Abstract
Background
The genetics of hereditary ataxia (HA) are complex and multigenic. The diversity of genes that cause ataxia varies considerably between populations. We aimed to investigate the clinical, neuroimaging, and genetic findings of HA in children from a tertiary center in Turkey.
Methods
The clinical and neuroimaging evaluations of patients, laboratory investigations, and molecular genetic evaluations of those with ataxia were performed at the pediatrics, pediatric neurology, and genetics outpatient clinics between October 2020 and October 2021. With repeated expansions in the ATXN 1, 2, 3, 7, and 8 genes for spinocerebellar ataxia (SCA) and FXN genes for Friedreich’s ataxia (FA), whole-exome sequencing (WES) was used to analyze every patient.
Results
25 patients from 24 families had ataxia and an unsteady gait as their main symptoms. The patients had a mean age of 8.5 ± 3.78 years, and the symptoms had begun at a mean age of 2 ± 0.62 years; five of these were males and three were females. A genetic cause of ataxia was found in 8/25 patients (32%). Seven of the eight gene mutations detected in the patients were novel mutations. Spinocerebellar ataxia was found in 16% of cases (n = 4), L-2-Hydroxyglutaric aciduria was found in 12% of cases (n = 3), and ataxia-telangiectasia was found in 4% of cases (n = 1).
Conclusion
Our research adds to the body of knowledge by describing the clinical and genetic traits of HA patients in our area and by finding unusual gene changes linked to ataxia.
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All authors contributed to the study’s conception and design. YB, AK and SY performed material preparation, data collection, and analysis. YB wrote the first draft of the manuscript and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript
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Bildirici, Y., Kocaaga, A. & Yimenicioglu, S. Clinical, neuroimaging and genetic findings in children with hereditary ataxia: single center study. Mol Biol Rep 50, 1367–1373 (2023). https://doi.org/10.1007/s11033-022-08148-9
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DOI: https://doi.org/10.1007/s11033-022-08148-9