Article
Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF.
Neurology - 11 May 2004
Wolf N I, Willemsen M A A P, Engelke U F, van der Knaap M S, Pouwels P J W, Harting I, Zschocke J, Sistermans E A, Rating D, Wevers R A
Abstract excerpt
BACKGROUND: Two unrelated girls had early onset of nystagmus and epilepsy, absent psychomotor development, and almost complete absence of myelin on cerebral MRI. The clinical features and MR images of both patients resembled the connatal form of Pelizaeus-Merzbacher disease (PMD), which is an X-linked recessive disorder caused by duplications or mutations of the proteolipid protein gene (PLP). OBJECTIVE: To...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.