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challenging to find any patients with GSS, as the disease tends to be underreported, due to its clinical similarity to other diseases, and has been found in only a few countries. In 1989, the first mutation of the prion protein gene was identified in a GSS family. The largest of these families affected by GSS is the
Indiana Kindred, spanning over 8 generations, and includes over 3,000 people, with 57 individuals known to be affected. GSS was later realized to have many different gene mutation types, varying in symptom severity, timing and progression. Doctors in different parts of the world are in the process of uncovering more generations and families who have the mutation.
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followed by a slower drift back to the original position) and deafness may develop. Muscle coordination is lost (called ataxia). The muscles may become stiff. Usually, the muscles that control breathing and coughing are impaired, resulting in a high risk of pneumonia, which is the most common cause of death.
296:
There is no cure for GSS, nor is there any known treatment to slow the progression of the disease. Therapies and medication are aimed at treating or slowing down the effects of the symptoms. The goal of these treatments is to try to improve the patient's quality of life as much as possible. There is
195:
becomes more evident. In the early stages of GSS, people with the condition may also exhibit clumsiness and experience difficulty walking. As the condition progresses, symptoms of ataxia become more pronounced. Loss of memory can be the first symptom of GSS. Extrapyramidal and pyramidal symptoms and
320:
Prion diseases, also called transmissible spongiform encephalopathies (TSEs), are neurodegenerative diseases of the brain thought to be caused by a protein that converts to an abnormal form called a prion. GSS is a very rare TSE, making its genetic origin nearly impossible to determine. It is also
308:
Symptoms as clumsiness and unsteadiness when walking at the beginning of the illness. Muscle jerking (myoclonus) is much less common than in
Creutzfeldt-Jakob disease. Speaking becomes difficult (called dysarthria), and dementia develops. Nystagmus (rapid movement of the eyes in one direction,
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Tesar A, Matej R, Kukal J, Johanidesova S, Rektorova I, Vyhnalek M, Keller J, Eliasova I, Parobkova E, Smetakova M, Musova Z, Rusina R (November 2019). "Clinical
Variability in P102L Gerstmann-Sträussler-Scheinker Syndrome".
575:
Collins S, McLean CA, Masters CL (September 2001). "Gerstmann-Sträussler-Scheinker syndrome,fatal familial insomnia, and kuru: a review of these less common human transmissible spongiform encephalopathies".
288:. Testing for GSS involves a blood and DNA examination in order to attempt to detect the mutated gene at certain codons. If the genetic mutation is present, the patient will eventually develop GSS.
744:
Arata H, Takashima H, Hirano R, Tomimitsu H, Machigashira K, Izumi K, et al. (June 2006). "Early clinical signs and imaging findings in
Gerstmann-Sträussler-Scheinker syndrome (Pro102Leu)".
426:
Gerstmann J, Sträussler E, Scheinker I (1936). "Über eine eigenartige hereditär-familiäre
Erkrankung des Zentralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns".
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The disease ultimately results in death, most commonly from the patient either going into a coma, or from a secondary infection due to the patient's loss of bodily functions.
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that affects patients from 20 to 60 years in age. It is exclusively heritable, and is found in only a few families all over the world. It is, however, classified with the
895:
Hsiao K, Baker HF, Crow TJ, Poulter M, Owen F, Terwilliger JD, et al. (March 1989). "Linkage of a prion protein missense variant to
Gerstmann-Sträussler syndrome".
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38:
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Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B (November 1989). "Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum".
212:(involuntary movement of the eyes), visual disturbances, and even blindness or deafness. The neuropathological findings of GSS include widespread deposition of
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Four clinical phenotypes are recognized: typical GSS, GSS with areflexia and paresthesia, pure dementia GSS and
Creutzfeldt-Jakob disease-like GSS.
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239:. These prions then form clusters in the brain, which are responsible for the neurodegenerative effects seen in patients.
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some ongoing research to find a cure, with one of the most prominent examples being the PRN100 monoclonal antibody.
