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Gerstmann-Straussler-Scheinker disease
Epidemiology: rare
Pathology:
- chronic spinocerebellar degeneration
Genetics:
-> mutation in the gene encoding prion protein (PRNP)
Clinical manifestations:
1) signs & symptoms of progressive cerebellar dysfunction develop in mid-life
a) unsteadiness
b) clumsiness,
c) incoordination
d) gait difficulty
2) as the illness progresses, the cerebellar symptoms become increasingly severe
a) ataxia
b) dysarthria
c) nystagmus
3) parkinsonism, pyramidal & extrapyramidal signs, deafness, blindness & gaze palsies may also occur.
4) dementia & myoclonus are either absent or minor features*
* in distinction from Creutzfeldt-Jakob [CJ] disease
Management:
1) no cure; no treatment
2) prognosis:
a) slowly progressive generally lasting 2-10 years
b) progression to severe disability & finally death, often after coma or aspiration pneumonia due to inability to swallow
Related
CD230 or major prion protein (PrP)
General
genetic disease of the central nervous system
transmissible spongiform encephalopathy (prion disease)
Database Correlations
OMIM correlations
MORBIDMAP 176640
References
- Harrison's Principles of Internal Medicine, 13th ed.
Isselbacher et al (eds), McGraw-Hill Inc. NY, 1994, pg 144, 2320
- National Institute of Neurological Disorders and Stroke (NINDS)
NINDS Gerstmann-Straussler-Scheinker Disease Information Page
https://www.ninds.nih.gov/Disorders/All-Disorders/Gerstmann-Straussler-Scheinker-Disease-Information-Page