Clinical variability associated with intronic FGF14 GAA repeat expansion in Japan.

Masahiro Ando Yujiro Higuchi Jun-Hui Yuan Akiko Yoshimura Fumikazu KojimaYuki YamanishiYasuhiro AsoKotaro IzumiMinako ImadaYoshimitsu MakiHiroto NakagawaTakahiro Hobara Yutaka Noguchi Jun Takei Yu Hiramatsu Satoshi Nozuma Yusuke Sakiyama Akihiro Hashiguchi Eiji Matsuura Yuji Okamoto Hiroshi Takashima

Published in: Annals of clinical and translational neurology (2023)

This study highlights the importance of FGF14 GAA repeat analysis in patients with late-onset cerebellar ataxia, particularly when they exhibit episodic symptoms, or their brain MRI shows no apparent cerebellar atrophy. Our findings contribute to a better understanding of the clinical variability of GAA-FGF14-related diseases.

Keyphrases

late onset
early onset
magnetic resonance imaging
contrast enhanced
magnetic resonance
sleep quality
brain injury
data analysis