Reference : Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MD...
Scientific journals : Article
Life sciences : Biochemistry, biophysics & molecular biology
Systems Biomedicine
http://hdl.handle.net/10993/37458
Genotype-phenotype relations for the Parkinson’s disease genes SNCA, LRRK2, VPS35: MDSGene Review.
English
Trinh, Joanne* []
Zeldenrust, Florentine M. J.* []
Huang, Jana* []
Kasten, Meike* []
Schaake, Susen []
Petkovic, Sonja []
Madoev, Harutyun []
Grünewald, Anne mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Almuammar, Shahad []
König, Inke R. []
Lill, Christina M. []
Lohmann, Katja []
Klein, Christine []
Marras, Connie []
* These authors have contributed equally to this work.
Dec-2018
Movement Disorders
John Wiley & Sons
33
12
1857-1870
Yes
International
0885-3185
1531-8257
Hoboken
NY
[en] Parkinson's disease ; autosomal dominant ; LRRK2 ; SNCA ; VPS35
[en] This comprehensive MDSGene review is devoted to the three autosomal-dominant PD forms: PARK-SNCA, PARK-LRRK2, and PARK-VPS35. It follows MDSGene's standardized data extraction protocol, screened a total of 2,972 citations, and is based on fully curated phenotypic and genotypic data on 937 patients with dominantly inherited PD attributed to 44 different mutations in SNCA, LRRK2, or VPS35. All of these data are also available in an easily searchable online database (www.mdsgene.org), which additionally provides descriptive summary statistics on phenotypic and genetic data. Despite the high degree of missingness of phenotypic features and unsystematic reporting of genotype data in the original literature, the present review recapitulates many of the previously described findings including later onset of disease (median age at onset: ∼49 years) compared to recessive forms of PD of an overall excellent treatment response. Our systematic review validates previous reports showing that SNCA mutation carriers have a younger age at onset compared to LRRK2 and VPS35 (P < 0.001). SNCA mutation carriers often have additional psychiatric symptoms, and although not exclusive to only LRRK2 or VPS35 mutation carriers, LRRK2 mutation carriers have a typical form of PD, and, lastly, VPS35 mutation carriers have good response to l-dopa.
Researchers ; Professionals ; Students
http://hdl.handle.net/10993/37458
10.1002/mds.27527
FnR ; FNR11250962 > Anne Gr�newald > ProtectMove > Reduced penetrance in hereditary movement disorders: Elucidating mechanisms of endogenous disease protectionP1: Markers and Mechanisms of Reduced Penetrance in LRRK2 Mutation Carriers > 01/01/2017 > 31/12/2018 > 2016

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