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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Detalles Bibliográficos
Publicado en:Intern Med
Autores principales: 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
Lenguaje:Inglês
Publicado: The Japanese Society of Internal Medicine 2019
Materias:
Case Report
Acceso en línea: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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