Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease

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...

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Bibliographic Details
Published in:Prion 2018-03, Vol.12 (2), p.147-149
Main Authors: Saito, Natsumi, Ishihara, Tomohiko, Kasuga, Kensaku, Nishida, Mana, Ishiguro, Takanobu, Nozaki, Hiroaki, Shimohata, Takayoshi, Onodera, Osamu, Nishizawa, Masatoyo
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Language:English
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Case Report
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Summary: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.
ISSN:1933-6896
1933-690X
DOI:10.1080/19336896.2018.1436926