Patients and Methods:
During 4 years period of study 135 patients of early-onset ataxia were
registered that 25 patients with treatable ataxia were evaluated during
the last 2-4 years, from 2017 to 2021. After detailed clinical and
laboratory evaluation and exclusion of acquired causes of ataxia, they
were subjected to whole-exome sequencing (WES) followed by confirmation
of sequence variants using Sanger sequencing. Then, patients who had
treatable ataxia(2) with genetic confirmation entered our study. We
administered the drug of choice depending on the type of ataxia and
followed patients regularly. Then we recorded related data including
age, sex, onset of ataxia, additional features, age of definite
diagnosis, genetic testing results, type of treatment, and outcome.