Friedreich's Ataxia Insights

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In a study by Ahn et al. (2025), researchers investigated the prevalence of a rare neurodegenerative disorder, Spinocerebellar ataxia 36 (SCA36), in South Korea. They used advanced molecular techniques to analyze patients who remained undiagnosed after being tested for more common forms of genetic ataxias. Among 78 patients from 67 families, SCA36 was found in 11.9% of the cases. Additionally, in a broader group of unselected ataxia patients, SCA36 was identified in 1.0% of individuals.

The study also revealed that the clinical characteristics of Korean SCA36 patients were consistent with global reports, including a higher incidence of hyperreflexia, which is an exaggerated reflex response. The genetic analysis showed a consistent haplotype among the SCA36 patients. These findings highlight the significance of SCA36 in South Korea and suggest that long-read sequencing (LRS) could be a valuable diagnostic tool for identifying this condition. Ahn et al. suggest that incorporating LRS into the diagnostic process could improve the identification of SCA36, especially in populations where it is more prevalent.