Clinical and genetic analyses of a Swedish patient series diagnosed with ataxia.

ABSTRACT: Hereditary ataxia is a heterogeneous group of complex neurological disorders. Next-generation sequencing methods have become a great help in clinical diagnostics, but it may remain challenging to determine if a genetic variant is the cause of the patient's disease. We compiled a consecutive single-center series of 87 patients from 76 families with progressive ataxia of known or unknown etiology. We investigated them clinically and genetically using whole exome or whole genome sequencing. Test methods were selected depending on family history, clinical phenotype, and availability. Genetic results were interpreted based on the American College of Medical Genetics criteria. For high-suspicion variants of uncertain significance, renewed bioinformatical and clinical evaluation was performed to

SUBMITTER: Gorcenco S 

PROVIDER: S-EPMC10770240 | biostudies-literature | 2024 Jan

REPOSITORIES: biostudies-literature