Journal
PRION
Volume 12, Issue 2, Pages 147-149Publisher
TAYLOR & FRANCIS INC
DOI: 10.1080/19336896.2018.1436926
Keywords
spinocerebellar ataxia type 31; sporadic Creutzfeldt-Jakob disease; cerebellar ataxia; real-time quaking-induced conversion; RAN translation
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We report a Japanese patient with spinocerebellar ataxia type 31 (SCA31) and sporadic Creutzfeldt-Jakob disease (sCJD). A 52-year-old man developed progressive cognitive impairment after the appearance of cerebellar symptoms. Brain MR diffusion-weighted imaging (DWI) demonstrated a slowly expanding hyperintense lesion in the cerebral cortex. The patient was finally diagnosed as having both SCA31 and sCJD by identification of genetic mutations and by real-time quaking-induced conversion (RT-QUIC) analysis of the cerebrospinal fluid (CSF), respectively. Here, we report the clinical details of this rare combined case, with particular reference to the association between prion protein and the early onset of SCA31.
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