3830:
3828:Further reading
3825:
3824:
3780:
3779:
3775:
3737:
3736:
3732:
3723:
3721:
3717:
3710:
3706:
3705:
3701:
3663:
3662:
3658:
3612:
3611:
3607:
3569:
3568:
3564:
3555:
3553:
3544:
3543:
3539:
3525:
3521:
3507:
3503:
3489:
3485:
3439:
3438:
3434:
3406:
3405:
3401:
3392:
3390:
3382:
3381:
3377:
3368:
3366:
3358:
3357:
3353:
3344:
3342:
3333:
3332:
3328:
3319:
3317:
3309:
3308:
3304:
3295:
3293:
3284:
3283:
3279:
3235:
3234:
3230:
3186:
3185:
3181:
3171:
3169:
3160:
3159:
3155:
3145:
3143:
3139:
3135:
3134:
3130:
3120:
3118:
3110:
3109:
3105:
3088:
3082:
3080:
3073:"Archived copy"
3071:
3070:
3066:
3020:
3019:
3015:
2993:
2992:
2988:
2944:
2943:
2939:
2928:
2924:
2909:
2896:
2895:
2888:
2870:
2866:
2848:
2844:
2826:
2822:
2793:(1â4): 175â83.
2784:
2783:
2779:
2761:
2757:
2739:
2735:
2717:
2713:
2700:
2696:
2678:
2674:
2656:
2652:
2634:
2630:
2623:
2619:
2610:
2608:
2604:
2597:
2593:
2592:
2588:
2544:
2543:
2539:
2516:Nature Genetics
2508:
2507:
2503:
2457:
2456:
2452:
2414:
2413:
2409:
2393:
2392:
2388:
2339:
2338:
2334:
2325:
2323:
2315:
2314:
2310:
2297:
2296:
2292:
2279:
2275:
2270:
2241:
2164:
2118:sleep disorders
2102:
2097:
2077:Disease ID 9980
2052:Disease ID 9981
2027:Disease ID 9978
1953:Disease ID 4954
1928:Disease ID 9977
1903:Disease ID 4952
1878:Disease ID 9971
1853:Disease ID 4949
1819:Disease ID 2451
1772:Disease ID 9975
1747:Disease ID 9951
1722:Disease ID 9995
1697:Disease ID 9996
1672:Disease ID 9950
1647:Disease ID 9999
1622:Disease ID 9997
1597:Disease ID 9969
1572:Disease ID 9976
1547:Disease ID 9611
1522:Disease ID 4956
1497:Disease ID 4955
1472:Disease ID 4953
1447:Disease ID 9970
1422:Disease ID 6801
1397:Disease ID 4072
1372:Disease ID 4071
1347:Disease ID 4062
1322:Disease ID 6468
1213:Others include
933:
895:
890:
826:
808:
778:
761:
694:
656:
651:
631:
616:
601:
567:
529:
504:
497:
493:
492:of the eyeball)
480:
471:
466:
430:
425:
420:
392:
380:
375:
355:
344:
339:
301:genetic testing
297:
292:
285:
278:
269:
262:
245:DNA replication
235:that encodes a
173:X-linked manner
149:
141:mental capacity
113:
101:genetic disease
72:
28:
23:
22:
15:
12:
11:
5:
5926:
5924:
5916:
5915:
5910:
5905:
5900:
5895:
5885:
5884:
5878:
5877:
5869:
5866:
5865:
5862:
5861:
5859:
5858:
5857:
5856:
5843:
5840:
5839:
5837:
5836:
5835:
5834:
5832:Cohen syndrome
5822:
5821:
5820:
5807:
5805:
5798:
5797:
5795:
5794:
5793:
5792:
5776:
5775:
5774:
5761:
5759:
5752:
5751:
5749:
5748:
5747:
5746:
5734:
5733:
5732:
5719:
5717:
5707:
5705:Vesicle fusion
5701:
5700:
5697:
5696:
5694:
5693:
5692:
5691:
5678:
5676:
5669:
5668:
5666:
5665:
5664:
5663:
5650:
5648:
5641:
5640:
5638:
5637:
5636:
5635:
5622:
5620:
5613:
5612:
5610:
5609:
5608:
5607:
5594:
5592:
5582:
5576:
5575:
5572:
5571:
5569:
5568:
5567:
5566:
5554:
5553:
5552:
5539:
5536:
5535:
5533:
5532:
5531:
5530:
5517:
5514:
5513:
5511:
5510:
5509:
5508:
5495:
5489:
5483:
5482:
5479:
5478:
5476:
5475:
5474:
5473:
5461:
5460:
5459:
5447:
5446:
5445:
5432:
5430:
5426:
5425:
5423:
5422:
5421:
5420:
5407:
5404:
5403:
5401:
5400:
5399:
5398:
5385:
5383:
5376:
5375:
5373:
5372:
5371:
5370:
5358:
5357:
5356:
5337:
5335:
5321:
5317:
5316:
5307:
5305:
5304:
5297:
5290:
5282:
5273:
5272:
5270:
5269:
5261:
5259:
5255:
5254:
5252:
5251:
5243:
5241:
5237:
5236:
5233:
5232:
5230:
5229:
5222:
5215:
5208:
5201:
5193:
5191:
5185:
5184:
5182:
5181:
5171:
5166:
5161:
5155:
5153:
5144:
5138:
5137:
5128:
5126:
5125:
5118:
5111:
5103:
5094:
5093:
5090:
5089:
5086:
5085:
5083:
5082:
5081:
5080:
5069:
5068:
5067:
5066:
5065:
5064:
5059:
5049:
5044:
5043:
5042:
5037:
5032:
5031:
5030:
5025:
5020:
5012:
5007:
5002:
4997:
4992:
4982:
4968:
4967:
4966:
4965:
4960:
4955:
4941:
4939:
4933:
4932:
4930:
4929:
4924:
4918:
4916:
4907:
4898:
4894:
4893:
4890:
4889:
4887:
4886:
4881:
4876:
4871:
4866:
4861:
4855:
4853:
4849:
4848:
4846:
4845:
4840:
4838:Cerebral edema
4835:
4834:
4833:
4828:
4823:
4818:
4807:
4805:
4799:
4798:
4795:
4794:
4792:
4791:
4790:
4789:
4787:Template:Sleep
4777:
4775:
4771:
4770:
4768:
4767:
4761:
4756:
4750:
4748:
4742:
4741:
4739:
4738:
4732:
4727:
4722:
4716:
4714:
4708:
4707:
4705:
4704:
4698:
4693:
4688:
4682:
4680:
4667:
4659:
4658:
4656:
4655:
4649:
4644:
4639:
4633:
4631:
4625:
4624:
4621:
4620:
4618:
4617:
4615:Leigh syndrome
4611:
4609:
4603:
4602:
4600:
4599:
4588:
4587:
4582:
4577:
4576:
4575:
4561:
4560:
4559:
4554:
4553:
4552:
4536:
4534:
4528:
4527:
4525:
4524:
4519:
4514:
4513:
4512:
4507:
4496:
4495:
4494:
4493:
4488:
4487:
4486:
4476:
4475:
4474:
4464:
4459:
4458:
4457:
4452:
4447:
4442:
4426:
4425:
4424:
4423:
4418:
4413:
4408:
4403:
4402:
4401:
4391:
4390:
4389:
4379:
4378:
4377:
4372:
4367:
4351:
4349:
4342:Extrapyramidal
4335:
4326:
4324:encephalopathy
4315:
4314:
4311:
4310:
4308:
4307:
4302:
4297:
4296:
4295:
4284:
4282:
4275:
4274:
4272:
4271:
4270:
4269:
4259:
4254:
4253:
4252:
4247:
4242:
4237:
4226:
4224:
4215:
4209:
4208:
4201:nervous system
4198:
4196:
4195:
4188:
4181:
4173:
4164:
4163:
4160:
4159:
4148:
4137:
4126:
4111:
4095:
4090:
4089:
4087:
4086:Classification
4080:
4079:
4066:
4053:
4042:
4031:
4020:
4007:
4006:External links
4004:
4003:
4002:
3957:
3956:
3947:
3938:
3915:
3892:
3869:
3831:
3829:
3826:
3823:
3822:
3773:
3746:(8): 1111â24.
3730:
3699:
3672:(3): 195â216.
3656:
3605:
3578:(2): 525â529.
3562:
3537:
3519:
3501:
3483:
3432:
3399:
3375:
3351:
3336:"EU/3/18/2059"
3326:
3302:
3277:
3228:
3179:
3153:
3128:
3103:
3064:
3013:
2986:
2937:
2922:
2907:
2886:
2864:
2842:
2820:
2777:
2755:
2733:
2711:
2694:
2672:
2650:
2628:
2625:www.ataxia.org
2617:
2586:
2537:
2501:
2450:
2407:
2386:
2332:
2308:
2290:
2272:
2271:
2269:
2266:
2240:
2239:Rehabilitation
2237:
2184:(FDA) and the
2176:(FDA) and the
2163:
2160:
2101:
2098:
2096:
2093:
2090:
2089:
2087:
2074:
2069:
2065:
2064:
2062:
2049:
2044:
2040:
2039:
2037:
2024:
2019:
2015:
2014:
2012:
1999:
1994:
1990:
1989:
1984:
1982:
1973:
1966:
1965:
1963:
1950:
1945:
1941:
1940:
1938:
1925:
1920:
1916:
1915:
1913:
1900:
1895:
1891:
1890:
1888:
1875:
1870:
1866:
1865:
1863:
1850:
1845:
1839:
1838:
1829:
1816:
1814:
1810:
1809:
1807:
1794:
1789:
1785:
1784:
1782:
1769:
1764:
1760:
1759:
1757:
1744:
1739:
1735:
1734:
1732:
1719:
1714:
1710:
1709:
1707:
1694:
1689:
1685:
1684:
1682:
1669:
1664:
1660:
1659:
1657:
1644:
1639:
1635:
1634:
1632:
1619:
1614:
1610:
1609:
1607:
1594:
1589:
1585:
1584:
1582:
1569:
1564:
1560:
1559:
1557:
1544:
1539:
1535:
1534:
1532:
1519:
1514:
1510:
1509:
1507:
1494:
1489:
1485:
1484:
1482:
1469:
1464:
1460:
1459:
1457:
1444:
1439:
1435:
1434:
1432:
1419:
1414:
1410:
1409:
1407:
1394:
1389:
1385:
1384:
1382:
1369:
1364:
1360:
1359:
1357:
1344:
1339:
1335:
1334:
1332:
1319:
1314:
1310:
1309:
1307:
1297:Disease ID 668
1294:
1289:
1285:
1284:
1281:
1278:
1273:
1209:
1208:
1203:
1201:
1198:
1195:
1192:
1188:
1187:
1182:
1180:
1177:
1174:
1171:
1167:
1166:
1159:
1154:
1148:proprioception
1122:gait and limb
1120:
1117:
1114:
1108:
1107:
1104:
1101:
1090:poor cognition
1083:
1080:
1077:
1066:
1065:
1062:
1059:
1035:
1032:
1029:
1023:
1022:
1019:
1016:
1003:
1000:
997:
982:
981:
974:
971:
969:
967:
965:
957:
956:
953:
950:
938:
935:
930:
922:
921:
918:
915:
897:
892:
887:
879:
878:
875:
872:
867:
860:
857:
846:
845:
838:
835:
813:
810:
805:
797:
796:
793:
790:
783:
780:
775:
767:
766:
758:Chromosome 22q
755:
750:
741:
738:
735:
727:
726:
719:
716:
711:motion of the
699:
696:
691:
683:
682:
671:
668:
658:
653:
650:3rdâ4th decade
648:
640:
639:
624:
621:
606:
603:
600:5thâ6th decade
598:
587:
586:
581:
578:
572:
569:
566:3rdâ4th decade
564:
556:
555:
553:Chromosome 16q
550:
547:
534:
531:
528:4thâ7th decade
526:
518:
517:
510:
499:
498:slow saccades
473:
468:
463:
455:
454:
447:
442:
427:
422:
419:3rdâ4th decade
417:
409:
408:
397:
394:
382:
377:
372:
361:
360:
352:
351:Common origin
349:
346:
341:
336:
296:
295:Classification
293:
291:
288:
287:
286:
279:
272:
270:
263:
256:
253:
252:
216:
209:spastic ataxia
193:
179:Many types of
148:
145:
112:
109:
80:
79:
66:
60:
59:
52:
51:
43:
42:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
5925:
5914:
5913:Rare diseases
5911:
5909:
5906:
5904:
5901:
5899:
5896:
5894:
5891:
5890:
5888:
5875:
5874:
5867:
5855:
5852:
5851:
5850:
5849:
5845:
5844:
5841:
5833:
5830:
5829:
5828:
5827:
5823:
5819:
5816:
5815:
5814:
5813:
5809:
5808:
5806:
5803:
5799:
5791:
5787:
5784:
5783:
5782:
5781:
5777:
5773:
5770:
5769:
5768:
5767:
5763:
5762:
