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Case Report: A patient with spinocerebellar ataxia type 31 and sporadic Creutzfeldt-Jakob disease |
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| Authors: | Natsumi Saito Tomohiko Ishihara Kensaku Kasuga Mana Nishida Takanobu Ishiguro Hiroaki Nozaki |
| Affiliation: | 1. Department of Neurology, Brain Research Institute, Niigata University, Niigata, Japan;2. Department of Molecular Neuroscience, Brain Research Institute, Niigata University, Niigata, Japan;3. Department of Molecular Genetics, Brain Research Institute, Niigata University, Niigata, Japan;4. Graduate School of Health Sciences, Niigata University, Niigata, Japan |
| Abstract: | 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. |
| Keywords: | spinocerebellar ataxia type 31 sporadic Creutzfeldt-Jakob disease cerebellar ataxia real-time quaking-induced conversion RAN translation |