ID: 7

Disease Name: Gerstmann-Straussler-Scheinker Disease

Description: An autosomal dominant familial prion disease with a wide spectrum of clinical presentations including ataxia, spastic paraparesis, extrapyramidal signs, and dementia. Clinical onset is in the third to sixth decade of life and the mean duration of illness prior to death is five years. Several kindreds with variable clinical and pathologic features have been described. Pathologic features include cerebral prion protein amyloidosis, and spongiform or neurofibrillary degeneration.

Disease Type: Amyloidosis

ICD-10 Classification: Certain Infectious and Parasitic Diseases

Tissue: Central Nervous System (CNS)

Cross References
http://apps.who.int/classifications/icd10/browse/2016/en#/A81

https://meshb.nlm.nih.gov/record/ui?ui=D016098

https://www.omim.org/entry/137440

https://www.ncbi.nlm.nih.gov/pubmed/7445983

https://www.ncbi.nlm.nih.gov/pubmed/1672107

https://www.ncbi.nlm.nih.gov/pubmed/17278997

Alternative Names:
Encephalopathy, Subacute Spongiform, Gerstmann-Straussler Type
Gerstmann-Straussler Disease
Gerstmann-Straussler Inherited Spongiform Encephalopathy
Gerstmann-Straussler Syndrome
Gerstmann-Straussler-Scheinker Syndrome
Inherited Spongiform Encephalopathy, Gerstmann-Straussler 
Subacute spongiform encephalopathy, Gerstmann-Straussler type

Precursor Proteins:
P04156 | Major prion protein


Co-deposited Proteins:
P05067 | Amyloid-beta A4 protein
P62258 | 14-3-3 protein epsilon


Link to Amyloidosis: 
	No information available
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