Spinocerebellar ataxia 27B (SCA27B), a frequent late-onset cerebellar ataxia
Author: Clement, G.; Puisieux, S.; Pellerin, D.; Brais, B.; Bonnet, C.; Renaud, M. Description: Genetic cerebellar ataxias are still a diagnostic challenge, and yet not all of them have been identified. Very recently, in early 2023, a new cause of late-onset cerebellar ataxia (LOCA) was identified, spinocerebellar ataxia 27B (SCA27B). This is an autosomal dominant ataxia due to a GAA expansion in intron 1 of the FGF14 gene. Thanks to the many studies carried out since its discovery, it is now possible to define the clinical phenotype, its particularities, and…
See more and a link to full text