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

Xavier Ayrignac 1 Clarisse Carra Dallière 1 Nicolas Menjot de Champfleur 2, 1, 3 Christian Denier 4 Patrick Aubourg 5 Celine Bellesme 5 Giovanni Castelnovo 6 Jean Pelletier 7 Bertrand Audoin 8 Elsa Kaphan 7 Jerome de Seze 9 Nicolas Collongues 10 Frederic Blanc 10 Jean-Baptiste Chanson 11 Eloi Magnin 12 Eric Berger 12 Sandra Vukusic 8 Francoise Durand-Dubief 13 Jean-Philippe Camdessanche 14 Mickael Cohen 15 Christine Lebrun-Frenay 15 David Brassat 16 Michel Clanet 8 Patrick Vermersch 17 Helene Zephir 17 Olivier Outteryck 18 Sandrine Wiertlewski 19 David-Axel Laplaud 19 Jean-Christophe Ouallet 20 Bruno Brochet 20 Cyril Goizet 21 Marc Debouverie 22, 23 Sophie Pittion 23 Gilles Edan 24, 25, 26 Véronique Deburghgraeve 27 Emmanuelle Le Page 27 Christophe Verny 28 Patrizia Amati-Bonneau 29, 30 Dominique Bonneau 31, 32 Didier Hannequin 33 Lucie Guyant-Maréchal 34 Nathalie Derache 35 Gilles Louis Defer 35 Thibault Moreau 36 Maurice Giroud 37 Anne Marie Guennoc 38 Pierre Clavelou 39 Frédérique Taithe 39 Stephane Mathis 40 Jean-Philippe Neau 40 Laurent Magy 41 Jean Louis Devoize 42 Marc Bataillard 10 Julien Masliah-Planchon 43 Imen Dorboz 44 Elisabeth Tournier-Lasserve 45 Thierry Levade 46 Odile Boespflug Tanguy 45 Pierre Labauge 47, 48
11 Laboratoire d'imagerie et de neurosciences cognitives (Strasbourg)
LINC - Laboratoire d'Imagerie et de Neurosciences Cognitives
13 RMN et optique : De la mesure au biomarqueur
CREATIS - Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé
24 VisAGeS - Vision, Action et Gestion d'informations en Santé
INSERM - Institut National de la Santé et de la Recherche Médicale : U746, Inria Rennes – Bretagne Atlantique , IRISA-D5 - SIGNAUX ET IMAGES NUMÉRIQUES, ROBOTIQUE
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.
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Submitted on : Thursday, April 2, 2015 - 11:31:28 AM
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Xavier Ayrignac, Clarisse Carra Dallière, Nicolas Menjot de Champfleur, Christian Denier, Patrick Aubourg, et al.. Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.. Brain - A Journal of Neurology , Oxford University Press (OUP), 2015, 138 (Pt 2), pp.284-92. ⟨10.1093/brain/awu353⟩. ⟨hal-01138578⟩

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