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GSS is a disease that progresses slowly, lasting roughly 2–10 years, with an average of approximately five years.
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Ghetti B, Tagliavini F, Takao M, Bugiani O, Piccardo P (March 2003). "Hereditary prion protein amyloidoses".
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De
Michele G, Pocchiari M, Petraroli R, Manfredi M, Caneve G, Coppola G, et al. (August 2003).
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695:"Prion protein misfolding, strains, and neurotoxicity: an update from studies on Mammalian prions"
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Ghetti B, Piccardo P, Frangione B, Bugiani O, Giaccone G, Young K, et al. (April 1996).
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Umeh CC, Kalakoti P, Greenberg MK, Notari S, Cohen Y, Gambetti P, et al. (2016-02-18).
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A person with inherited prion disease has cerebellar atrophy. This is quite typical of GSS.
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372:. Advances in Experimental Medicine and Biology. Vol. 724. pp. 128–37.
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463:"Variable phenotype in a P102L Gerstmann-Sträussler-Scheinker Italian family"
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Zou WQ, Gambetti P, Xiao X, Yuan J, Langeveld J, Pirisinu L (July 2013).
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Universally fatal, life expectancy is typically 5-6 years from diagnosis
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P102L Mutation
Carrier with Rapidly Progressing Parkinsonism-dystonia"
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ITALIAN ASSOCIATION AGAINST GERSTMANN STRAUSSLER SCHEINKER'S DISEASE
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235:, which are a class of pathogenic proteins that are resistant to
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121:) is an extremely rare, always fatal (due to it being caused by
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change is usually required for the development of the disease.
204:(spasmodic muscle contraction) is less frequently seen than in
948:"Prions in variably protease-sensitive prionopathy: an update"
368:
Liberski PP (2012). "Gerstmann-Sträussler-Scheinker
Disease".
626:. The Merck Manuals: Online Medical Library. Archived from
272:) of most affected individuals. Therefore, it appears this
141:
protein. GSS was first reported by the Austrian physicians
344:"Gerstmann-Straussler-Scheinker Disease Information Page"
163:
Certain symptoms are common to GSS, such as progressive
550:
National Institute of Neurological Disorders and Stroke
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National Institute of Neurological Disorders and Stroke
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Zeitschrift für die gesamte Neurologie und Psychiatrie
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350:. U.S. Department of Health & Human Services
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467:The Canadian Journal of Neurological Sciences
216:composed of abnormally folded prion protein.
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693:Poggiolini I, Saverioni D, Parchi P (2013).
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227:GSS is part of a group of diseases called
196:signs may occur and the disease may mimic
133:(TSE) due to the causative role played by
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1399:Transmissible spongiform encephalopathies
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229:transmissible spongiform encephalopathies
175:; they worsen as the disease progresses.
131:transmissible spongiform encephalopathies
999:"Creationism and evolutionism in prions"
624:"Gerstmann–Sträussler–Scheinker Disease"
546:"Gerstmann-Straussler-Scheinker Disease"
191:(unsteadiness) and then the progressive
1288:Variably protease-sensitive prionopathy
1257:Gerstmann–Sträussler–Scheinker syndrome
1225:transmissible spongiform encephalopathy
1085:Gerstmann–Sträussler–Scheinker syndrome
330:
115:Gerstmann–Sträussler–Scheinker syndrome
32:Gerstmann–Sträussler–Scheinker syndrome
1394:Syndromes affecting the nervous system
183:Symptoms start with slowly developing
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789:"Clinicopathological Correlates in a
699:International Journal of Cell Biology
187:(difficulty speaking) and cerebellar
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797:Movement Disorders Clinical Practice
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156:Familial cases are associated with
862:10.1111/j.1750-3639.1996.tb00796.x
758:10.1212/01.wnl.0000218211.85675.18
14:
1358:Transmissible mink encephalopathy
1003:The American Journal of Pathology
246:, which causes a substitution of
1363:Feline spongiform encephalopathy
1338:Bovine spongiform encephalopathy
578:Journal of Clinical Neuroscience
76:difficulty speaking, developing
37:
1343:Camel spongiform encephalopathy
231:. These diseases are caused by
16:Human neurodegenerative disease
1368:Exotic ungulate encephalopathy
1048:Clinics in Laboratory Medicine
284:GSS can be identified through
1:
1060:10.1016/s0272-2712(02)00064-1
208:. Many patients also exhibit
1015:10.1016/j.ajpath.2012.12.016
378:10.1007/978-1-4614-0653-2_10
845:"Prion protein amyloidosis"
258:102, has been found in the
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370:Neurodegenerative Diseases
18:
997:Gambetti P (March 2013).
