Identification of VPS35 mutations replicated in French families with Parkinson disease. - Inserm - Institut national de la santé et de la recherche médicale Accéder directement au contenu
Article Dans Une Revue Neurology Année : 2012

Identification of VPS35 mutations replicated in French families with Parkinson disease.

Résumé

Parkinson disease (PD) is a progressive neurodegenerative disorder that mainly affects the elderly. Recently, the groups of Vilariño-Güell (2011) and Zimprich (2011) simultaneously reported identification, using next generation sequencing technologies, of p.Asp620Asn mutations in a novel gene, VPS35, that segregated with autosomal dominant late-onset PD in two large families from Switzerland and Austria, respectively. Screening of the whole gene in additional PD families led to the identification of six more families with the VPS35 p.Asp620Asn mutation (mutation frequencies: 0.0009 and 0.002, respectively). Here we screened the entire VPS35 coding sequence in 246 families with autosomal dominant PD, mostly of French origin. We found the p.Asp620Asn mutation in three French families that was absent in 245 European controls. The mutation frequency, 0.012, is greater than in the previous studies. No other potentially pathogenic VPS35 variants were detected in any of the remaining index cases. The associated phenotype in five patients in the three French families with the VPS35 p.Asp620Asn mutation resembles that of typical, late-onset PD, with a wide range of ages at onset (38 to 67 years).
Fichier sous embargo
Fichier sous embargo
Date de visibilité indéterminée
Loading...

Dates et versions

inserm-00807463 , version 1 (03-04-2013)

Identifiants

Citer

Suzanne Lesage, Christel Condroyer, Stephan Klebe, Aurélie Honoré, François Tison, et al.. Identification of VPS35 mutations replicated in French families with Parkinson disease.. Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩. ⟨inserm-00807463⟩
282 Consultations
1 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More