G. Olmedo-Saura

A Large Spanish Cohort Study Defines SCA27B Distinct Clinical Phenotype and its Longitudinal Progression

Background Heterozygous GAA-TTC repeat expansions in the FGF14 gene cause spinocerebellar ataxia 27B (SCA27B), a late-onset cerebellar ataxia (LOCA) increasingly recognized in populations of European ancestry. Objective To characterize the clinical and genetic features of SCA27B and compare its phenotype and progressio...