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Identification of VPS35 mutations replicated in French families with Parkinson disease
- Source :
- Neurology, Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩, Neurology, Vol. 78, No 18 (2012) pp. 1449-50, Neurology, American Academy of Neurology, 2012, 78 (18), pp.1449-50. ⟨10.1212/WNL.0b013e318253d5f2⟩
- Publication Year :
- 2012
-
Abstract
- International audience; 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).
- Subjects :
- Male
MESH: Vesicular Transport Proteins
DNA Mutational Analysis
Vesicular Transport Proteins
medicine.disease_cause
Bioinformatics
VPS35
0302 clinical medicine
VPS35 Gene
Missense mutation
MESH: Genetic Variation
MESH: DNA Mutational Analysis
Vacuolar protein sorting
Genetics
MESH: Aged
0303 health sciences
Mutation
MESH: Middle Aged
MESH: Genetic Testing
MESH: Polymorphism, Single Nucleotide
Genetic Carrier Screening
Parkinson Disease
Middle Aged
Polymorphism, Single Nucleotide/genetics
Genetic Variation/genetics
Mutation, Missense/genetics
[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Female
France
Adult
Mutation, Missense
MESH: Genetics, Population
Biology
Heterozygote Detection
Polymorphism, Single Nucleotide
DNA sequencing
Vesicular Transport Proteins/genetics
03 medical and health sciences
medicine
Humans
Parkinson Disease/diagnosis/genetics
[SDV.NEU] Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]
Genetic Testing
Gene
Alleles
030304 developmental biology
Aged
MESH: Mutation, Missense
MESH: Humans
MESH: Heterozygote Detection
MESH: Alleles
Genetic Variation
MESH: Adult
MESH: Haplotypes
medicine.disease
MESH: Male
ddc:616.8
MESH: France
Miller syndrome
Genetics, Population
Haplotypes
Neurology (clinical)
MESH: Female
030217 neurology & neurosurgery
MESH: Parkinson Disease
Subjects
Details
- ISSN :
- 1526632X and 00283878
- Volume :
- 78
- Issue :
- 18
- Database :
- OpenAIRE
- Journal :
- Neurology
- Accession number :
- edsair.doi.dedup.....be3982ff2c6fab63bc0ec3e2d8a04dd6