Article
A novel autosomal dominant leukodystrophy with specific MRI pattern.
Journal of neurology - 1 Jan 2015
Corlobé A, Taithe F, Clavelou P, Pierre E, Carra-Dallière C, Ayrignac X, Mouzat K, Lumbroso S, Menjot de Champfleur N, Koenig M, Boespflug-Tanguy O, Labauge P
Abstract excerpt
Etiologic diagnosis of adulthood leukodystrophy is challenging in neurologic practice. We describe here the clinico-radiological features of a novel autosomal dominant leukodystrophy in a single family. Clinical and MRI features were recorded in a three generation family. Exome sequencing was performed in two affected relatives and one healthy member. Four total relatives (3 women and 1 man, mean age at onset:...
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