Neuroradiological findings in GAA-FGF14ataxia (SCA27B): more than cerebellar atrophy
Shihan Chen,
Catherine Ashton,
Rawan Sakalla
et al.
Abstract:Background and Objectives GAA-FGF14 ataxia (SCA27B) is a recently reported late-onset cerebellar ataxia (LOCA) caused by a GAA repeat expansion in intron 1 of the FGF14 gene. Initial studies reviewing MR images of GAA-FGF14 ataxia patients revealed variable degree of cerebellar atrophy in 74-97% of them. A more detailed brain imaging characterization of GAA-FGF14 ataxia is now needed to provide 1) supportive diagnostic features and earlier disease recognition and 2) further information about the pathophysiolog… Show more
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