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Two Cases of Autosomal Recessive Spinocerebellar Ataxia-8 Showing Two Novel Variants of SYNE1 in Japanese Families.

Internal medicine (Tokyo, Japan) - 1 Jan 2026

Yunoki Taijun, Matsuoka Chika, Osakada Yosuke, Fukui Yusuke, Takemoto Mami, Morihara Ryuta, Yamashita Toru, Ishiura Hiroyuki

Abstract excerpt

Autosomal recessive spinocerebellar ataxia-8 (SCAR8) is a neurodegenerative disorder caused by the biallelic pathogenic variants of SYNE1. It is characterized by slowly progressive cerebellar ataxia and atrophy. We identified two SCAR8 families using exome analyses and two novel variants, c.2127delG (p.Met709Ilefs) and c.15943G>T (p.Gly5315*), in SYNE1 (NM_182961.4). Pathogenic variants of SYNE1 cause various...

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PMID: 40467513
DOI: 10.2169/internalmedicine.5602-25
PMCID: PMC12854956

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