A novel PLP1 mutation associated with optic nerve enlargement in two siblings with Pelizaeus–Merzbacher disease: A new MRI finding

Publication date: Available online 25 October 2016
Source:Brain and Development
Author(s): Efterpi Pavlidou, Vijaya Ramachandran, Veronica Govender, Clare Wilson, Rini Das, Victoria Vlachou, Evangelos Pavlou, Anand Saggar, Kshitij Mankad, Maria Kinali
Pelizaeus–Merzbacher disease (PMD) is a rare, X-linked disorder characterized by hypomyelination of the Central Nervous System due to mutations in the PLP1 gene. Certain mutations of the PLP1 gene correlate with specific clinical phenotypes and neuroimaging findings. We herein report a novel mutation of the PLP1 gene in two siblings with PMD associated with a rare and protean neuroimaging finding of optic nerve enlargement. To the best of our knowledge this is the first time that this novel mutation H133P of PLP1 gene is identified and clinically associated with optic nerve enlargement in PMD patients.



http://ift.tt/2dXl6Kh