Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Przeglądasz jako GOŚĆ
Tytuł pozycji:

Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort

Tytuł :
Genetic and Phenotypic Basis of Autosomal Dominant Parkinson's Disease in a Large Multi-Center Cohort
Autorzy :
Suzanne Lesage
Marion Houot
Graziella Mangone
Christelle Tesson
Hélène Bertrand
Sylvie Forlani
Mathieu Anheim
Christine Brefel-Courbon
Emmanuel Broussolle
Stéphane Thobois
Philippe Damier
Franck Durif
Emmanuel Roze
François Tison
David Grabli
Fabienne Ory-Magne
Bertrand Degos
François Viallet
Florence Cormier-Dequaire
Anne-Marie Ouvrard-Hernandez
Marie Vidailhet
Ebba Lohmann
Andrew Singleton
Jean-Christophe Corvol
Alexis Brice
for the French Parkinson disease Genetics Study Group(PDG)
Pokaż więcej
Temat :
Parkinson's disease
LRRK2
G2019S
SNCA
VPS35
autosomal dominant inheritance
Neurology. Diseases of the nervous system
RC346-429
Źródło :
Frontiers in Neurology, Vol 11 (2020)
Wydawca :
Frontiers Media S.A., 2020.
Rok publikacji :
2020
Kolekcja :
LCC:Neurology. Diseases of the nervous system
Typ dokumentu :
article
Opis pliku :
electronic resource
Język :
English
ISSN :
1664-2295
Relacje :
https://www.frontiersin.org/article/10.3389/fneur.2020.00682/full; https://doaj.org/toc/1664-2295
DOI :
10.3389/fneur.2020.00682
Dostęp URL :
https://doaj.org/article/ab626b59f2644450b53b69ad6bb750ad
Numer akcesji :
edsdoj.b626b59f2644450b53b69ad6bb750ad
Czasopismo naukowe
LRRK2, SNCA, and VPS35 are unequivocally associated with autosomal dominant Parkinson's disease (PD). We evaluated the prevalence of LRRK2, SNCA, and VPS35 mutations and associated clinical features in a large French multi-center cohort of PD patients. Demographic and clinical data were collected for 1,805 index cases (592 with autosomal dominant inheritance and 1,213 isolated cases) since 1990. All probands were screened with TaqMan assays for LRRK2 Gly2019Ser. In the absence of this mutation, the coding sequences of the three genes were analyzed by Sanger sequencing and/or next-generation sequencing. The data for the three genes were analyzed according to age at onset, family history, ethnic origin and clinical features. We identified 160 index cases (8.9%) with known pathogenic variants: 138 with pathogenic LRRK2 variants (7.6%), including 136 with the Gly2019Ser mutation, 19 with SNCA point mutations or genomic rearrangements (1.1%), and three with the VPS35 Asp620Asn mutation (0.16%). Mutation frequencies were higher in familial than isolated cases, consistent with autosomal dominant inheritance (12.0 vs. 7.3%; OR 1.7, 95% CI [1.2–2.4], p = 0.001). PD patients with LRRK2 variants were more likely to have higher rates of late-onset PD (>50 years; OR 1.5, 95% CI [1.0–2.1], p = 0.03), whereas those with SNCA mutations tended to have earlier age at onset disease (≤ 50 years, p = 0.06). The clinical features of LRRK2 carriers and those without any pathogenic variants in known PD-associated genes were similar. The likelihood of detecting disease-causing mutations was higher in cases compatible with autosomal dominant inheritance.

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies