The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population

Mahdieh N, Heidari M, Rezaei Z, et al. The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population. Human Genomics. 2024 Apr;18(1):35. DOI: 10.1186/s40246-024-00598-5. PMID: 38570878; PMCID: PMC10988936.

 Friedreich ataxia (FA), ataxia telangiectasia (AT), ataxia with oculomotor apraxia (AOA), and autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) are among the most common forms of ARCA. These conditions typically present with a complicated phenotype. For instance, FA, the most prevalent recessive ataxia affecting 1 in 50,000 individuals in white populations, is caused by homozygous expansions of an intronic GAA trinucleotide repeat in the FXN gene

The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population