5760:
5757:
5753:
5745:
5742:
5741:
5740:
5739:
5735:
5731:
5728:
5727:
5726:
5725:
5721:
5720:
5718:
5715:
5711:
5708:
5706:
5702:
5690:
5687:
5686:
5685:
5684:
5680:
5679:
5677:
5674:
5670:
5662:
5659:
5658:
5657:
5656:
5652:
5651:
5649:
5646:
5642:
5634:
5631:
5630:
5629:
5628:
5624:
5623:
5621:
5618:
5614:
5606:
5603:
5602:
5601:
5600:
5596:
5595:
5593:
5590:
5586:
5583:
5581:
5577:
5565:
5562:
5561:
5560:
5559:
5555:
5551:
5550:Choroideremia
5548:
5547:
5546:
5545:
5541:
5540:
5537:
5529:
5526:
5525:
5524:
5523:
5519:
5518:
5515:
5507:
5504:
5503:
5502:
5501:
5497:
5496:
5493:
5490:
5488:
5484:
5472:
5469:
5468:
5467:
5466:
5462:
5458:
5455:
5454:
5453:
5452:
5448:
5444:
5441:
5440:
5439:
5438:
5434:
5433:
5431:
5427:
5419:
5416:
5415:
5414:
5413:
5409:
5408:
5405:
5397:
5394:
5393:
5392:
5391:
5387:
5386:
5384:
5381:
5377:
5369:
5366:
5365:
5364:
5363:
5359:
5355:
5352:
5351:
5350:
5349:
5344:
5343:
5339:
5338:
5336:
5333:
5329:
5325:
5322:
5318:
5314:
5310:
5303:
5298:
5296:
5291:
5289:
5284:
5283:
5280:
5267:
5263:
5262:
5260:
5256:
5249:
5245:
5244:
5242:
5238:
5227:
5223:
5220:
5216:
5213:
5209:
5206:
5202:
5199:
5195:
5194:
5192:
5190:
5186:
5179:
5175:
5172:
5170:
5167:
5165:
5162:
5160:
5157:
5156:
5154:
5152:
5148:
5145:
5143:
5142:Trinucleotide
5139:
5135:
5131:
5124:
5119:
5117:
5112:
5110:
5105:
5104:
5101:
5079:
5076:
5075:
5074:
5071:
5070:
5063:
5060:
5058:
5055:
5054:
5053:
5050:
5048:
5045:
5041:
5038:
5036:
5033:
5029:
5026:
5024:
5021:
5019:
5016:
5015:
5013:
5011:
5008:
5006:
5003:
5001:
4998:
4996:
4993:
4991:
4988:
4987:
4986:
4983:
4981:
4978:
4977:
4976:
4974:
4970:
4969:
4964:
4961:
4959:
4956:
4954:
4951:
4950:
4949:
4947:
4943:
4942:
4940:
4938:
4934:
4928:
4925:
4923:
4920:
4919:
4917:
4915:
4911:
4908:
4906:
4902:
4899:
4895:
4885:
4882:
4880:
4877:
4875:
4872:
4870:
4867:
4865:
4864:Reye syndrome
4862:
4860:
4857:
4856:
4854:
4850:
4844:
4841:
4839:
4836:
4832:
4829:
4827:
4824:
4822:
4819:
4817:
4816:Hydrocephalus
4814:
4813:
4812:
4809:
4808:
4806:
4804:
4800:
4788:
4784:
4783:
4782:
4779:
4778:
4776:
4772:
4766:
4762:
4760:
4757:
4755:
4752:
4751:
4749:
4747:
4743:
4737:
4733:
4731:
4728:
4726:
4723:
4721:
4718:
4717:
4715:
4713:
4709:
4703:
4699:
4697:
4694:
4692:
4689:
4687:
4684:
4683:
4681:
4679:
4675:
4671:
4668:
4666:
4660:
4654:
4650:
4648:
4645:
4643:
4640:
4638:
4635:
4634:
4632:
4630:
4629:Demyelinating
4626:
4616:
4613:
4612:
4610:
4608:
4604:
4598:
4595:
4594:
4593:
4592:
4586:
4583:
4581:
4578:
4574:
4571:
4570:
4569:
4565:
4562:
4558:
4555:
4551:
4548:
4547:
4546:
4543:
4542:
4541:
4538:
4537:
4535:
4533:
4529:
4523:
4520:
4518:
4517:Restless legs
4515:
4511:
4508:
4506:
4503:
4502:
4501:
4498:
4497:
4492:
4489:
4485:
4482:
4481:
4480:
4477:
4473:
4470:
4469:
4468:
4465:
4463:
4460:
4456:
4455:Blepharospasm
4453:
4451:
4448:
4446:
4443:
4441:
4438:
4437:
4436:
4433:
4432:
4431:
4428:
4427:
4422:
4419:
4417:
4414:
4412:
4411:Hemiballismus
4409:
4407:
4404:
4400:
4397:
4396:
4395:
4392:
4388:
4385:
4384:
4383:
4380:
4376:
4373:
4371:
4368:
4366:
4363:
4362:
4361:
4358:
4357:
4356:
4353:
4352:
4350:
4348:
4343:
4339:
4336:
4334:
4330:
4327:
4325:
4320:
4316:
4306:
4303:
4301:
4298:
4294:
4291:
4290:
4289:
4286:
4285:
4283:
4281:
4276:
4268:
4265:
4264:
4263:
4262:Brain abscess
4260:
4258:
4255:
4251:
4248:
4246:
4243:
4241:
4238:
4236:
4233:
4232:
4231:
4228:
4227:
4225:
4223:
4219:
4216:
4214:
4210:
4206:
4202:
4194:
4189:
4187:
4182:
4180:
4175:
4174:
4171:
4158:
4154:
4153:
4149:
4147:
4143:
4142:
4138:
4136:
4132:
4131:
4127:
4125:
4121:
4120:
4116:
4112:
4110:
4106:
4105:
4101:
4097:
4096:
4093:
4088:
4084:
4078:
4077:Rare Diseases
4075:'s Office of
4074:
4070:
4067:
4065:
4064:Rare Diseases
4062:'s Office of
4061:
4057:
4054:
4052:
4048:
4047:
4043:
4041:
4037:
4036:
4032:
4030:
4026:
4025:
4021:
4019:
4015:
4014:
4010:
4009:
4005:
3999:
3995:
3991:
3987:
3982:
3977:
3973:
3969:
3965:
3960:
3959:
3955:
3951:
3948:
3946:
3942:
3939:
3937:
3931:
3927:
3923:
3922:
3916:
3914:
3908:
3904:
3900:
3899:
3893:
3891:
3885:
3881:
3877:
3876:
3870:
3866:
3862:
3858:
3857:
3848:
3844:
3840:
3839:
3833:
3832:
3827:
3818:
3814:
3810:
3806:
3801:
3796:
3793:(5): 515â22.
