Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients

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TitreAdult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients
Type de publicationJournal Article
Year of Publication2015
AuteursAyrignac X, Carra-Dalliere C, de Champfleur NMenjot, Denier C, Aubourg P, Bellesme C, Castelnovo G, Pelletier J, Audoin B, Kaphan E, de Seze J, Collongues N, Blanc F, Chanson J-B, Magnin E, Berger E, Vukusic S, Durand-Dubief F, Camdessanche J-P, Cohen M, Lebrun-Frenay C, Brassat D, Clanet M, Vermersch P, Zephir H, Outteryck O, Wiertlewski S, Laplaud D-A, Ouallet J-C, Brochet B, Goizet C, Debouverie M, Pittion S, Edan G, Deburghgraeve V, Le Page E, Verny C, Amati-Bonneau P, Bonneau D, Hannequin D, Guyant-Marechal L, Derache N, Defer GLouis, Moreau T, Giroud M, Guennoc AMarie, Clavelou P, Taithe F, Mathis S, Neau J-P, Magy L, Devoize JLouis, Bataillard M, Masliah-Planchon J, Dorboz I, Tournier-Lasserve E, Levade T, Tanguy OBoespflug, Labauge P
JournalBRAIN
Volume138
Pagination284-292
Date PublishedFEB 1
Type of ArticleArticle
ISSN0006-8950
Mots-clésGenetic, leukodystrophy, leukoencephalopathies, metabolic, mri
Résumé

{Inherited white matter diseases are rare and heterogeneous disorders usually encountered in infancy. Adult-onset forms are increasingly recognized. Our objectives were to determine relative frequencies of genetic leukoencephalopathies in a cohort of adult-onset patients and to evaluate the effectiveness of a systematic diagnostic approach. Inclusion criteria of this retrospective study were: (i) symmetrical involvement of white matter on the first available brain MRI; (ii) age of onset above 16 years. Patients with acquired diseases were excluded. Magnetic resonance imaging analysis identified three groups (vascular, cavitary and non-vascular/non-cavitary) in which distinct genetic and/or biochemical testing were realized. One hundred and fifty-four patients (male/female = 60/94) with adult-onset leukoencephalopathies were identified. Mean age of onset was 38.6 years. In the vascular group, 41/55 patients (75%) finally had a diagnosis [including CADASIL (cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy
DOI10.1093/brain/awu353