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

Journal articles

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}

1 CHU Montpellier

2 UM1 - Université Montpellier 1

3 INM - Institut des Neurosciences de Montpellier - Déficits sensoriels et moteurs

4 Department of Neuroradiology

5 AP-HP Hôpital Bicêtre (Le Kremlin-Bicêtre)

6 CHU Nîmes - Centre Hospitalier Universitaire de Nîmes

7 CHU Marseille

8 CRMBM - Centre de résonance magnétique biologique et médicale

9 Service de neurologie [Strasbourg]

10 CHU Strasbourg

11 Laboratoire d'imagerie et de neurosciences cognitives (Strasbourg)

LINC - Laboratoire d'Imagerie et de Neurosciences Cognitives

12 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon

13 RMN et optique : De la mesure au biomarqueur

CREATIS - Centre de Recherche en Acquisition et Traitement de l'Image pour la Santé

14 CHU Saint-Etienne

15 CHU Nice - Centre Hospitalier Universitaire de Nice

16 Pôle neurosciences [Hôpital de Purpan - Toulouse]

17 CHRU Lille - Centre Hospitalier Régional Universitaire [Lille]

18 EA 2686 - Laboratoire d'Immunologie

19 CHU Nantes - Centre hospitalier universitaire de Nantes

20 CHU Bordeaux [Bordeaux]

21 Service de génétique médicale

22 CIC - Centre d'investigation clinique [Nancy]

23 Service de neurologie [CHRU Nancy]

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

25 Service de Neurologie [Rennes] = Neurology [Rennes]

26 CIC - Centre d'Investigation Clinique [Rennes]

27 CHU Pontchaillou [Rennes]

28 BICETRE - Géronto - Service de Gérontologie

29 CHU Angers - Centre Hospitalier Universitaire d'Angers

30 BNMI - Biologie Neurovasculaire et Mitochondriale Intégrée

31 Mitochondrie : Régulations et Pathologie

32 Service de génétique

33 GMFC - Génétique du cancer et des maladies neuropsychiatriques

34 Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques

35 Service de Neurologie [CHU Caen]

36 CESP - Centre de recherche en épidémiologie et santé des populations

37 CHU Dijon

38 CHU Trousseau [Tours]

39 CHU Clermont-Ferrand

40 CHU Poitiers - Centre hospitalier universitaire de Poitiers

41 Service de Neurologie [CHU Limoges]

42 CH Angoulême - Centre Hospitalier d'Angoulême

43 Inserm U745 - Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux

44 PROTECT - Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies

45 USPC - Université Sorbonne Paris Cité

46 CHU Toulouse [Toulouse]

47 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]

48 UM - Université de Montpellier

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.

Keywords : metabolic leukoencephalopathies genetic leukodystrophy MRI

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Journal articles

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Life Sciences [q-bio]

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https://hal-univ-rennes1.archives-ouvertes.fr/hal-01138578
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Submitted on : Thursday, April 2, 2015 - 11:31:28 AM
Last modification on : Friday, January 21, 2022 - 3:14:49 AM

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.

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