Article
Genotype and Age at Onset Drive Vermis Atrophy in CACNA1A- and GAA-FGF14-related Ataxias.
Cerebellum (London, England) - 4 Mar 2026
Indelicato Elisabetta, Nachbauer Wolfgang, Amprosi Matthias, Pellerin David, Mangesius Stephanie, Gizewski Elke R, Kiechl Stefan, Brais Bernhard, Boesch Sylvia, Krismer Florian
Abstract excerpt
CACNA1A- and GAA-FGF14-related channelopathies are among the most frequent genetic etiologies of cerebellar ataxia. They display overlapping features consisting of both chronic and episodic neurological symptoms and usually show only a mild cerebellar atrophy in imaging studies, with prevalent involvement of the vermis. To evaluate cerebellar volumetry as a biomarker for distinguishing between these disorders and...
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