Case series: Downbeat nystagmus in SCA27B

Spinocerebellar ataxia (SCA) 27B, first reported in late 2022, is caused by the abnormal expansion of GAA repeats in the first intron of the FGF14 gene, which encodes the fibroblast growth factor 14.

Source: Journal of the Neurological Sciences - October 25, 2023 Category: Neurology Authors: Shinichi Shirai, Keiichi Mizushima, Keishi Fujiwara, Eriko Koshimizu, Masaaki Matsushima, Satoko Miyatake, Ikuko Iwata, Hiroaki Yaguchi, Naomichi Matsumoto, Ichiro Yabe Tags: Clinical short communication Source Type: research