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

Suzanne Lesage 1 Christel Condroyer 1 Stephan Klebe 2 Aurélie Honoré 1 François Tison 3 Christine Brefel-Courbon 4 Alexandra Dürr 5 Alexis Brice 5, *
* Corresponding author
1 INSERM UMR_S975
CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
2 INSERM UMR_S9745
CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
5 INSERM UMR_S975
Service de Génétique Cytogénétique et Embryologie [CHU Pitié-Salpêtrière], CRICM - Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière
Abstract : 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).
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Suzanne Lesage, Christel Condroyer, Stephan Klebe, Aurélie Honoré, François Tison, et al.. Identification of VPS35 mutations replicated in French families with Parkinson disease.. Neurology, American Academy of Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩. ⟨inserm-00807463⟩

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