This is an image preview.
Start a Free Account
to view the full image.

Nearly 3,000 illustrations, including video clips of neurologic disorders.
Every article is reviewed by our esteemed Editorial Board for accuracy and currency.
Full spectrum of neurology in 1,200 comprehensive articles.
Listen to MedLink on the go with Audio versions of each article.

Negative correlation of age at onset with triplet repeat count in cases with FGF14 GAA repeat expansion

Download

Negative correlation between the size of the FGF14 repeat expansion and age at disease onset in 17 patients (Pearson’s r, −0.67; R2=0.45; p=0.0031). The grey area displays the 95% confidence interval. Simple linear regression fitting (slope, -0.079 and intercept, 89.84) suggests that age at onset decreases by about 3.96 years (95% CI: 1.56 to 6.37 years) for every increment of 50 GAA repeats above the pathogenic threshold of 250 repeat units. (Source: Pellerin D, Wilke C, Traschütz A, et al. Intronic FGF14 GAA repeat expansions are a common cause of ataxia syndromes with neuropathy and bilateral vestibulopathy. J Neurol Neurosurg Psychiatry 2024;95[2]:175-179. Creative Commons Attribution 4.0 International [CC BY 4.0] license, creativecommons.org/licenses/by/4.0.)