Article

Neuroradiological findings in GAA-<i>FGF14</i>ataxia (SCA27B): more than cerebellar atrophy

2024-02-18

Abstract excerpt

<h4>Background</h4> 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. <h4>Methods</h4> We performed a retrospec...

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Literature Corpus work: fbdff558-efcc-546f-9735-4acae1bbb84b
DOI: 10.1101/2024.02.16.24302945

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