Article
A novel hereditary extensive vascular leukoencephalopathy mapping to chromosome 20q13.
Neurology - 4 Dec 2012
Hervé Dominique, Chabriat Hugues, Rigal Mélanie, Dalloz Marie-Amelie, Kawkabani Marchini Aida, De Lepeleire Jean, Fontaine Bertrand, Ceuterick-de Groote Chantal, Alili Nassira, Mine Manuele, Delaforge Audrey, Bousser Marie-Germaine, Guichard Jean-Pierre, Martin Jean-Jacques, Gray Françoise, Tournier-Lasserve Elisabeth
Abstract excerpt
OBJECTIVE: The detection of a leukoencephalopathy is a frequent situation in neurologic practice. In a number of cases, the etiology remains obscure despite extensive investigations. We characterized the clinical, pathologic, and genetic features of a novel hereditary vascular leukoencephalopathy. METHODS: After the observation of a similar leukoencephalopathy in 2 sisters, clinical, neuroimaging, and molecular...
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