Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. - Archive ouverte HAL Access content directly
Journal Articles Brain - A Journal of Neurology Year : 2015

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

1 CHU Montpellier
2 UM1 - Université Montpellier 1
3 INM - Institut des Neurosciences de Montpellier
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)
12 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
13 RMN et optique : De la mesure au biomarqueur
14 CHU Saint-Etienne
15 CHU Nice - Centre Hospitalier Universitaire de Nice
16 Pôle Neurosciences [CHU 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
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 - Centre Hospitalier Universitaire de Toulouse
47 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
48 UM - Université de Montpellier
Xavier Ayrignac
Clarisse Carra Dallière
Christian Denier
Jean Pelletier
Elsa Kaphan
Nicolas Collongues
Frederic Blanc
  • Function : Author
Mickael Cohen
David Brassat
Jean-Christophe Ouallet
Bruno Brochet
Cyril Goizet
  • Function : Author
  • PersonId : 925163
Maurice Giroud
  • Function : Author
Marc Bataillard
  • Function : Author


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.

Dates and versions

hal-01138578 , version 1 (02-04-2015)



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 , 2015, 138 (Pt 2), pp.284-92. ⟨10.1093/brain/awu353⟩. ⟨hal-01138578⟩
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