Multi-Center National Study of Genotype-Phenotype Correlation and Clinical Characteristics in Children and Young Adults with Friedreich's Ataxia from Serbia.

ABSTRACT: Background/Objectives: Friedreich's ataxia (FA) is a rare neurodegenerative disorder caused by GAA repeat expansions in the FXN gene. While well-studied in larger populations, data from Southeastern Europe are limited. This study aimed to characterize the clinical and genetic features of FA in a Serbian cohort and explore genotype-phenotype correlations. Methods: A multi-center, retrospective analysis was conducted on 30 genetically confirmed FA patients. Clinical assessments included neurological, cardiological, and metabolic evaluations. GAA repeat sizes were determined in 26 patients, and correlations with clinical features were analyzed. Results: The mean age at disease onset was 9.0 ± 3.0 years, with ataxia as the initial symptom in 80% of patients. Hypertr

SUBMITTER: Kovacevic G 

PROVIDER: S-EPMC12650222 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature