NEJM Study Reveals Hidden Genetic Anomaly (GAA Repeat Expansion in Intron) Behind Common Late-Onset Cerebellar Ataxia

Researchers at the University of Miami Miller School of Medicine, McGill University, and other institutions have found that a well-concealed genetic variation in the gene FGF14 (fibroblast growth factor 14), called a DNA tandem repeat expansion, causes a common form of late-onset cerebellar ataxia, a brain disorder that interferes with coordinated movement. Tandem repeat expansions have only been found in 50 conditions, including Friedreich’s ataxia and Huntington’s disease, but researchers believe they could account for many other conditions. The paper, “Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia,” was published online on December 14, 2022 in the New England Journal of Medicine. These findings could lead to new diagnostics and therapeutics for patients suffering from late-onset ataxia. 

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