Despite both molecular and clinical similarities between FRDA and SCA27B, the length of the GAA repeats in the FGF14 gene, including potentially pathogenic alleles, did not influence the clinical presentation of FRDA.
Tuesday, December 10, 2024
Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN
Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M. Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN. Neurol Genet. 2024 Nov 20;10(6):e200210. doi: 10.1212/NXG.0000000000200210. PMID: 39574782; PMCID: PMC11581763.
