Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment

Boris Dufournet; Karine Nguyen; Perrine Charles; David Grabli; Aurelia Jacquette; Michel Borg; Teodor Danaila; Eugénie Mutez; Sophie Drapier; Olivier Colin; Alexandre Eusebio; Nicole Philip; Jean Philippe Azulay

doi:10.1016/j.neurol.2017.03.021

Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment

Boris Dufournet ^{1, *} Karine Nguyen ¹ Perrine Charles ² David Grabli ^{3, 4, 2} Aurelia Jacquette ² Michel Borg ⁵ Teodor Danaila ⁶ Eugénie Mutez ⁷ Sophie Drapier ^{8, 9} Olivier Colin ¹⁰ Alexandre Eusebio ¹ Nicole Philip ¹¹ Jean Philippe Azulay ¹

* Auteur correspondant

1 TIMONE - Hôpital de la Timone [CHU - APHM]

2 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute

3 Service d'Explorations Fonctionnelles Neurologie [CHU Pitié-Salpêtrière]

4 Centre expert inter-régional de coordination de la maladie de Parkinson [CHU Pitié-Salpêtrière]

5 CHU Nice - Centre Hospitalier Universitaire de Nice

6 CNC - Institut des sciences cognitives Marc Jeannerod - Centre de neuroscience cognitive - UMR5229

7 DN2M - Troubles cognitifs dégénératifs et vasculaires

8 Comportement et noyaux gris centraux [Rennes]

9 Service de neurologie [Rennes]

10 LNEC - Laboratoire de neurosciences expérimentales et cliniques

11 Département de génétique médicale [Hôpital de la Timone - APHM]

Abstract : Background. - While it is known that 22q11.2 microdeletions (22q11.2-del) increase the risk of Parkinson's disease (PD), the characteristics of PD associated with 22q11.2-del have not been specifically explored. Objective. - This report aimed to assess the clinical characteristics and treatment responses of PD patients with 22q11.2-del, and to describe any features that might lead neurologists to investigate the comorbidity. Methods. - Nine PD patients (eight men, one woman) with 22q11.2-del were followed at seven centers of the French PD Expert Network (Ns-Park). Results. - PD diagnosis was made before 22q11.2-del diagnosis in seven cases; their main characteristics were early onset (32-48 years) and good initial levodopa sensitivity, but with a course characterized by severe and early-onset levodopa-induced motor complications and psychiatric manifestations. Three patients received deep brain stimulation (DBS) that was effective. Conclusion. - Searching for 22q11.2-del in PD patients presenting with suggestive features is relevant as the clinical presentation is similar to idiopathic PD, but with other associated characteristics, including a severe evolution. Results with DBS are similar to those reported for idiopathic PD.

Keywords : deep brain stimulation genetics 22q11.2 deletion syndrome early-onset parkinson's disease phenotype

Type de document :

Article dans une revue

Revue Neurologique, Elsevier Masson, 2017, 173 (6), pp.406-410. 〈10.1016/j.neurol.2017.03.021〉

Domaine :

Sciences du Vivant [q-bio] / Neurosciences [q-bio.NC] / Neurobiologie

Sciences du Vivant [q-bio] / Génétique / Génétique humaine

Liste complète des métadonnées

https://hal-univ-rennes1.archives-ouvertes.fr/hal-01585889
Contributeur : Laurent Jonchère <>
Soumis le : jeudi 12 octobre 2017 - 11:22:04
Dernière modification le : jeudi 21 mars 2019 - 12:26:52

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