Discover the groundbreaking insights into the genetic underpinnings of early-onset hereditary ataxia in Iran, shedding light on the diversity and complexity of this condition through the lens of a national registry.
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The genetic basis of early-onset hereditary ataxia in Iran: results of a national registry of a heterogeneous population.
Mahdieh et al., Hum Genomics 2024
<!– DOI: 10.1186/s40246-024-00598-5 //–>
https://doi.org/10.1186/s40246-024-00598-5
This study, conducted at the Children’s Medical Center (CMC) in Iran from 2019 to 2022, aimed to explore the genetics of early-onset progressive cerebellar ataxia. Focusing on patients with an autosomal recessive inheritance pattern, the research involved clinical assessments, paraclinical tests, and genetic analyses, including single-gene testing, Whole Exome Sequencing (WES), and Whole Genome Sequencing (WGS). Out of 162 patients, pathogenic variants in 42 genes were identified in 97 families, yielding a genetic diagnostic rate of 59.9%. Notably, variants in PLA2G6, ATM, SACS, and SCA genes were predominant, accounting for over 59% of the cases. This study highlights the diverse genetic etiology of hereditary ataxia in Iran, underscoring the importance of developing national guidelines for diagnosis and management, as well as targeted molecular therapeutics to improve patient outcomes. The findings emphasize the need for tailored healthcare approaches in a genetically diverse population.