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Xavier Ayrignac, Clarisse Carra-Dalliere, Nicolas Menjot de Champfleur, Christian Denier, Patrick Aubourg, Celine Bellesme, Giovanni Castelnovo, Jean Pelletier, Bertrand Audoin, Elsa Kaphan, Jerome de Seze, Nicolas Collongues, Frederic Blanc, Jean-Baptiste Chanson, Eloi Magnin, Eric Berger, Sandra Vukusic, Francoise Durand-Dubief, Jean-Philippe Camdessanche, Mickael Cohen, Christine Lebrun-Frenay, David Brassat, Michel Clanet, Patrick Vermersch, Helene Zephir, Olivier Outteryck, Sandrine Wiertlewski, David-Axel Laplaud, Jean-Christophe Ouallet, Bruno Brochet, Cyril Goizet, Marc Debouverie, Sophie Pittion, Gilles Edan, Véronique Deburghgraeve, Emmanuelle Le Page, Christophe Verny, Patrizia Amati-Bonneau, Dominique Bonneau, Didier Hannequin, Lucie Guyant-Maréchal, Nathalie Derache, Gilles Louis Defer, Thibault Moreau, Maurice Giroud, Anne Marie Guennoc, Pierre Clavelou, Frédérique Taithe, Stephane Mathis, Jean-Philippe Neau, Laurent Magy, Jean Louis Devoize, Marc Bataillard, Julien Masliah-Planchon, Imen Dorboz, Elisabeth Tournier-Lasserve, Thierry Levade, Odile Boespflug Tanguy, Pierre Labauge, Adult-onset genetic leukoencephalopathies: A MRI pattern-based approach in a comprehensive study of 154 patients, Brain, Volume 138, Issue 2, February 2015, Pages 284–292, https://doi.org/10.1093/brain/awu353
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Abstract
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.