3792:
3788:
3784:
3777:
3774:
3769:
3765:
3761:
3757:
3753:
3749:
3745:
3741:
3734:
3731:
3720:on 2012-07-12
3716:
3709:
3703:
3700:
3695:
3691:
3687:
3683:
3679:
3675:
3671:
3667:
3660:
3657:
3652:
3648:
3643:
3638:
3633:
3628:
3624:
3620:
3616:
3609:
3606:
3601:
3597:
3593:
3589:
3585:
3581:
3577:
3573:
3566:
3563:
3552:on 2019-08-01
3551:
3547:
3541:
3538:
3535:
3531:
3530:
3523:
3520:
3517:
3513:
3512:
3505:
3502:
3499:
3495:
3494:
3487:
3484:
3479:
3475:
3470:
3465:
3460:
3455:
3451:
3447:
3443:
3436:
3433:
3427:
3422:
3418:
3414:
3410:
3403:
3400:
3389:
3385:
3379:
3376:
3365:
3361:
3355:
3352:
3341:
3337:
3330:
3327:
3316:
3312:
3306:
3303:
3292:on 2019-08-01
3291:
3287:
3281:
3278:
3273:
3269:
3264:
3259:
3255:
3251:
3247:
3243:
3239:
3232:
3229:
3224:
3220:
3215:
3210:
3206:
3202:
3198:
3194:
3190:
3183:
3180:
3168:
3164:
3157:
3154:
3138:
3132:
3129:
3117:
3116:Investors Hub
3113:
3107:
3104:
3099:
3093:
3079:on 2016-11-19
3078:
3074:
3068:
3065:
3060:
3056:
3051:
3046:
3041:
3036:
3032:
3028:
3024:
3017:
3014:
3009:
3005:
3001:
2997:
2990:
2987:
2982:
2978:
2973:
2968:
2964:
2960:
2956:
2952:
2948:
2941:
2938:
2935:
2931:
2926:
2923:
2918:
2914:
2910:
2904:
2900:
2893:
2891:
2887:
2883:
2879:
2875:
2874:
2868:
2865:
2861:
2857:
2853:
2852:
2846:
2843:
2839:
2835:
2831:
2830:
2824:
2821:
2816:
2812:
2808:
2804:
2800:
2796:
2792:
2788:
2781:
2778:
2774:
2770:
2766:
2765:
2759:
2756:
2752:
2748:
2744:
2743:
2737:
2734:
2730:
2726:
2722:
2721:
2715:
2712:
2709:
2705:
2704:
2698:
2695:
2691:
2687:
2683:
2682:
2676:
2673:
2669:
2665:
2661:
2660:
2654:
2651:
2647:
2643:
2639:
2638:
2632:
2629:
2626:
2621:
2618:
2607:on 2015-07-27
2603:
2596:
2590:
2587:
2582:
2578:
2573:
2568:
2564:
2560:
2557:(2): 142â67.
2556:
2552:
2548:
2541:
2538:
2533:
2529:
2525:
2521:
2517:
2513:
2505:
2502:
2497:
2493:
2488:
2483:
2478:
2473:
2469:
2465:
2464:J. Biol. Chem
2461:
2454:
2451:
2446:
2442:
2438:
2434:
2430:
2426:
2422:
2418:
2411:
2408:
2402:
2401:
2396:
2390:
2387:
2382:
2378:
2374:
2370:
2365:
2360:
2356:
2352:
2349:(4): 607â15.
