Repeat Expansion Identified in Late-Onset Cerebellar Ataxia

The finding may lead to a specific diagnosis and in the future may help point us to personalized therapy.

Individuals presenting to neurology clinics late in life with wide-based gait and ataxia features frequently go undiagnosed. To find a genetic correlate to autosomal-dominant, late-onset cerebellar ataxia, researchers sequenced the genomes of six people drawn from three French-Canadian families.

The investigators identified a GAA repeat expansion deep in the first intron of FGF14 (encoding for fibroblast growth factor 14) that cosegregated with the clinical condition in these families. The repeat expansion was confirmed in an additional French-Canadian cohort (55 patients and 209 controls), a German cohort (228 patients and 199 controls), and in 20 Australian and 31 Indian patients. The investigators performed an assay on the gene and protei…

Reviewing Author

Michael S. Okun, MD

Disclosures

Consultant/Advisory BoardParkinson’s Foundation; Tourette Association of America

Speaker’s BureauMedscape/WebMD CME, Movement Disorders Society CME, American Academy of Neurology CME

RoyaltiesBooks4Patients; Demos; Cambridge; Taylor and Francis; Robert Rose; Public Affairs

Grant/Research SupportNational Institutes of Health; Parkinson’s Foundation; Tourette Association of America; University of Florida Foundation

Editorial BoardsTremor and Other Hyperkinetic Movements; JAMA Neurology

Leadership Positions in Professional SocietiesParkinson’s Foundation (Medical Advisor)