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Condition report · Neurological
A group of rare inherited brain diseases caused by changes in the PRNP gene, including genetic Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. They usually begin in mid to late adulthood and progress rapidly; there is currently no disease-modifying treatment.
A condition report looks for rare variants known to cause the conditions it covers.
Autosomal dominant
A rapidly progressive dementia with movement problems caused by PRNP variants such as E200K.
Genes analysed
Also known as
CJD; Creutzfeldt-Jakob disease; Creutzfeldt-Jakob disease, variant, resistance to; hereditary Creutzfeldt Jacob disease; inherited CJD
Autosomal dominant
A slowly progressive prion disease caused by PRNP variants, with ataxia followed by dementia.
Genes analysed
Also known as
amyloidosis cerebral with spongiform encephalopathy; cerebellar ataxia, progressive dementia, and amyloid deposits in the central nervous system; encephalopathy subacute spongiform Gerstmann-Straussler type; Gerstmann-Straussler disease; Gerstmann-Straussler-Scheinker disease; GSD; prion dementia
Autosomal dominant
A prion disease caused by the PRNP D178N variant together with methionine at codon 129, causing progressive insomnia, autonomic problems and cognitive decline.
Also known as
FFI
Autosomal dominant
A prion disease caused by PRNP octapeptide-repeat insertions, with chorea, psychiatric symptoms and dementia resembling Huntington disease.
Genes analysed
Also known as
early-onset prion disease with prominent psychiatric features; HDL1; HLN1; Huntington disease-like type 1; Huntington-like neurodegenerative disorder 1; neurodegenerative disease with chorea caused by mutation in PRNP; PRNP neurodegenerative disease with chorea
Autosomal dominant
A PRNP-related prion disease presenting as a slowly progressive dementia resembling Alzheimer disease.
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