Article
An R83W mutation in Rab3A causes autosomal-dominant cerebellar ataxia.
Human molecular genetics - 10 Feb 2026
Miyamoto Ryosuke, Sakane Ayuko, Morino Hiroyuki, Kume Kodai, Matsubara Tomoyasu, Fukumoto Tatsuya, Osaki Yusuke, Oki Ryosuke, Hanada Kenta, Tachibana Konoka, Nakataki Masahito, Nishida Yoshihiko, Takahashi Yuji, Mizuguchi Kenji, Murayama Shigeo, Saito Yuko, Kawakami Hideshi, Takai Yoshimi, Sasaki Takuya, Izumi Yuishin
Abstract excerpt
Spinocerebellar ataxias (SCAs) are a group of progressive neurodegenerative disorders caused by pathogenic variants in more than 40 genes with diverse cellular functions. In this study, we identified the c.247C > T p.(Arg83Trp) variant in RAB3A, encoding a small GTPase involved in membrane-associated regulated exocytosis, in two families with cerebellar ataxia. Affected individuals presented with adult-onset,...
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