332:
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.
74:
50:
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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.
307:
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
206:
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
331:
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
319:
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,
660:
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".
1146:
1131:
586:
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".
299:. 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.
755:
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)".
437:
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
906:
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".
17:
513:
Farlow MR, Yee RD, Dlouhy SR, Conneally PM, Azzarelli B, Ghetti B (November 1989). "Gerstmann-Sträussler-Scheinker disease. I. Extending the clinical spectrum".
223:(involuntary movement of the eyes), visual disturbances, and even blindness or deafness. The neuropathological findings of GSS include widespread deposition of
49:
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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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250:. 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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706:"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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383:. Advances in Experimental Medicine and Biology. Vol. 724. pp. 128–37.
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474:"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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246:, which are a class of pathogenic proteins that are resistant to
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change is usually required for the development of the disease.
215:(spasmodic muscle contraction) is less frequently seen than in
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959:"Prions in variably protease-sensitive prionopathy: an update"
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379:
Liberski PP (2012). "Gerstmann-Sträussler-Scheinker
Disease".
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637:. The Merck Manuals: Online Medical Library. Archived from
283:) of most affected individuals. Therefore, it appears this
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protein. GSS was first reported by the Austrian physicians
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355:"Gerstmann-Straussler-Scheinker Disease Information Page"
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Certain symptoms are common to GSS, such as progressive
561:
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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361:. U.S. Department of Health & Human Services
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478:The Canadian Journal of Neurological Sciences
227:composed of abnormally folded prion protein.
704:Poggiolini I, Saverioni D, Parchi P (2013).
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238:GSS is part of a group of diseases called
207:signs may occur and the disease may mimic
144:(TSE) due to the causative role played by
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240:transmissible spongiform encephalopathies
186:; they worsen as the disease progresses.
142:transmissible spongiform encephalopathies
1010:"Creationism and evolutionism in prions"
1007:
635:"Gerstmann–Sträussler–Scheinker Disease"
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557:"Gerstmann-Straussler-Scheinker Disease"
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202:(unsteadiness) and then the progressive
1309:Variably protease-sensitive prionopathy
1268:Gerstmann–Sträussler–Scheinker syndrome
1236:transmissible spongiform encephalopathy
1096:Gerstmann–Sträussler–Scheinker syndrome
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126:Gerstmann–Sträussler–Scheinker syndrome
43:Gerstmann–Sträussler–Scheinker syndrome
18:Gerstmann-Sträussler-Scheinker syndrome
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1415:Syndromes affecting the nervous system
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194:Symptoms start with slowly developing
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800:"Clinicopathological Correlates in a
710:International Journal of Cell Biology
198:(difficulty speaking) and cerebellar
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808:Movement Disorders Clinical Practice
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167:Familial cases are associated with
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873:10.1111/j.1750-3639.1996.tb00796.x
769:10.1212/01.wnl.0000218211.85675.18
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1379:Transmissible mink encephalopathy
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1014:The American Journal of Pathology
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257:, which causes a substitution of
1384:Feline spongiform encephalopathy
1359:Bovine spongiform encephalopathy
589:Journal of Clinical Neuroscience
87:difficulty speaking, developing
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1364:Camel spongiform encephalopathy
1001:
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242:. These diseases are caused by
27:Human neurodegenerative disease
1389:Exotic ungulate encephalopathy
1059:Clinics in Laboratory Medicine
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295:GSS can be identified through
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1:
1071:10.1016/s0272-2712(02)00064-1
219:. Many patients also exhibit
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389:10.1007/978-1-4614-0653-2_10
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1283:Huntington's disease-like 1
856:"Prion protein amyloidosis"
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269:102, has been found in the
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381:Neurodegenerative Diseases
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1008:Gambetti P (March 2013).
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217:Creutzfeldt–Jakob disease
211:in the beginning stages.
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1278:PrP systemic amyloidosis
976:10.3390/pathogens2030457
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30:Not to be confused with
1374:Chronic wasting disease
1304:Sporadic fatal insomnia
1273:Fatal familial insomnia
209:spinocerebellar ataxias
171:-dominant inheritance.
601:10.1054/jocn.2001.0919
527:10.1212/wnl.39.11.1446
641:on February 22, 2011
136:) neurodegenerative
920:1989Natur.338..342H
723:10.1155/2013/910314
663:Annals of Neurology
1101:2013-05-11 at the
1065:(1): 65–85, viii.
820:10.1002/mdc3.12307
451:10.1007/bf02865827
190:Symptoms and signs
32:Gerstmann syndrome
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633:Gambetti P.
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148:, the human
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566:27 February
445:: 736–762.
97:vision loss
93:memory loss
1404:Categories
1252:inherited/
1184:DiseasesDB
716:: 910314.
365:2021-04-18
253:The P102L
196:dysarthria
1318:acquired/
1292:sporadic:
1245:in humans
963:Pathogens
757:Neurology
691:199504473
515:Neurology
421:synd/2269
312:Prognosis
303:Treatment
291:Diagnosis
248:proteases
221:nystagmus
213:Myoclonus
169:autosomal
164:in 1936.
115:Prognosis
68:Neurology
63:Specialty
1099:Archived
1079:12733425
1044:23380581
995:25437202
890:10240829
838:27617269
785:26013402
777:16769939
742:24454379
683:31397917
645:April 6,
617:31976428
609:11535002
543:23716392
500:12945948
459:86904496
407:22411239
327:Research
255:mutation
204:dementia
184:dementia
89:dementia
83:Symptoms
1369:Scrapie
1178:D016098
1035:3590995
986:4235694
944:4319741
936:2564168
916:Bibcode
882:8737929
829:5015693
733:3884631
535:2812321
285:genetic
263:leucine
259:proline
138:disease
1167:137440
1156:046.71
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273:gene (
244:prions
234:Causes
182:, and
176:ataxia
134:prions
108:Prions
104:Causes
70:
1189:30729
1141:A81.9
940:S2CID
886:S2CID
781:S2CID
687:S2CID
613:S2CID
539:S2CID
455:S2CID
336:Notes
279:, on
267:codon
261:to a
150:prion
1337:Kuru
1332:vCJD
1327:iCJD
1299:sCJD
1263:fCJD
1254:PRNP
1234:and
1173:MeSH
1162:OMIM
1151:9-CM
1075:PMID
1040:PMID
991:PMID
932:PMID
878:PMID
834:PMID
802:PRNP
773:PMID
738:PMID
714:2013
679:PMID
647:2011
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568:2023
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496:PMID
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393:ISBN
276:PRNP
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1147:ICD
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1067:doi
1030:PMC
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1018:182
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971:doi
924:doi
912:338
868:doi
824:PMC
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765:doi
728:PMC
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