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)

1 TIMONE - Hôpital de la Timone [CHU - APHM]
2 ICM - Institut du Cerveau et de la Moëlle Epinière = Brain and Spine Institute
3 Service de Neuroradiologie [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 TCDV - Troubles cognitifs dégénératifs et vasculaires - U 1171
8 Comportement et noyaux gris centraux = Behavior and Basal Ganglia [Rennes]
9 Service de neurologie [Rennes]
10 LNEC - Laboratoire de neurosciences expérimentales et cliniques
11 Département de génétique médicale [Hôpital de la Timone - APHM]

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

Domains: Life Sciences [q-bio]; Neurons and Cognition [q-bio.NC]; Neurobiology; Life Sciences [q-bio]; Genetics; Human genetics

Boris Dufournet, Karine Nguyen, Perrine Charles, David Grabli, Aurelia Jacquette, et al.. Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment. Revue Neurologique, 2017, 173 (6), pp.406-410. ⟨10.1016/j.neurol.2017.03.021⟩. ⟨hal-01585889⟩