2348:
2344:
2336:
2333:
2322:
2318:
2312:
2309:
2304:
2300:
2294:
2291:
2288:
2287:
2282:
2277:
2274:
2267:
2265:
2262:
2258:
2254:
2250:
2245:
2238:
2236:
2234:
2230:
2226:
2222:
2218:
2214:
2210:
2206:
2202:
2197:
2195:
2189:
2187:
2183:
2179:
2175:
2170:
2168:
2161:
2159:
2156:
2152:
2149:
2145:
2141:
2136:
2134:
2130:
2126:
2123:
2122:polyglutamine
2119:
2115:
2111:
2105:
2099:
2094:
2088:
2086:
2085:Rare Diseases
2083:'s Office of
2082:
2078:
2075:
2073:
2070:
2067:
2066:
2063:
2061:
2060:Rare Diseases
2058:'s Office of
2057:
2053:
2050:
2048:
2045:
2042:
2041:
2038:
2036:
2035:Rare Diseases
2033:'s Office of
2032:
2028:
2025:
2023:
2020:
2017:
2016:
2013:
2011:
2010:Rare Diseases
2008:'s Office of
2007:
2003:
2000:
1998:
1995:
1992:
1991:
1988:
1985:
1983:
1981:
1977:
1974:
1972:
1968:
1967:
1964:
1962:
1961:Rare Diseases
1959:'s Office of
1958:
1954:
1951:
1949:
1946:
1943:
1942:
1939:
1937:
1936:Rare Diseases
1934:'s Office of
1933:
1929:
1926:
1924:
1921:
1918:
1917:
1914:
1912:
1911:Rare Diseases
1909:'s Office of
1908:
1904:
1901:
1899:
1896:
1893:
1892:
1889:
1887:
1886:Rare Diseases
1884:'s Office of
1883:
1879:
1876:
1874:
1871:
1868:
1867:
1864:
1862:
1861:Rare Diseases
1859:'s Office of
1858:
1854:
1851:
1849:
1846:
1844:
1841:
1840:
1837:
1833:
1830:
1828:
1827:Rare Diseases
1825:'s Office of
1824:
1820:
1817:
1815:
1812:
1811:
1808:
1806:
1805:Rare Diseases
1803:'s Office of
1802:
1798:
1795:
1793:
1790:
1787:
1786:
1783:
1781:
1780:Rare Diseases
1778:'s Office of
1777:
1773:
1770:
1768:
1765:
1762:
1761:
1758:
1756:
1755:Rare Diseases
1753:'s Office of
1752:
1748:
1745:
1743:
1740:
1737:
1736:
1733:
1731:
1730:Rare Diseases
1728:'s Office of
1727:
1723:
1720:
1718:
1715:
1712:
1711:
1708:
1706:
1705:Rare Diseases
1703:'s Office of
1702:
1698:
1695:
1693:
1690:
1687:
1686:
1683:
1681:
1680:Rare Diseases
1678:'s Office of
1677:
1673:
1670:
1668:
1665:
1662:
1661:
1658:
1656:
1655:Rare Diseases
1653:'s Office of
1652:
1648:
1645:
1643:
1640:
1637:
1636:
1633:
1631:
1630:Rare Diseases
1628:'s Office of
1627:
1623:
1620:
1618:
1615:
1612:
1611:
1608:
1606:
1605:Rare Diseases
1603:'s Office of
1602:
1598:
1595:
1593:
1590:
1587:
1586:
1583:
1581:
1580:Rare Diseases
1578:'s Office of
1577:
1573:
1570:
1568:
1565:
1562:
1561:
1558:
1556:
1555:Rare Diseases
1553:'s Office of
1552:
1548:
1545:
1543:
1540:
1537:
1536:
1533:
1531:
1530:Rare Diseases
1528:'s Office of
1527:
1523:
1520:
1518:
1515:
1512:
1511:
1508:
1506:
1505:Rare Diseases
1503:'s Office of
1502:
1498:
1495:
1493:
1490:
1487:
1486:
1483:
1481:
1480:Rare Diseases
1478:'s Office of
1477:
1473:
1470:
1468:
1465:
1462:
1461:
1458:
1456:
1455:Rare Diseases
1453:'s Office of
1452:
1448:
1445:
1443:
1440:
1437:
1436:
1433:
1431:
1430:Rare Diseases
1428:'s Office of
1427:
1423:
1420:
1418:
1415:
1412:
1411:
1408:
1406:
1405:Rare Diseases
1403:'s Office of
1402:
1398:
1395:
1393:
1390:
1387:
1386:
1383:
1381:
1380:Rare Diseases
1378:'s Office of
1377:
1373:
1370:
1368:
1365:
1362:
1361:
1358:
1356:
1355:Rare Diseases
1353:'s Office of
1352:
1348:
1345:
1343:
1340:
1337:
1336:
1333:
1331:
1330:Rare Diseases
1328:'s Office of
1327:
1323:
1320:
1318:
1315:
1312:
1311:
1308:
1306:
1305:Rare Diseases
1303:'s Office of
1302:
1298:
1295:
1293:
1290:
1287:
1286:
1282:
1280:RareDiseases
1279:
1277:
1274:
1271:
1270:
1267:
1266:
1263:
1259:
1255:
1251:
1247:
1242:
1240:
1236:
1232:
1228:
1224:
1220:
1216:
1207:
1204:
1202:
1199:
1196:
1193:
1190:
1189:
1186:
1183:
1181:
1178:
1175:
1172:
1169:
1168:
1164:
1160:
1158:
1155:
1153:
1152:hyperreflexia
1149:
1145:
1141:
1137:
1133:
1129:
1125:
1121:
1118:
1115:
1113:
1110:
1109:
1105:
1102:
1099:
1095:
1091:
1087:
1084:
1081:
1078:
1075:
1071:
1068:
1067:
1063:
1060:
1057:
1054:
1050:
1046:
1043:
1039:
1036:
1033:
1030:
1028:
1025:
1024:
1020:
1017:
1015:
1011:
1008:
1004:
1001:
998:
995:
991:
987:
984:
983:
979:
975:
972:
970:
968:
966:
963:
959:
958:
954:
951:
949:
946:
942:
939:
936:
931:
928:
924:
923:
919:
916:
913:
909:
905:
901:
898:
893:
888:
885:
881:
880:
876:
873:
871:
868:
865:
862:Depending on
861:
858:
855:
851:
848:
847:
843:
839:
836:
833:
829:
824:
821:
817:
814:
811:
806:
803:
799:
798:
794:
791:
788:
785:Mild, remain
784:
781:
776:
773:
769:
768:
765:
759:
756:
754:
751:
749:
745:
742:
739:
736:
733:
729:
728:
724:
720:
717:
714:
710:
706:
703:
700:
697:
692:
689:
685:
684:
680:
676:
672:
669:
666:
662:
659:
654:
649:
646:
642:
641:
638:
634:
629:
625:
622:
619:
615:
612:, positional
611:
607:
605:>25 years
604:
599:
596:
592:
589:
588:
585:
584:Chromosome 11
582:
579:
577:
573:
571:>25 years
570:
565:
562:
558:
557:
554:
551:
548:
545:
542:
538:
535:
532:
527:
524:
520:
519:
515:
511:
508:
503:
500:
496:
491:
488:
484:
478:
474:
