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

作者：Pavlidou Efterpi; Ramachandran Vijaya; Govender Veronica; Wilson Clare; Das Rini; Vlachou Victoria; Pavlou Evangelos; Saggar Anand; Mankad Kshitij; Kinali Maria^*

来源：Brain & Development, 2017, 39(3): 271-274.

DOI：10.1016/j.braindev.2016.09.012

• Pelizaeus-Merzbacher disease
• Mutation
• PLP1 gene
• Optic nerve enlargement

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 H1

• 出版日期2017-3