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The First Case of Spinocerebellar Ataxia Type 8 in Monozygotic Twins

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 showe...

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Publicat a:Intern Med
Autors principals: Sawada, Jun, Katayama, Takayuki, Tokashiki, Takashi, Kikuchi, Shiori, Kano, Kohei, Takahashi, Kae, Saito, Tsukasa, Adachi, Yoshiki, Okamoto, Yuji, Yoshimura, Akiko, Takashima, Hiroshi, Hasebe, Naoyuki
Format: Artigo
Idioma:Inglês
Publicat: The Japanese Society of Internal Medicine 2019
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7008061/
https://ncbi.nlm.nih.gov/pubmed/31554751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2169/internalmedicine.2905-19
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