Objective: To investigate the pathogenicity of the variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pathogenic mutations in the gene .
Methods: Neurologic assessment and brain MRI were performed to provide detailed description of the phenotype. Whole-exome sequencing and dynamic mutation analysis were performed to identify the genotype.
Results: The proband, presenting with myoclonic epilepsy, cognitive decline, and ataxia, harbored both the p.L517W variant and expanded CAG repeats in gene . Further analysis of the other living family members in this pedigree revealed that the CAG repeat number was expanded in all the patients and within normal range in all the unaffected family members. However, the p.L517W variant was absent in 2 affected family members, but present in 3 healthy individuals.
Conclusions: The nonsegregation of the variant with phenotype does not support this variant as the disease-causing gene in this pedigree, questioning the pathogenicity of in SCA35.
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| http://dx.doi.org/10.1212/NXG.0000000000000424 | DOI Listing |
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