Article
Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease.
Clinical neurology and neurosurgery - 1 Dec 2008
Damon-Perriere Nathalie, Menegon Patrice, Olivier Anne, Boespflug-Tanguy Odile, Niel Florence, Creveaux Isabelle, Dousset Vincent, Brochet Bruno, Goizet Cyril
Abstract excerpt
Vanishing white matter (VWM) disease, also known as childhood ataxia with central nervous system hypomyelination (CACH) syndrome, is an autosomal recessive transmitted leukodystrophy. Classically characterised by early childhood onset, adult onset formed with slower progression have been recently recognized. The course of neurological impairment is usually progressive with possible occasional episodes of acute...
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