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Gan, Joanna J.; Garcia, Virginie; Tian, Jane; Tagliati, Michele; Parisi, Joseph E.; Chung, Jeffrey M.; Lewis, Richard; Baloh, Robert; Levade, Thierry; Pierson, Tyler Mark (2015-12-01). "Acid ceramidase deficiency associated with spinal muscular atrophy with progressive myoclonic epilepsy".
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Haliloglu, G.; Chattopadhyay, A.; Skorodis, L.; Manzur, A.; Mercuri, E.; Talim, B.; Akçören, Z.; Renda, Y.; Muntoni, F.; Topaloğlu, H. (2002). "Spinal
Muscular Atrophy with Progressive Myoclonic Epilepsy: Report of New Cases and Review of the Literature".
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263:
Zhou, J.; Tawk, M.; Tiziano, F. D.; Veillet, J.; Bayes, M.; Nolent, F.; Garcia, V.; Servidei, S.; Bertini, E.; Castro-Giner, F.; Renda, Y.; Carpentier, S. P.; Andrieu-Abadie, N.; Gut, I.; Levade, T.; Topaloglu, H.; Melki, J. (2012).
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and increase transmission rate. In patients with SMA-PME, the ceramidase function decreases to 33.33% effective. The lack of myelin resulting from the lack of acid ceramidase breakdown leads to nerve cell dysfunction.
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266:"Spinal Muscular Atrophy Associated with Progressive Myoclonic Epilepsy is Caused by Mutations in ASAH1"
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Jankovic, J.; Rivera, V. M. (1979). "Hereditary myoclonus and progressive distal muscular atrophy".
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97:. Only 12 known human families are described in scientific literature to have SMA-PME.
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Rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting
485:"Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic epilepsy"
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Basic
Neurochemistry: Molecular, Cellular and Medical Aspects. 6th Edition
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manner. SMA-PME is closely related to a lysosomal disorder disease called
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Spinal muscular atrophy with lower extremity predominance (SMALED)
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The condition was first described in 1979 by
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Systemic atrophies primarily affecting the central nervous system
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Hereditary myoclonus-progressive distal muscular atrophy syndrome
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disease whose symptoms include slowly progressive muscle loss (
240:"Spinal muscular atrophy with progressive myoclonic epilepsy"
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This condition is inherited in an autosomal recessive manner
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Spinal muscular atrophy with progressive myoclonic epilepsy
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Spinal muscular atrophy with progressive myoclonic epilepsy
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Park, Jae-Ho; Schuchman, Edward H. (December 2006).
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1390:Distal hereditary motor neuronopathies
1063:Template:Demyelinating diseases of CNS
270:The American Journal of Human Genetics
133:, there is no known cure for SMA-PME.
7:
1241:Idiopathic intracranial hypertension
233:
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410:"Acid ceramidase and human disease"
1472:Infantile progressive bulbar palsy
14:
1175:Template:Cerebrovascular diseases
978:Frontotemporal lobar degeneration
1195:For more detailed coverage, see
1173:For more detailed coverage, see
1144:For more detailed coverage, see
1110:For more detailed coverage, see
1061:For more detailed coverage, see
180:Progressive myoclonus epilepsy
1:
1529:Autosomal recessive disorders
1488:Amyotrophic lateral sclerosis
1373:Hereditary spastic paraplegia
1231:Normal pressure hydrocephalus
481:National Institutes of Health
100:SMA-PME is associated with a
1457:Progressive muscular atrophy
427:10.1016/j.bbamem.2006.08.019
967:Primary progressive aphasia
82:), predominantly affecting
1545:
1289:Hashimoto's encephalopathy
995:Posterior cortical atrophy
816:Striatonigral degeneration
667:Cavernous sinus thrombosis
282:10.1016/j.ajhg.2012.05.001
238:Reference, Genetics Home.
1395:Spinal muscular atrophies
1363:Primary lateral sclerosis
1221:Intracranial hypertension
1001:Creutzfeldt–Jakob disease
328:10.1016/j.nmd.2015.09.007
175:Spinal muscular atrophies
148:The ASAH1 gene codes for
127:Farber lipogranulomatosis
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37:
1462:Progressive bulbar palsy
1253:Intracranial hypotension
1236:Choroid plexus papilloma
650:Herpesviral encephalitis
72:Jankovic–Rivera syndrome
1524:Spinal muscular atrophy
974:Frontotemporal dementia
660:Encephalitis lethargica
316:Neuromuscular Disorders
244:Genetics Home Reference
121:and is inherited in an
86:muscles, combined with
1279:Hepatic encephalopathy
140:and Victor M. Rivera.
