Neuro-Ophthalmology & Neuro-Otology
Leber hereditary optic neuropathy
Jun. 24, 2024
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Toll Free (U.S. + Canada): 800-452-2400
US Number: +1-619-640-4660
Support: service@medlink.com
Editor: editor@medlink.com
ISSN: 2831-9125
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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.)