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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Detalhes bibliográficos
Publicado no:Intern Med
Main Authors: Sawada, Jun, Katayama, Takayuki, Tokashiki, Takashi, Kikuchi, Shiori, Kano, Kohei, Takahashi, Kae, Saito, Tsukasa, Adachi, Yoshiki, Okamoto, Yuji, Yoshimura, Akiko, Takashima, Hiroshi, Hasebe, Naoyuki
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society of Internal Medicine 2019
Assuntos:
Case Report
Acesso em linha: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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