Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins
Jun SawadaTakayuki KatayamaTakashi TokashikiShiori KikuchiKohei KanoKae TakahashiTsukasa SaitoYoshiki AdachiYuji OkamotoAkiko YoshimuraHiroshi TakashimaNaoyuki Hasebe
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JOURNALS OPEN ACCESS

2020 Volume 59 Issue 2 Pages 277-283

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Abstract

Spinocerebellar 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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© 2020 by The Japanese Society of Internal Medicine
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