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    Novel De Novo KCND3 Mutation in a Japanese Patient with Intellectual Disability, Cerebellar Ataxia, Myoclonus, and Dystonia

    Spinocerebellar ataxia 19/22 (SCA19/22) is a rare type of autosomal dominant SCA that was previously described in 11 families. We report the case of a 30-year-old Japanese man presenting with intellectual disa...

    Masanori Kurihara, Hiroyuki Ishiura, Takuya Sasaki, Juuri Otsuka… in The Cerebellum (2018)