• Internal medicine · Jan 2020

    Case Reports

    The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins.

    • Jun Sawada, Takayuki Katayama, Takashi Tokashiki, Shiori Kikuchi, Kohei Kano, Kae Takahashi, Tsukasa Saito, Yoshiki Adachi, Yuji Okamoto, Akiko Yoshimura, Hiroshi Takashima, and Naoyuki Hasebe.
    • Division of Neurology, Department of Internal Medicine, Asahikawa Medical University, Japan.
    • Intern. Med. 2020 Jan 15; 59 (2): 277-283.

    AbstractSpinocerebellar ataxia type 8 (SCA8) is a rare hereditary cerebellar ataxia showing mainly pure cerebellar ataxia. We herein report cases of SCA8 in Japanese monozygotic twins that presented with nystagmus, dysarthria, and limb and truncal ataxia. Their ATXN8OS CTA/CTG repeats were 25/97. They showed similar manifestations, clinical courses, and cerebellar atrophy on magnetic resonance imaging. Some of their pedigrees had nystagmus but not ataxia. These are the first monozygotic twins with SCA8 to be reported anywhere in the world. Although not all subjects with the ATXN8OS CTG expansion develop cerebellar ataxia, these cases suggest the pathogenesis of ATXN8OS repeat expansions in hereditary cerebellar ataxia.

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