Gerstmann-Straussler-Scheinker disease
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Epidemiology
rare
Pathology
- chronic spinocerebellar degeneration
Genetics
- mutation in the gene encoding prion protein (PRNP)
Clinical manifestations
- signs & symptoms of progressive cerebellar dysfunction develop in mid-life
- unsteadiness
- clumsiness,
- incoordination
- gait difficulty
- as the illness progresses, the cerebellar symptoms become increasingly severe
- parkinsonism, pyramidal & extrapyramidal signs, deafness, blindness & gaze palsies may also occur.
- dementia & myoclonus are either absent or minor features*
* in distinction from Creutzfeldt-Jakob [CJ] disease
Management
- no cure; no treatment
- prognosis:
- slowly progressive generally lasting 2-10 years
- progression to severe disability & finally death, often after coma or aspiration pneumonia due to inability to swallow
More general terms
- transmissible spongiform encephalopathy (prion disease)
- genetic disease of the central nervous system
Additional terms
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
Patient information
Gerstmann-Straussler-Scheinker disease patient information