Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. - INSA Lyon - Institut National des Sciences Appliquées de Lyon
Article Dans Une Revue Brain - A Journal of Neurology Année : 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 Hôpital Bicêtre [AP-HP, Le Kremlin-Bicêtre]
6 CHU Nîmes - Centre Hospitalier Universitaire de Nîmes
7 CHU Marseille
8 CRMBM - Centre de résonance magnétique biologique et médicale
9 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
10 CHRU Besançon - Centre Hospitalier Régional Universitaire de Besançon
11 RMN et optique : De la mesure au biomarqueur
12 CHU ST-E - Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne]
13 CHU Nice - Centre Hospitalier Universitaire de Nice
14 Pôle Neurosciences [CHU Toulouse]
15 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
16 EA 2686 - Laboratoire d'Immunologie
17 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
18 CHU Bordeaux - Centre Hospitalier Universitaire de Bordeaux
19 Service de génétique médicale
20 CIC - Centre d'investigation clinique [Nancy]
21 Service de neurologie [CHRU Nancy]
22 VisAGeS - Vision, Action et Gestion d'informations en Santé
23 Service de Neurologie [Rennes] = Neurology [Rennes]
24 CIC - Centre d'Investigation Clinique [Rennes]
25 Centre Hospitalier Universitaire de Rennes [CHU Rennes] = Rennes University Hospital [Pontchaillou]
26 BICETRE - Géronto - Service de Gérontologie
27 CHU Angers - Centre Hospitalier Universitaire d'Angers
28 BNMI - Biologie Neurovasculaire et Mitochondriale Intégrée
29 Mitochondrie : Régulations et Pathologie
30 Service de génétique
31 GMFC - Génétique du cancer et des maladies neuropsychiatriques
32 Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques
33 Service de Neurologie [CHU Caen]
34 CESP - Centre de recherche en épidémiologie et santé des populations
35 CHU Dijon
36 CHU Trousseau [Tours]
37 CHU Clermont-Ferrand
38 CHU de Poitiers [La Milétrie] - Centre hospitalier universitaire de Poitiers = Poitiers University Hospital
39 Service de Neurologie [CHU Limoges]
40 CH Angoulême - Centre Hospitalier d'Angoulême
41 Inserm U745 - Genetique et Biotherapies des Maladies Degeneratives et Proliferatives du Systeme Nerveux
42 PROTECT - Neuroprotection du Cerveau en Développement / Promoting Research Oriented Towards Early Cns Therapies
43 USPC - Université Sorbonne Paris Cité
44 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
45 CHRU Montpellier - Centre Hospitalier Régional Universitaire [Montpellier]
46 UM - Université de Montpellier
Xavier Ayrignac
Clarisse Carra Dallière
Christian Denier
Jean Pelletier
Elsa Kaphan
Mickael Cohen
David Brassat
Cyril Goizet
  • Fonction : Auteur
  • PersonId : 925163
Maurice Giroud
  • Fonction : Auteur

Résumé

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 et versions

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

Identifiants

Citer

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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