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  1. No Access

    Article

    Natural History of Spinocerebellar Ataxia Type 31: a 4-Year Prospective Study

    Spinocerebellar ataxia type 31 (SCA31) is known as a late-onset, relatively pure cerebellar form of ataxia, but a longitudinal prospective study on the natural history of SCA31 has not been done yet. In this p...

    Katsuya Nakamura, Kunihiro Yoshida, Akira Matsushima, Yusaku Shimizu… in The Cerebellum (2017)

  2. Article

    Open Access

    Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation

    Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias (ARHSPs) are clinically and genetically heterogeneous neurological disorders. Herein we describe Japanese siblings ...

    Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani… in Scientific Reports (2014)

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    Article

    Severity and Progression Rate of Cerebellar Ataxia in 16q-linked Autosomal Dominant Cerebellar Ataxia (16q-ADCA) in the Endemic Nagano Area of Japan

    16q22.1-linked autosomal dominant cerebellar ataxia (16q-ADCA) is a recently defined subtype of ADCA identified by a disease-specific C/T substitution in the 5′ untranslated region of the puratrophin-1 gene. I...

    Kunihiro Yoshida, Yusaku Shimizu, Hiroshi Morita, Tomomi Okano… in The Cerebellum (2009)

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    Chapter

    Prealbumin type cerebral amyloid angiopathy in familial amyloid polyneuropathy

    Immunocytochemical and electron-microscopic studies were performed on the central nervous system(CNS) in 10 cases with type I familial amyloid polyneuropathy. All cases showed CNS amyloid deposits, mainly on t...

    Masao Ushiyama, Shu-ichi Ikeda, Nobuo Yanagisawa in Amyloid and Amyloidosis 1990 (1991)