TY - JOUR AU - Velasco-Parra, Harvy Mauricio AU - Maradei-Anaya, Silvia Juliana AU - Acosta-Guio, Johanna Carolina AU - Arteaga-Diaz, Clara Eugenia AU - Prieto-Rivera, Juan Carlos PY - 2018/06/29 Y2 - 2024/03/28 TI - Clinical and mutational spectrum of Colombian patients with Pelizaeus Merzbacher Disease JF - Colombia Medica JA - Colomb Med VL - 49 IS - 2 SE - Case Report DO - 10.25100/cm.v49i2.2522 UR - https://colombiamedica.univalle.edu.co/index.php/comedica/article/view/2522 SP - 182-187 AB - Pelizaeus Merzbacher Disease (PMD) is an X-linked developmental defect of myelination that causes a childhood chronic spastic encephalopathy. Its genetic aetiology can be either a duplication (or other gene dosage alterations) or a punctual mutation at the PLP1 locus. Clinically, it presents with developmental delay, nistagmus and spasticity, supported by neuroimaging in which the defect of myelination is evident. We present a series of 7 Colombian patients diagnosed with PMD, describing their genotypic and phenotypic characteristics and heterogeneity. We found PLP1 mutations in 71,5% of patients taken to molecular diagnosis and PLP1 duplications in the other 28,5%. We suggest that for Colombian population it might be better to start the confirmatory algorithm with full sequencing of the affected gene. ER -