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1. Bilateral vestibulopathy in RFC1-positive CANVAS is distinctly different compared to FGF14-linked spinocerebellar ataxia 27B.

Author

Borsche, Max, Thomsen, Mirja, Szmulewicz, David J., Lübbers, Bente, Hinrichs, Frauke, Lockhart, Paul J., Lohmann, Katja, Helmchen, Christoph, and Brüggemann, Norbert

Subjects
*SPINOCEREBELLAR ataxia, *CEREBELLAR ataxia, *NERVE conduction studies, *DIGITAL video recording, *FIBROBLAST growth factors, *CHRONIC cough
Abstract

This document discusses a study that explores two new repeat expansion disorders for late-onset cerebellar ataxia (CA) that are often accompanied by vestibulopathy and neuropathy. The study compares the severity of bilateral vestibulopathy (BV) in patients with RFC1 repeat expansions and FGF14 repeat expansions. The results show that BV is more severe in RFC1-expansion-positive patients compared to FGF14-expansion-positive patients. The study suggests that the severity of BV may help distinguish RFC1-positive individuals from other ataxic individuals, but further research is needed to investigate these findings due to limitations in the study. [Extracted from the article]

Published
2024
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