1337:Ataxia–telangiectasia
1294:Static encephalopathy
1017:Mitochondrial disease
855:Spasmodic torticollis
765:Basal ganglia disease
379:10.1002/ana.410060309
152:, an enzyme found in
1284:Toxic encephalopathy
990:Lewy bodies dementia
214:10.1055/s-2002-37087
70:), sometimes called
1332:Friedreich's ataxia
715:Meningoencephalitis
655:Limbic encephalitis
459:"The Myelin Sheath"
367:Annals of Neurology
123:autosomal recessive
1368:Pseudobulbar palsy
1106:Status epilepticus
1057:Multiple sclerosis
894:Myoclonic epilepsy
757:movement disorders
703:Acute disseminated
645:Viral encephalitis
553:External resources
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1146:Template:Headache
1112:Template:Epilepsy
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1007:Vascular dementia
850:Status dystonicus
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698:Encephalomyelitis
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483:(December 2013).
420:(12): 2133–2138.
131:genetic disorders
102:missense mutation
76:neurodegenerative
74:, is a very rare
61:
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19:Medical condition
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1269:Brain herniation
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920:Intention tremor
915:Essential tremor
780:Postencephalitic
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322:(12): 959–963.
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150:acid ceramidase
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138:Joseph Jankovic
129:. As with many
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865:Blepharospasm
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1315:Degenerative
1052:Inflammatory
999:
932:Stiff-person
770:Parkinsonism
743:Degenerative
640:Encephalitis
623:Inflammation
613:, primarily
560:
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247:. Retrieved
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135:
113:
99:
71:
67:
63:
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1467:Fazio–Londe
1307:Both/either
1101:Generalised
960:Early-onset
955:Alzheimer's
690:spinal cord
276:(1): 5–14.
88:denervation
30:Other names
1513:Categories
1075:paroxysmal
1047:Autoimmune
840:Dyskinesia
710:Meningitis
688:Brain and
249:2018-09-24
186:References
144:ASAH1 gene
1072:Episodic/
950:Tauopathy
901:Akathisia
889:Myoclonus
872:Athetosis
804:Tauopathy
436:0006-3002
336:0960-8966
154:lysosomes
112:2 of the
92:myoclonic
57:Neurology
53:Specialty
1438:SMALED2B
1433:SMALED2A
1130:Migraine
1122:Headache
1088:epilepsy
1084:Seizures
942:Dementia
845:Dystonia
562:Orphanet
444:17064658
395:34843480
352:25574559
344:26526000
300:22703880
222:12571787
169:See also
106:deletion
95:seizures
84:proximal
1450:SMA-PME
1445:SMA-PCH
1428:SMALED1
1140:Tension
1135:Cluster
860:Meige's
677:Amoebic
543:C537563
522:: G25.3
291:3397266
80:atrophy
68:SMA-PME
1169:Stroke
983:Pick's
910:Tremor
877:Chorea
532:159950
442:
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393:
387:534421
385:
350:
342:
334:
298:
288:
220:
158:myelin
1483:both:
1415:DSMA1
1410:SMAX2
1405:SMAX1
1385:only:
1358:only:
1262:Other
1184:Other
1096:Focal
729:Brain
632:Brain
391:S2CID
348:S2CID
115:ASAH1
1086:and
797:PKAN
792:NBIA
567:2590
538:MeSH
527:OMIM
440:PMID
432:ISSN
418:1758
383:PMID
340:PMID
332:ISSN
296:PMID
218:PMID
162:axon
119:gene
110:exon
90:and
1400:SMA
1383:LMN
1356:UMN
1347:MND
1213:CSF
1164:TIA
809:PSP
785:NMS
754:and
615:CNS
515:ICD
422:doi
375:doi
324:doi
286:PMC
278:doi
210:doi
108:in
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1324:SA
831:OA
826:HD
775:PD
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541::
530::
519:10
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274:91
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230:^
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588:v
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