Gerstmann-Sträussler-Scheinker syndrome
- Gerstmann-Sträussler-Scheinker syndrome
Infobox_Disease
Name = Gerstmann-Sträussler-Scheinker syndrome
Caption =
DiseasesDB = 30729
ICD10 = ICD10|A|81|9|a|80
ICD9 = ICD9|046.8
ICDO =
OMIM = 137440
MedlinePlus =
eMedicineSubj =
eMedicineTopic =
MeshID = D016098
Gerstmann-Sträussler-Scheinker syndrome (GSS) is a very rare, usually familial, fatal neurodegenerative disease that affects patients from 20 to 60 years in age. This extremely rare disease is classified as a transmissible spongiform encephalopathy (TSE). The exact incidence of GSS is unknown but is estimated to be between 1 to 10 per 100 million. Familial cases are associated with autosomal dominant inheritance.
Eponym
It is named for Josef Gerstmann, Ernst Sträussler, and Ilya Scheinker. [WhoNamedIt|synd|2269] [J. Gerstmann, E. Sträussler, I. Scheinker. Über eine eigenartige hereditär-familiäre Erkrankung des Zentralnervensystems. Zugleich ein Beitrag zur Frage des vorzeitigen lokalen Alterns. Zeitschrift für die gesamte Neurologie und Psychiatrie, 1936, 154: 736-762.]
Causes
It is one of the few diseases which are caused by prions; a class of pathogenic proteins highly resistant to proteases.
A change in codon 102 from proline to leucine has been found in the prion protein gene (PRNP) of most affected individuals. Therefore, it appears this genetic change is usually required for the development of the disease.
ymptoms
Symptoms start with slowly developing dysarthria (difficulty speaking) and cerebellar ataxia (unsteadiness) and then the progressive dementia becomes more evident.
Prognosis
There is no cure or treatment for GSS and patients rarely survive longer than five years.
References
External links
* [http://www.medterms.com/script/main/art.asp?articlekey=25941 Gerstmann-Sträussler-Scheinker syndrome] , MedicineNet.com
* [http://www.cjd.ed.ac.uk/ UK CJD Surveillance Unit] Monitors UK GSS cases and gives a comprehensive list of relevant links.
*
Wikimedia Foundation.
2010.
Look at other dictionaries:
Gerstmann-Straussler-Scheinker syndrome — Gerst·mann Sträuss·ler Schein·ker syndrome gerst mən s(h)trȯis lər shīŋ kər n a rare spongiform encephalopathy that is related to Creutzfeldt Jakob disease, is marked by ataxia, dementia, and by accumulation of amyloid plaques in the brain, and… … Medical dictionary
Gerstmann-Straussler-Scheinker syndrome — an autosomal dominant condition that is caused by a mutation in the prion protein gene and resembles Creutzfeldt Jakob disease (CJD). Patients present with cerebellar dysfunction (ataxia and dysarthria) and later develop dementia. They continue… … The new mediacal dictionary
Gerstmann-Straussler-Scheinker syndrome — A familial spongiform encephalopathy. Transgenic mice with a mutant form of the PrP gene from patients with this syndrome develop degenerative brain disease that is similar, but not identical, to that caused by scrapie … Dictionary of molecular biology
Gerstmann-Sträussler-Scheinker syndrome — … Википедия
Síndrome de Gerstmann-Sträussler-Scheinker — No confundir con Síndrome de Gerstmann Síndrome de Gerstmann Sträussler Scheinker Clasificación y recursos externos CIE 10 A81.9 CIE 9 046.8 … Wikipedia Español
Straüssler — See Gerstmann Sträussler Scheinker syndrome … Medical dictionary
Gerstmann-Syndrom — Als Gerstmann Syndrom wird ein Symptom Komplex bezeichnet, der erstmals von Josef Gerstmann im Jahre 1924 beschrieben wurde. Er besteht aus: Agraphie (Schwierigkeiten beim Schreiben, die nicht auf motorische Störungen oder Intelligenzminderungen… … Deutsch Wikipedia
syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… … Medical dictionary
Gerstmann — Josef, Austrian neurologist, 1887–1969. See G. syndrome, G. Sträussler Scheinker syndrome … Medical dictionary
Ernst Sträussler — (June 17, 1872 1959) was an Austrian neuropathologist who was a native of the Moravian city of Ungarisch Hradisch.In 1895 he earned his medical doctorate at the University of Vienna, and afterwards worked at the psychiatric clinic of Julius… … Wikipedia
