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

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.
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Revue Neurologique, Elsevier Masson, 2017, 173 (6), pp.406-410. 〈10.1016/j.neurol.2017.03.021〉
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Soumis le : jeudi 12 octobre 2017 - 11:22:04
Dernière modification le : jeudi 30 novembre 2017 - 09:19:53

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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, Elsevier Masson, 2017, 173 (6), pp.406-410. 〈10.1016/j.neurol.2017.03.021〉. 〈hal-01585889〉

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