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Ayrignac, Xavier; Carra-Dalliere, Clarisse; Menjot de Champfleur, Nicolas; Denier, Christian; Aubourg, Patrick; Bellesme, Celine; Castelnovo, Giovanni; Pelletier, Jean; Audoin, Bertrand; Kaphan, Elsa; de Seze, Jerome; Collongues, Nicolas; Blanc, Frederic; Chanson, Jean-Baptiste; Magnin, Eloi; Berger, Eric; Vukusic, Sandra; Durand-Dubief, Francoise; Camdessanche, Jean-Philippe; Cohen, Mickael; Lebrun-Frenay, Christine; Brassat, David; Clanet, Michel; Vermersch, Patrick; Zephir, Helene; Outteryck, Olivier; Wiertlewski, Sandrine; Laplaud, David-Axel; Ouallet, Jean-Christophe; Brochet, Bruno; Goizet, Cyril; Debouverie, Marc; Pittion, Sophie; Edan, Gilles; Deburghgraeve, Véronique; Le Page, Emmanuelle; Verny, Christophe; Amati-Bonneau, Patrizia; Bonneau, Dominique; Hannequin, Didier; Guyant-Maréchal, Lucie; Derache, Nathalie; Defer, Gilles Louis; Moreau, Thibault; Giroud, Maurice; Guennoc, Anne Marie; Clavelou, Pierre; Taithe, Frédérique; Mathis, Stephane; Neau, Jean-Philippe; Magy, Laurent; Devoize, Jean Louis; Bataillard, Marc; Masliah-Planchon, Julien; Dorboz, Imen; Tournier-Lasserve, Elisabeth; Levade, Thierry; Boespflug Tanguy, Odile; Labauge, Pierre
Brain (London, England : 1878), 02/2015, Volume: 138, Issue: Pt 2Journal Article
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, n = 32) and COL4A1 mutation, n = 7. In the cavitary group, 13/17 (76%) patients had a diagnosis of EIF2B-related disorder. In the third group (n = 82), a systematic biological screening allowed a diagnosis in 23 patients (28%) and oriented direct genetic screening identified 21 additional diseases (25.6%). Adult-onset genetic leukoencephalopathies are a rare but probably underestimated entity. Our study confirms the use of a magnetic resonance imaging-based classification with a final diagnosis rate of 64% (98/154) cases.
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