| Abstract [eng] |
Hereditary neuropathies are a broad clinically and genetically heterogeneous group of neurodegenerative disorders. Our aim was to identify the most common and novel genetic defects and to evaluate the genetic and phenotype heterogeneity in a group of patients with hereditary neuropathies. The fact that hereditary neuropathies are caused by a wide variety of variants in a large number of different genes, restricts the number of patients who suffer from a specific mutation. As a result, we retrospectively analysed the phenotypes of the patients with CMT1A. We further prospectively investigated the most common hereditary neuropathies genes GJB1, MFN2, MPZ, and we performed NGS for the selected patients. Furthermore, genotype-phenotype relationships have been described in patients with previously reported and novel pathogenic variants. Our study gives important insights to apply targeted NGS for patients who are negative for the most common genetic causes. |
