The Diagnostic Evaluation of Patients with Hereditary Ataxia in Children: Thirteen Patients and Comprehensive Approach

Objective: This study aims to determine genotype-phenotype characteristics that can help diagnose hereditary ataxia, a rare disease. Methods: The findings of clinical, laboratory, electrophysiological, and magnetic resonance imaging thirteen patients with ataxia in the last five years were reported this study. Phenotypic expressions genetically proved mutation also reviewed. Results: We report four identified Friedreich’s (FA) diagnosed ataxia-telangiectasia (AT), one patient spinocerebellar (SCA) type 42, Marinesco-Sjögren syndrome (MSS), two recently defined BRF 1 gene-related Cerebellofaciodental ataxia-oculomotor apraxia (AOA) 1. Clinical findings, neuroimaging, alpha-fetoprotein levels electrophysiological first-step tests diagnostic evaluation. diagnosis was 85% all genetic studies. Conclusion: A systematic investigation is recommended for definitive ataxia. Age at onset symptoms, prognosis, pattern clinical leads choosing ancillary tests, imaging, exome sequencing not an all-knowing test may fail find trinucleotide repeats, large deletion duplications. Specific studies, including single-gene sequencing, microarray methods, should be kept mind.