480:10.1017/S0317167100002651
206:Creutzfeldt–Jakob disease
200:in the beginning stages.
45:
36:
965:10.3390/pathogens2030457
19:Not to be confused with
1353:Chronic wasting disease
1283:Sporadic fatal insomnia
1262:Fatal familial insomnia
198:spinocerebellar ataxias
160:-dominant inheritance.
590:10.1054/jocn.2001.0919
516:10.1212/wnl.39.11.1446
630:on February 22, 2011
125:) neurodegenerative
909:1989Natur.338..342H
712:10.1155/2013/910314
652:Annals of Neurology
1090:2013-05-11 at the
1054:(1): 65–85, viii.
809:10.1002/mdc3.12307
440:10.1007/bf02865827
179:Symptoms and signs
21:Gerstmann syndrome
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628:the original
622:Gambetti P.
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137:, the human
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555:27 February
434:: 736–762.
86:vision loss
82:memory loss
1383:Categories
1241:inherited/
1173:DiseasesDB
705:: 910314.
354:2021-04-18
242:The P102L
185:dysarthria
1297:acquired/
1271:sporadic:
1234:in humans
952:Pathogens
746:Neurology
680:199504473
504:Neurology
410:synd/2269
301:Prognosis
292:Treatment
280:Diagnosis
237:proteases
210:nystagmus
202:Myoclonus
158:autosomal
153:in 1936.
104:Prognosis
57:Neurology
52:Specialty
1088:Archived
1068:12733425
1033:23380581
984:25437202
879:10240829
827:27617269
774:26013402
766:16769939
731:24454379
672:31397917
634:April 6,
606:31976428
598:11535002
532:23716392
489:12945948
448:86904496
396:22411239
316:Research
244:mutation
193:dementia
173:dementia
78:dementia
72:Symptoms
1348:Scrapie
1167:D016098
1024:3590995
975:4235694
933:4319741
925:2564168
905:Bibcode
871:8737929
818:5015693
722:3884631
524:2812321
274:genetic
252:leucine
248:proline
127:disease
1156:137440
1145:046.71
1066:
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877:
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394:
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262:gene (
233:prions
223:Causes
171:, and
165:ataxia
123:prions
97:Prions
93:Causes
59:
1178:30729
1130:A81.9
929:S2CID
875:S2CID
770:S2CID
676:S2CID
602:S2CID
528:S2CID
444:S2CID
325:Notes
268:, on
256:codon
250:to a
139:prion
1316:Kuru
1311:vCJD
1306:iCJD
1278:sCJD
1252:fCJD
1243:PRNP
1223:and
1162:MeSH
1151:OMIM
1140:9-CM
1064:PMID
1029:PMID
980:PMID
921:PMID
867:PMID
823:PMID
791:PRNP
762:PMID
727:PMID
703:2013
668:PMID
636:2011
594:PMID
557:2023
520:PMID
485:PMID
392:PMID
382:ISBN
265:PRNP
149:and
135:PRNP
1136:ICD
1121:ICD
1056:doi
1019:PMC
1011:doi
1007:182
970:PMC
960:doi
913:doi
901:338
857:doi
813:PMC
805:doi
754:doi
717:PMC
707:doi
660:doi
586:doi
512:doi
475:doi
436:doi
432:154
413:at
374:doi
254:in
119:GSS
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