Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.

ABSTRACT:

Background

GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset ataxia caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies revealed cerebellar atrophy in 74-97% of patients. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide supportive diagnostic features and earlier disease recognition.

Methods

We performed a retrospective review of the brain MRIs of 35 patients (median age at MRI 63 years; range 28-88 years) from Quebec (n=27), Nancy (n=3), Perth (n=3) and Bengaluru (n=2) to assess the presence of atrophy in vermis, cerebellar hemispheres, brainstem, cerebral hemispheres, and corpus callosum, as well as white matter involvement. Following the identification of the superior cere

SUBMITTER: Chen S 

PROVIDER: S-EPMC10889027 | biostudies-literature | 2024 May

REPOSITORIES: biostudies-literature