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

Xavier Ayrignac; Clarisse Carra Dallière; 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

doi:10.1093/brain/awu353

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

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

Xavier Ayrignac, Clarisse Carra Dallière, Nicolas Menjot de Champfleur, Christian Denier, Patrick Aubourg, Celine Bellesme, Giovanni Castelnovo, Jean Pelletier, Bertrand Audoin, Elsa Kaphan, …

Brain - A Journal of Neurology , Vol.138(Pt 2), pp.284-92

31/01/2015

DOI: https://doi.org/10.1093/brain/awu353

PMID: 25527826

Abstract

genetic

metabolic

leukoencephalopathies

leukodystrophy

MRI

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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Title: Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients.
Creators - without role: Xavier Ayrignac - CHU Montpellier = Montpellier University Hospital
Clarisse Carra Dallière - CHU Montpellier = Montpellier University Hospital
Nicolas Menjot de Champfleur - Université Montpellier 1
Christian Denier - Bicêtre Hospital
Patrick Aubourg - Bicêtre Hospital
Celine Bellesme - Bicêtre Hospital
Giovanni Castelnovo - Centre Hospitalier Universitaire de Nîmes
Jean Pelletier - Charmo University
Bertrand Audoin - Centre de Résonance Magnétique Biologique et Médicale
Elsa Kaphan - Charmo University
Jerome de Seze - Biopathologie de la myéline, neuroprotection et stratégies thérapeutiques
Nicolas Collongues - Hôpitaux Universitaires de Strasbourg
Frederic Blanc - Hôpitaux Universitaires de Strasbourg
Jean-Baptiste Chanson - Biopathologie de la myéline, neuroprotection et stratégies thérapeutiques
Eloi Magnin - Centre Hospitalier Universitaire de Besançon
Eric Berger - Centre Hospitalier Universitaire de Besançon
Sandra Vukusic - Centre de Résonance Magnétique Biologique et Médicale
Francoise Durand-Dubief - Chimie et Biologie des Membranes et des Nanoobjects
Jean-Philippe Camdessanche - Centre Hospitalier Universitaire de Saint-Étienne
Mickael Cohen - Centre Hospitalier Universitaire de Nice
Christine Lebrun-Frenay - Centre Hospitalier Universitaire de Nice
David Brassat - Pôle Neurosciences [CHU Toulouse]
Michel Clanet - Centre de Résonance Magnétique Biologique et Médicale
Patrick Vermersch - Centre Hospitalier Universitaire de Lille
Helene Zephir - Centre Hospitalier Universitaire de Lille
Olivier Outteryck - Laboratoire d'Immunologie
Sandrine Wiertlewski - Centre Hospitalier Universitaire de Nantes
David-Axel Laplaud - Centre Hospitalier Universitaire de Nantes
Jean-Christophe Ouallet - Centre Hospitalier Universitaire de Bordeaux
Bruno Brochet - Centre Hospitalier Universitaire de Bordeaux
Cyril Goizet - Génétique Médicale & Génomique Fonctionelle
Marc Debouverie - Centre d'Investigation Clinique Pierre Drouin
Sophie Pittion - Centre Hospitalier Régional et Universitaire de Nancy
Gilles Edan - Centre Hospitalier Universitaire de Rennes
Véronique Deburghgraeve - Centre Hospitalier Universitaire de Rennes
Emmanuelle Le Page - Centre Hospitalier Universitaire de Rennes
Christophe Verny - Bicêtre Hospital
Patrizia Amati-Bonneau - Centre Hospitalier Universitaire d'Angers
Dominique Bonneau - Mitochondrie : Régulations et Pathologie
Didier Hannequin - Biotherapy of Genetic Diseases, Inflammatory Disorders and Cancers
Lucie Guyant-Maréchal - Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques
Nathalie Derache - Centre Hospitalier Universitaire de Caen
Gilles Louis Defer - Université de Caen Normandie
Thibault Moreau - Centre de recherche en Epidémiologie et Santé des Populations
Maurice Giroud - Centre Hospitalier Universitaire Dijon Bourgogne
Anne Marie Guennoc - Thion Medical
Pierre Clavelou - Centre Hospitalier Universitaire de Clermont-Ferrand
Frédérique Taithe - Centre Hospitalier Universitaire de Clermont-Ferrand
Stephane Mathis - Centre Hospitalier Universitaire de Poitiers
Jean-Philippe Neau - Centre hospitalier universitaire de Poitiers = Poitiers University Hospital
Laurent Magy - Hôpital Universitaire Dupuytren
Jean Louis Devoize - Centre Hospitalier d'Angoulême
Marc Bataillard - Hôpitaux Universitaires de Strasbourg
Julien Masliah-Planchon - Inserm
Imen Dorboz - Hôpital Robert-Debré
Elisabeth Tournier-Lasserve - Sorbonne Paris Cité
Thierry Levade - Centre Hospitalier Universitaire de Toulouse
Odile Boespflug Tanguy - Sorbonne Paris Cité
Pierre Labauge - Centre Hospitalier Universitaire de Montpellier
Publication Details: Brain - A Journal of Neurology , Vol.138(Pt 2), pp.284-92
Identifiers: 9934063409311
Academic Unit: Institut des Neurosciences de Montpellier - INM; Laboratoire Charles Coulomb - L2C
Language: English
Resource Type: Journal article
Local Fields: hal-01138578