Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy

Conclusions
GAA-FGF14-related disease is a common cause of cerebellar ataxia with polyneuropathy and/or BVP, and should be included in the differential diagnosis of RFC1 CANVAS and disease spectrum.

Source: Journal of Neurology, Neurosurgery and Psychiatry - January 11, 2024 Category: Neurosurgery Authors: Pellerin, D., Wilke, C., Traschütz, A., Nagy, S., Curro, R., Dicaire, M.-J., Garcia-Moreno, H., Anheim, M., Wirth, T., Faber, J., Timmann, D., Depienne, C., Rujescu, D., Gazulla, J., Reilly, M. M., Giunti, P., Brais, B., Houlden, H., Schöl Tags: Open access Neurogenetics Source Type: research