469:
464:
461:
457:
456:
452:
448:
446:
443:
440:
437:
433:
428:
423:
418:
415:
411:
410:
406:
402:
398:
395:
391:
387:
383:
378:
373:
370:
366:
363:
362:
359:
353:
350:
347:
342:
338:Average Onset
337:
334:
333:
330:
328:
323:
319:
317:
313:
312:polyglutamine
308:
306:
302:
294:
289:
283:
276:
271:
267:
260:
255:
250:
246:
242:
238:
234:
230:
226:
222:
217:
214:
210:
206:
202:
198:
194:
191:
187:
182:
178:
177:
176:
174:
170:
166:
162:
158:
154:
146:
144:
142:
137:
135:
131:
126:
122:
118:
110:
108:
106:
102:
98:
94:
90:
86:
76:
70:
67:
65:
61:
57:
53:
49:
44:
40:
36:
31:
19:
5870:
5846:
5824:
5818:ARC syndrome
5810:
5778:
5764:
5736:
5722:
5688:
5681:
5653:
5625:
5597:
5580:Cytoskeleton
5556:
5542:
5520:
5498:
5463:
5449:
5435:
5410:
5388:
5360:
5346:
5340:
5265:
5225:
5218:
5173:
5134:anticipation
5072:
4971:
4944:
4913:
4905:Degenerative
4642:Inflammatory
4589:
4522:Stiff-person
4360:Parkinsonism
4333:Degenerative
4230:Encephalitis
4213:Inflammation
4203:, primarily
4150:
4139:
4128:
4113:
4098:
4044:
4033:
4022:
4011:
3971:
3967:
3920:
3897:
3874:
3855:
3837:
3790:
3786:
3776:
3743:
3739:
3733:
3722:. Retrieved
3715:the original
3702:
3669:
3665:
3659:
3622:
3618:
3608:
3575:
3571:
3565:
3554:. Retrieved
3550:the original
3540:
3527:
3522:
3509:
3504:
3491:
3486:
3449:
3445:
3435:
3416:
3412:
3402:
3391:. Retrieved
3387:
3378:
3367:. Retrieved
3363:
3354:
3343:. Retrieved
3339:
3329:
3318:. Retrieved
3314:
3305:
3294:. Retrieved
3290:the original
3280:
3245:
3241:
3231:
3196:
3192:
3182:
3170:. Retrieved
3166:
3156:
3144:. Retrieved
3131:
3119:. Retrieved
3115:
3106:
3081:. Retrieved
3077:the original
3067:
3030:
3026:
3016:
2999:
2989:
2954:
2950:
2940:
2925:
2898:
2871:
2867:
2849:
2845:
2827:
2823:
2790:
2786:
2780:
2762:
2758:
2740:
2736:
2718:
2714:
2701:
2697:
2679:
2675:
2657:
2653:
2635:
2631:
2620:
2609:. Retrieved
2602:the original
2589:
2554:
2550:
2540:
2515:
2504:
2467:
2463:
2453:
2420:
2416:
2410:
2399:
2389:
2346:
2342:
2335:
2324:. Retrieved
2320:
2311:
2302:
2293:
2284:
2276:
2242:
2198:
2190:
2171:
2165:
2157:
2153:
2137:
2106:
2103:
1987:ORPHA:466794
1265:
1243:
1212:
1142:, spasmodic
1116:40â48 years
1106:FGF14 13q34
608:Downbeating
539:(absence of
536:
481:Gaze-evoked
475:Also called
458:SCA3 (MJD) (
434:(absence of
431:
384:Hypermetric
326:
324:
320:
309:
298:
196:
185:
150:
138:
114:
97:degenerative
88:
84:
83:
5617:Microtubule
5057:FazioâLonde
4897:Both/either
4691:Generalised
4550:Early-onset
4545:Alzheimer's
4280:spinal cord
3936:GeneReviews
3932:. NBK54582.
3913:GeneReviews
3890:GeneReviews
3529:NCT03759665
3511:NCT03759639
3493:NCT03759678
3000:GeneReviews
2364:11336/30194
2148:orphan drug
2146:status and
2129:daily tasks
2108:stiffness,
1144:torticollis
1094:dyskinesias
1031:1.5â39 yrs
937:1â40 years
914:disorders)
709:oscillatory
487:oscillatory
161:chromosomal
93:progressive
38:Other names
5887:Categories
5332:Melanosome
4665:paroxysmal
4637:Autoimmune
4430:Dyskinesia
4300:Meningitis
4278:Brain and
4152:DiseasesDB
3909:. NBK1225.
3886:. NBK1154.
3849:. NBK1138.
3724:2012-05-10
3625:: 583507.
3556:2019-08-01
3546:"IntraBio"
3419:(1): 1â5.
3393:2019-08-01
3369:2019-08-01
3345:2019-08-01
3320:2019-08-01
3296:2019-08-01
3286:"IntraBio"
3172:14 October
3146:14 October
3121:14 October
3083:2017-01-26
3033:: 583507.
2917:2007923539
2611:2017-01-25
2423:: 120472.
2326:2024-09-17
2321:rc.umn.edu
2268:References
2253:wheelchair
2144:Fast Track
2114:spasticity
2110:depression
2100:Medication
1832:ORPHA:2074
1797:Disease ID
1194:Adulthood
1128:dysarthria
1079:15â20 yrs
1045:neuropathy
1014:dysarthria
1007:cerebellar
902:(a sudden
834:movement)
787:ambulatory
702:Horizontal
576:cerebellar
541:neurologic
465:4th decade
436:neurologic
374:4th decade
249:DNA repair
153:hereditary
134:cerebellum
56:Cerebellum
5871:See also
4662:Episodic/
4540:Tauopathy
4491:Akathisia
4479:Myoclonus
4462:Athetosis
4394:Tauopathy
3998:238859984
2884:GeneTests
2862:GeneTests
2840:GeneTests
2775:GeneTests
2753:GeneTests
2731:GeneTests
2692:GeneTests
2670:GeneTests
2648:GeneTests
2532:1546-1718
2445:253156325
2209:Tay-Sachs
2140:trehalose
2095:Treatment
904:twitching
900:Myoclonus
737:36 years
705:nystagmus
652:(0.5â60)
610:nystagmus
537:areflexia
483:nystagmus
432:areflexia
335:SCA Type
290:Diagnosis
69:Neurology
64:Specialty
5756:Caveolae
5673:Spectrin
5418:CDOG IIE
5328:Lysosome
5028:SMALED2B
5023:SMALED2A
4720:Migraine
4712:Headache
4678:epilepsy
4674:Seizures
4532:Dementia
4435:Dystonia
3990:34647648
3952:(OMIM):
3943:(OMIM):
3930:21595125
3907:20301404
3884:20301333
3865:20301295
3847:20301317
3817:23764699
3809:22140200
3768:11008654
3760:19412936
3694:40374830
3686:21321055
3651:24877117
3600:56148131
3592:30547273
3478:27073690
3452:(1): 8.
