B Dufournet1, K Nguyen2, P Charles3, D Grabli4, A Jacquette3, M Borg5, T Danaila6, E Mutez7, S Drapier8, O Colin9, A Eusebio10, N Philip2, J P Azulay10. 1. Department of Clinical Neurosciences (Movement Disorders), Timone University Hospital (AP-HM), 264 rue Saint Pierre, 13385 Marseille Cedex 5, France; Aix-Marseille University, Marseille, France. Electronic address: boris.dufournet@ap-hm.fr. 2. Department of Genetics (Neurogenetics), Timone University Hospital (AP-HM), Marseille, France; Aix-Marseille University, Marseille, France. 3. Department of Genetics (Neurogenetics), Pitié-Salpêtrière University Hospital (AP-HP), Paris, France; Sorbonne University, UPMC Paris 06 (UMR S 1127, CNRS UMR 7225, ICM), Paris, France. 4. Department of Neurology (Movement Disorders), Pitié-Salpêtrière University Hospital (AP-HP), Paris, France; Sorbonne University, UPMC Paris 06 (UMR S 1127, CNRS UMR 7225, ICM), Paris, France. 5. Department of Clinical Neurosciences (Movement Disorders), Nice University Hospital, Nice, France. 6. Department of Neurology (Movement Disorders), Pierre Wertheimer University Hospital (HCL), Lyon, France; Lyon-1 University, Marc Jeannerod Center for Cognitives Neurosciences (CNRS UMR 5229), Lyon, France. 7. Department of Neurosciences (Movement Disorders), Lille University Hospital, Lille, France; Lille University (INSERM U1171), Lille, France. 8. Department of Neurology (Movement Disorders), Rennes University Hospital, Rennes, France; Rennes-1 University (URU 4712 "Basal Ganglia & Behavior"), Rennes, France. 9. Department of Neurology (Movement Disorders), Poitiers University Hospital, Poitiers, France; Clinical Investigation Center (INSERM CIC 0802 & INSERM U1084, Clinical and Experimental Neurosciences), Poitiers University Hospital, Poitiers, France. 10. Department of Clinical Neurosciences (Movement Disorders), Timone University Hospital (AP-HM), 264 rue Saint Pierre, 13385 Marseille Cedex 5, France; Aix-Marseille University, Marseille, France.
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.
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 PDpatients with 22q11.2-del, and to describe any features that might lead neurologists to investigate the comorbidity. METHODS: Nine PDpatients (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 PDpatients 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.
Authors: Vincent Van Iseghem; Eavan McGovern; Emmanuelle Apartis; Boris Keren; Marie Vidailhet; Emmanuel Roze; Bertrand Degos Journal: Tremor Other Hyperkinet Mov (N Y) Date: 2020-01-24
Authors: Erik Boot; Nancy J Butcher; Sean Udow; Connie Marras; Kin Y Mok; Satoshi Kaneko; Matthew J Barrett; Paolo Prontera; Brian D Berman; Mario Masellis; Boris Dufournet; Karine Nguyen; Perrine Charles; Eugénie Mutez; Teodor Danaila; Aurélia Jacquette; Olivier Colin; Sophie Drapier; Michel Borg; Ania M Fiksinski; Elfi Vergaelen; Ann Swillen; Annick Vogels; Annika Plate; Claudia Perandones; Thomas Gasser; Kristien Clerinx; Frédéric Bourdain; Kelly Mills; Nigel M Williams; Nicholas W Wood; Jan Booij; Anthony E Lang; Anne S Bassett Journal: Neurology Date: 2018-05-11 Impact factor: 9.910
Authors: Lauren Welby; Hailey Caudill; Gelila Yitsege; Ali Hamad; Filiz Bunyak; Irene E Zohn; Thomas Maynard; Anthony-Samuel LaMantia; David Mendelowitz; Teresa E Lever Journal: Front Neurol Date: 2020-01-31 Impact factor: 4.003