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Article

C9orf72 repeat expansions in Wakayama: One potential cause of amyotrophic lateral sclerosis in the Kii Peninsula, Japan.

Journal of the neurological sciences - 15 Nov 2024

Emori Seiji, Kume Kodai, Nakayama Yoshiaki, Ito Hidefumi, Kawakami Hideshi

Abstract excerpt

A cluster of cases of amyotrophic lateral sclerosis (ALS) exists in the southern part of the Kii Peninsula in Japan. Although both genetic and environmental factors are thought to be causative, the critical cause of this cluster has not been identified. C9orf72 is the most common genetic factor in both familial and sporadic C9orf72-related ALS in people of European ancestry, but it is rare among Japanese...

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PMID: 39260140
DOI: 10.1016/j.jns.2024.123209

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