3272:21952166
3223:26490326
3092:cite web
3059:24877117
3008:25577942
2981:27470939
2932:(OMIM):
2807:14526178
2581:25608779
2518:: 1â10.
2496:32060097
2437:36403298
2381:74661673
2373:24765663
2233:migraine
2213:Sandhoff
1978:(OMIM):
1836:Orphanet
1197:Decades
1176:Decades
1119:Unknown
1082:Unknown
1049:vomiting
1034:Unknown
1010:syndrome
934:(20â66)
891:(12â42)
828:akinesia
779:(15â70)
748:seizures
740:9 years
695:(18â65)
679:Ataxin 7
655:20 years
635:channel
618:Symptoms
602:(19â71)
568:(10â68)
544:reflexes
533:Decades
530:(19â72)
507:Portugal
470:10 years
467:(10â70)
439:reflexes
424:10 years
405:Ataxin 1
386:saccades
381:(10â35)
379:15 years
354:Problems
5645:Kinesin
5264:ATTCT (
5040:SMA-PME
5035:SMA-PCH
5018:SMALED1
4730:Tension
4725:Cluster
4450:Meige's
4267:Amoebic
4146:D020754
3642:4022207
3469:4828858
3263:3242660
3214:4840549
3050:4022207
2972:5266678
2815:2292926
2572:4454471
2487:7105313
2188:(EMA).
1103:
1061:
1042:sensory
1021:
1018:
1002:
999:
973:
960:SCA17 (
952:
925:SCA16 (
917:
908:muscles
896:(1â30)
894:Decades
882:SCA14 (
874:
837:
812:
809:(8â55)
802:PPP2R2B
800:SCA12 (
792:
770:SCA11 (
730:SCA10 (
718:
713:eyeball
677:, 3p (
670:
633:Calcium
623:
614:vertigo
595:CACNA1A
580:
549:
523:PLEKHG4
472:(1â20)
426:(1â30)
396:
322:found.
243:during
132:of the
130:atrophy
91:) is a
5826:VPS13B
5812:VPS33B
5724:SNAP29
5683:SPTBN2
5589:Myosin
5522:RAB27A
5390:SEC23A
5246:CCTG (
4759:Stroke
4573:Pick's
4500:Tremor
4467:Chorea
4135:164400
3996:
3988:
3928:
3905:
3882:
3863:
3845:
3815:
3807:
3766:
3758:
3692:
3684:
3649:
3639:
3598:
3590:
3476:
3466:
3270:
3260:
3221:
3211:
3057:
3047:
3006:
2979:
2969:
2934:609307
2915:
2905:
2813:
2805:
2579:
2569:
2530:
2494:
2484:
2443:
2435:
2379:
2371:
2231:, and
2116:, and
2072:301840
2047:301790
2022:302600
1997:607250
1980:616719
1948:608029
1923:606937
1898:607317
1873:271250
1848:606002
1792:613908
1767:117360
1742:610246
1717:609306
1692:608703
1667:610245
1642:607454
1617:608687
1592:607346
1567:607458
1542:605259
1517:603680
1492:164500
1467:600224
1442:600223
1417:109150
1392:183090
1367:164400
1342:605361
1317:229300
1292:301310
1283:Other
1258:301840
1254:301790
1250:302600
1246:302500
1237:, and
1191:SCA37
1170:SCA36
1124:ataxia
1098:tremor
1086:ataxia
1038:ataxia
978:repeat
948:tremor
932:39 yrs
889:28 yrs
842:repeat
832:muscle
823:tremor
807:33 yrs
777:30 yrs
764:repeat
760:linked
753:Mexico
744:ataxia
732:ATXN10
725:, 13q
723:repeat
693:39 yrs
686:SCA8 (
675:repeat
643:SCA7 (
628:repeat
561:SPTBN2
559:SCA5 (
521:SCA4 (
516:, 14q
514:repeat
502:Azores
490:motion
453:, 12q
451:repeat
412:SCA2 (
403:, 6p (
401:repeat
221:allele
117:ataxia
71:
5738:STX11
5655:KIF5A
5599:MYO5A
5471:CPSQ3
5465:AP4M1
5451:AP3B1
5437:AP1S2
5380:COPII
5224:CAG (
5217:CTG (
5210:CTG (
5203:GAA (
5196:CGG (
5073:both:
5005:DSMA1
5000:SMAX2
4995:SMAX1
4975:only:
4948:only:
4852:Other
4774:Other
4686:Focal
4319:Brain
4222:Brain
4157:12339
4109:G11.1
4040:NINDS
4029:NINDS
4018:NINDS
3994:S2CID
3813:S2CID
3764:S2CID
3718:(PDF)
3711:(PDF)
3690:S2CID
3596:S2CID
3193:Brain
3167:Vimeo
3140:(PDF)
2873:sca14
2851:sca12
2829:sca10
2811:S2CID
2708:NINDS
2605:(PDF)
2598:(PDF)
2441:S2CID
2377:S2CID
1971:SCYL1
1272:Name
1262:SCAX1
1239:SCA29
1235:SCA28
1231:SCA26
1227:SCA23
1223:SCA21
1219:SCA20
1215:SCA18
1185:NOP56
1157:China
1112:SCA35
1088:with
1074:FGF14
1070:SCA27
1040:with
1027:SCA25
1005:Mild
994:KCND3
990:SCA22
986:SCA19
927:ITPR1
912:brain
884:PRKCG
864:KCNC3
854:KCNC3
850:SCA13
844:, 5q
772:TTBK2
688:IOSCA
645:ATXN7
630:, 19p
574:Pure
479:(MJD)
460:ATXN3
414:ATXN2
369:ATXN1
356:with
171:, or
147:Cause
5848:DYSF
5780:CAV3
5766:CAV1
5627:SPG4
5558:MLPH
5506:BBS3
5500:ARL6
5429:APC:
5412:COG7
5362:LYST
5348:HPS7
5342:HPS1
4676:and
4387:PKAN
4382:NBIA
4141:MeSH
4130:OMIM
4119:9-CM
3986:PMID
3926:PMID
3903:PMID
3880:PMID
3861:PMID
3843:PMID
