Title :

Seizures in dominantly inherited alzheimer disease

Author(s) :

Zarea, Aline [Auteur]
Charbonnier, Camille [Auteur]
Rovelet-Lecrux, Anne [Auteur]
Nicolas, Gael [Auteur]
Rousseau, Stéphane [Auteur]
Borden, Alaina [Auteur]
Pariente, Jeremie [Auteur]
Le Ber, Isabelle [Auteur]
Pasquier, Florence [Auteur]
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Troubles cognitifs dégénératifs et vasculaires - U1171
Troubles cognitifs dégénératifs et vasculaires - U 1171 - EA 1046 [TCDV]
Formaglio, Maite [Auteur]
Martinaud, Olivier [Auteur]
Rollin-Sillaire, Adeline [Auteur]
Sarazin, Marie [Auteur]
Croisile, Bernard [Auteur]
Boutoleau-Bretonniere, Claire [Auteur]
Ceccaldi, Mathieu [Auteur]
Gabelle, Audrey [Auteur]
Chamard, Ludivine [Auteur]
Blanc, Frederic [Auteur]
Sellal, François [Auteur]
Paquet, Claire [Auteur]
Campion, Dominique [Auteur]
Hannequin, Didier [Auteur]
Wallon, David [Auteur]

Journal title :

Neurology

Abbreviated title :

Neurology

Volume number :

87

Pages :

912-919

Publication date :

2016-08-30

ISSN :

0028-3878

HAL domain(s) :

Sciences du Vivant [q-bio]

English abstract : [en]

OBJECTIVE: To assess seizure frequency in a large French cohort of autosomal dominant early-onset Alzheimer disease (ADEOAD) and to determine possible correlations with causative mutations. METHODS: A national multicentric ...
Show more >OBJECTIVE: To assess seizure frequency in a large French cohort of autosomal dominant early-onset Alzheimer disease (ADEOAD) and to determine possible correlations with causative mutations. METHODS: A national multicentric study was performed in patients with ADEOAD harboring a pathogenic mutation within PSEN1, PSEN2, APP, or a duplication of APP, and a minimal follow-up of 5 years. Clinical, EEG, and imaging data were systematically recorded. RESULTS: We included 132 patients from 77 families: 94 PSEN1 mutation carriers (MCs), 16 APP duplication carriers, 15 APP MCs, and 7 PSEN2 MCs. Seizure frequency was 47.7% after a mean follow-up of 8.4 years (range 5-25). After 5-year follow-up and using a Cox model analysis, the percentages of patients with seizures were respectively 19.1% (10.8%-26.7%) for PSEN1, 28.6% (0%-55.3%) for PSEN2, 31.2% (4.3%-50.6%) for APP duplications, and no patient for APP mutation. APP duplication carriers showed a significantly increased seizure risk compared to both APP MCs (hazard ratio [HR] = 5.55 [95% confidence interval 1.87-16.44]) and PSEN1 MCs (HR = 4.46 [2.11-9.44]). Among all PSEN1 mutations, those within the domains of protein hydrophilic I, transmembrane II (TM-II), TM-III, TM-IV, and TM-VII were associated with a significant increase in seizure frequency compared to other domains (HR = 4.53 [1.93-10.65], p = 0.0005). CONCLUSIONS: Seizures are a common feature of ADEOAD. In this population, risk was significantly higher in the APP duplication group than in all other groups. Within PSEN1, 5 specific domains were associated with a higher seizure risk indicating specific correlations between causative mutation and seizures.Show less >

Language :

Anglais

Audience :

Internationale

Popular science :

Non

Administrative institution(s) :

CHU Lille
CNRS
Inserm
Université de Lille

Collections :

• Lille Neurosciences & Cognition (LilNCog) - U 1172

Research team(s) :

Troubles cognitifs dégénératifs et vasculaires

Submission date :

2019-11-27T14:30:27Z
2020-02-19T10:05:33Z