Article

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.
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.
CI - Copyright (c) 2017 Elsevier Masson SAS. All rights reserved.

Langue : ANGLAIS