3805:PMID
3756:PMID
3682:PMID
3647:PMID
3623:2014
3588:PMID
3474:PMID
3268:PMID
3219:PMID
3174:2017
3148:2017
3123:2017
3098:link
3055:PMID
3031:2014
3004:PMID
2977:PMID
2913:LCCN
2903:ISBN
2803:PMID
2764:sca8
2742:sca7
2720:sca6
2681:sca3
2659:sca2
2637:sca1
2577:PMID
2528:ISSN
2492:PMID
2433:PMID
2369:PMID
2257:gait
2211:and
2203:and
1276:OMIM
1206:DAB1
1163:TGM6
1150:and
1096:and
1056:pain
1051:and
976:CAG
945:hand
943:and
941:Head
920:19q
877:19q
840:CAG
820:hand
818:and
816:Head
795:15q
721:CTG
673:CAG
637:gene
626:CAG
591:SCA6
512:CAG
449:CAG
445:Cuba
399:CAG
365:SCA1
157:gene
151:The
5544:CHM
5487:Rab
4990:SMA
4973:LMN
4946:UMN
4937:MND
4803:CSF
4754:TIA
4399:PSP
4375:NMS
4344:and
4205:CNS
4124:334
4115:ICD
4100:ICD
4073:NIH
4071:at
4060:NIH
4058:at
4038:at
4027:at
4016:at
3976:doi
3934:In
3911:In
3888:In
3851:In
3795:doi
3748:doi
3674:doi
3637:PMC
3627:doi
3580:doi
3576:266
3464:PMC
3454:doi
3421:doi
3258:PMC
3250:doi
3209:PMC
3201:doi
3197:138
3045:PMC
3035:doi
2967:PMC
2959:doi
2955:161
2878:NIH
2876:at
2856:NIH
2854:at
2834:NIH
2832:at
2795:doi
2791:100
2769:NIH
2767:at
2747:NIH
2745:at
2725:NIH
2723:at
2706:at
2686:NIH
2684:at
2664:NIH
2662:at
2642:NIH
2640:at
2567:PMC
2559:doi
2520:doi
2482:PMC
2472:doi
2468:295
2425:doi
2421:443
2359:hdl
2351:doi
2283:at
2081:NIH
2079:at
2056:NIH
2054:at
2031:NIH
2029:at
2006:NIH
2004:at
1957:NIH
1955:at
1932:NIH
1930:at
1907:NIH
1905:at
1882:NIH
1880:at
1857:NIH
1855:at
1834:at
1823:NIH
1821:at
1801:NIH
1799:at
1776:NIH
1774:at
1751:NIH
1749:at
1726:NIH
1724:at
1701:NIH
1699:at
1676:NIH
1674:at
1651:NIH
1649:at
1626:NIH
1624:at
1601:NIH
1599:at
1576:NIH
1574:at
1551:NIH
1549:at
1526:NIH
1524:at
1501:NIH
1499:at
1476:NIH
1474:at
1451:NIH
1449:at
1426:NIH
1424:at
1401:NIH
1399:at
1376:NIH
1374:at
1351:NIH
1349:at
1326:NIH
1324:at
1301:NIH
1299:at
1256:,
1252:,
1248:,
1064:2p
962:TBP
955:8q
906:of
358:DNA
247:or
233:DNA
231:in
159:or
89:SCA
5889::
5788:,
5311:/
5132::
4914:SA
4421:OA
4416:HD
4365:PD
4155::
4144::
4133::
4122::
4107::
4104:10
4049::
3992:.
3984:.
3972:37
3970:.
3966:.
3811:.
3803:.
3791:26
3789:.
3785:.
3762:.
3754:.
3744:24
3742:.
3688:.
3680:.
3670:25
3668:.
3645:.
3635:.
3621:.
3617:.
3594:.
3586:.
3574:.
3472:.
3462:.
3448:.
3444:.
3415:.
3411:.
3386:.
3362:.
3338:.
3313:.
3266:.
3256:.
3246:19
3244:.
3240:.
3217:.
3207:.
3195:.
3191:.
3165:.
3114:.
3094:}}
3090:{{
3053:.
3043:.
3029:.
3025:.
2975:.
2965:.
2953:.
2949:.
2911:.
2889:^
2882:UW
2860:UW
2838:UW
2809:.
2801:.
2789:.
2773:UW
2751:UW
2729:UW
2690:UW
2668:UW
2646:UW
2575:.
2565:.
2555:50
2553:.
2549:.
2526:.
2514:.
2490:.
2480:.
2466:.
2462:.
2439:.
2431:.
2419:.
2397:.
2375:.
2367:.
2357:.
2347:21
2345:.
2319:.
2301:.
2235:.
2227:,
2223:,
2219:,
2112:,
1264:).
1241:.
1233:,
1229:,
1225:,
1221:,
1217:,
1138:,
1134:,
1130:,
1126:,
1100:.
1092:,
1076:)
1058:.
1047:,
1012:,
996:)
988:,
964:)
929:)
886:)
856:)
804:)
774:)
746:,
734:)
690:)
681:)
663:,
647:)
597:)
563:)
546:)
525:)
509:)
462:)
441:)
416:)
407:)
371:)
329:.
203:,
175:.
167:,
99:,
95:,
5804::
5758::
5716::
5675::
5647::
5619::
5591::
5382::
5345:â
5334::
5330:/
5301:e
5294:t
5287:v
5268:)
5250:)
5228:)
5221:)
5214:)
5207:)
5200:)
5180:)
5176:(
5122:e
5115:t
5108:v
4566:/
4321:/
4192:e
4185:t
4178:v
4117:-
4102:-
4092:D
4000:.
3978::
3867:.
3819:.
3797::
3770:.
3750::
3727:.
3696:.
3676::
3653:.
3629::
3602:.
3582::
3559:.
3480:.
3456::
3450:3
3429:.
3423::
3417:2
3396:.
3372:.
3348:.
3323:.
3299:.
3274:.
3252::
3225:.
3203::
3176:.
3150:.
3125:.
3100:)
3086:.
3061:.
3037::
3010:.
2983:.
2961::
2919:.
2880:/
2858:/
2836:/
2817:.
2797::
2771:/
2749:/
2727:/
2688:/
2666:/
2644:/
2614:.
2583:.
2561::
2534:.
2522::
2498:.
2474::
2447:.
2427::
2383:.
2361::
2353::
2329:.
2305:.
2207:(
1072:(
992:(
852:(
825:,
593:(
505:(
367:(
251:.
215:.
87:(
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
