Parkinson's disease associated with 22q11.2 ...
Document type :
Article dans une revue scientifique
PMID :
Permalink :
Title :
Parkinson's disease associated with 22q11.2 deletion: Clinical characteristics and response to treatment
Author(s) :
Dufournet, Boris [Auteur]
Nguyen, Karine [Auteur]
Charles, Perrine [Auteur]
Grabli, David [Auteur]
Jacquette, Aurelia [Auteur]
Borg, Michel [Auteur]
Danaila, Teodor [Auteur]
Mutez, Eugenie [Auteur]
Drapier, Sophie [Auteur]
Colin, Olivier [Auteur]
Eusebio, Alexandre [Auteur]
Philip, Nicole [Auteur]
Azulay, Jean Philippe [Auteur]
Nguyen, Karine [Auteur]
Charles, Perrine [Auteur]
Grabli, David [Auteur]
Jacquette, Aurelia [Auteur]
Borg, Michel [Auteur]
Danaila, Teodor [Auteur]
Mutez, Eugenie [Auteur]

Drapier, Sophie [Auteur]
Colin, Olivier [Auteur]
Eusebio, Alexandre [Auteur]
Philip, Nicole [Auteur]
Azulay, Jean Philippe [Auteur]
Journal title :
Revue neurologique
Abbreviated title :
Rev Neurol (Paris)
Volume number :
173
Pages :
406-410
Publisher :
Elsevier Masson
Publication date :
2017
ISSN :
0035-3787
Keyword(s) :
Deep brain stimulation
Genetics
22q112 deletion syndrome
Early-onset parkinson's disease
Phenotype
Genetics
22q112 deletion syndrome
Early-onset parkinson's disease
Phenotype
French 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. ...
Show more >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.Show less >
Show more >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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Research team(s) :
Troubles cognitifs dégénératifs et vasculaires
Submission date :
2020-02-19T12:44:08Z
2020-02-19T12:46:08Z
2020-02-19T12:46:08Z
Files
- documen
- Open access
- Access the document