Literature DB >> 28536875

[Genetic risk variants in Parkinson's disease and other movement disorders].

K Brockmann1, K Lohmann2.   

Abstract

Movement disorders are often genetically complex with genetic risk factors playing a major role. For example, monogenic causes of Parkinson's disease (PD) can be found in only 2-5% of patients who often have an early onset (<40 years). In the majority of patients, common genetic variants seem to contribute to the disease risk. To date, 24 genetic risk factors have been identified. For restless legs syndrome (RLS), six different risk variants have been reported but no monogenic cause is known yet. For the genetic risk factors of essential tremor and dystonia, which are less well studied, only five and two candidate variants, respectively, have been described but their roles still require independent confirmation. In this review, we provide an overview on the involved genes, their function, and discuss possible, disease mechanism-driven therapies.

Entities:  

Keywords:  Dystonia; Essential tremor; Monogenic forms; Restless legs syndrome; Risk genes

Mesh:

Substances:

Year:  2017        PMID: 28536875     DOI: 10.1007/s00115-017-0348-5

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  50 in total

1.  Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients.

Authors:  Aleksandar Rakovic; Anne Grünewald; Philip Seibler; Alfredo Ramirez; Norman Kock; Slobodanka Orolicki; Katja Lohmann; Christine Klein
Journal:  Hum Mol Genet       Date:  2010-05-27       Impact factor: 6.150

2.  Accumulation of rare variants in the arylsulfatase G (ARSG) gene in task-specific dystonia.

Authors:  Esther Nibbeling; Susen Schaake; Marina A Tijssen; Anne Weissbach; Justus L Groen; Eckart Altenmüller; Dineke S Verbeek; Katja Lohmann
Journal:  J Neurol       Date:  2015-04-01       Impact factor: 4.849

3.  Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus?

Authors:  Katja Lohmann; Alexander Schmidt; Arne Schillert; Susen Winkler; Alberto Albanese; Frank Baas; Anna Rita Bentivoglio; Friederike Borngräber; Norbert Brüggemann; Giovanni Defazio; Francesca Del Sorbo; Günther Deuschl; Mark J Edwards; Thomas Gasser; Pilar Gómez-Garre; Julia Graf; Justus L Groen; Anne Grünewald; Johann Hagenah; Claudia Hemmelmann; Hans-Christian Jabusch; Ryuji Kaji; Meike Kasten; Hideshi Kawakami; Vladimir S Kostic; Maria Liguori; Pablo Mir; Alexander Münchau; Felicia Ricchiuti; Stefan Schreiber; Katharina Siegesmund; Marina Svetel; Marina A J Tijssen; Enza Maria Valente; Ana Westenberger; Kirsten E Zeuner; Simone Zittel; Eckart Altenmüller; Andreas Ziegler; Christine Klein
Journal:  Mov Disord       Date:  2013-12-26       Impact factor: 10.338

4.  Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

Authors:  Juliane Winkelmann; Darina Czamara; Barbara Schormair; Franziska Knauf; Eva C Schulte; Claudia Trenkwalder; Yves Dauvilliers; Olli Polo; Birgit Högl; Klaus Berger; Andrea Fuhs; Nadine Gross; Karin Stiasny-Kolster; Wolfgang Oertel; Cornelius G Bachmann; Walter Paulus; Lan Xiong; Jacques Montplaisir; Guy A Rouleau; Ingo Fietze; Jana Vávrová; David Kemlink; Karel Sonka; Sona Nevsimalova; Siong-Chi Lin; Zbigniew Wszolek; Carles Vilariño-Güell; Matthew J Farrer; Viola Gschliesser; Birgit Frauscher; Tina Falkenstetter; Werner Poewe; Richard P Allen; Christopher J Earley; William G Ondo; Wei-Dong Le; Derek Spieler; Maria Kaffe; Alexander Zimprich; Johannes Kettunen; Markus Perola; Kaisa Silander; Isabelle Cournu-Rebeix; Marcella Francavilla; Claire Fontenille; Bertrand Fontaine; Pavel Vodicka; Holger Prokisch; Peter Lichtner; Paul Peppard; Juliette Faraco; Emmanuel Mignot; Christian Gieger; Thomas Illig; H-Erich Wichmann; Bertram Müller-Myhsok; Thomas Meitinger
Journal:  PLoS Genet       Date:  2011-07-14       Impact factor: 5.917

5.  Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease.

Authors:  Mike A Nalls; Nathan Pankratz; Christina M Lill; Chuong B Do; Dena G Hernandez; Mohamad Saad; Anita L DeStefano; Eleanna Kara; Jose Bras; Manu Sharma; Claudia Schulte; Margaux F Keller; Sampath Arepalli; Christopher Letson; Connor Edsall; Hreinn Stefansson; Xinmin Liu; Hannah Pliner; Joseph H Lee; Rong Cheng; M Arfan Ikram; John P A Ioannidis; Georgios M Hadjigeorgiou; Joshua C Bis; Maria Martinez; Joel S Perlmutter; Alison Goate; Karen Marder; Brian Fiske; Margaret Sutherland; Georgia Xiromerisiou; Richard H Myers; Lorraine N Clark; Kari Stefansson; John A Hardy; Peter Heutink; Honglei Chen; Nicholas W Wood; Henry Houlden; Haydeh Payami; Alexis Brice; William K Scott; Thomas Gasser; Lars Bertram; Nicholas Eriksson; Tatiana Foroud; Andrew B Singleton
Journal:  Nat Genet       Date:  2014-07-27       Impact factor: 38.330

6.  Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models.

Authors:  Alvaro Sanchez-Martinez; Michelle Beavan; Matthew E Gegg; Kai-Yin Chau; Alexander J Whitworth; Anthony H V Schapira
Journal:  Sci Rep       Date:  2016-08-19       Impact factor: 4.379

7.  Polygenic risk of Parkinson disease is correlated with disease age at onset.

Authors:  Valentina Escott-Price; Mike A Nalls; Huw R Morris; Steven Lubbe; Alexis Brice; Thomas Gasser; Peter Heutink; Nicholas W Wood; John Hardy; Andrew B Singleton; Nigel M Williams
Journal:  Ann Neurol       Date:  2015-03-13       Impact factor: 10.422

8.  Genome-wide association study reveals genetic risk underlying Parkinson's disease.

Authors:  Javier Simón-Sánchez; Claudia Schulte; Jose M Bras; Manu Sharma; J Raphael Gibbs; Daniela Berg; Coro Paisan-Ruiz; Peter Lichtner; Sonja W Scholz; Dena G Hernandez; Rejko Krüger; Monica Federoff; Christine Klein; Alison Goate; Joel Perlmutter; Michael Bonin; Michael A Nalls; Thomas Illig; Christian Gieger; Henry Houlden; Michael Steffens; Michael S Okun; Brad A Racette; Mark R Cookson; Kelly D Foote; Hubert H Fernandez; Bryan J Traynor; Stefan Schreiber; Sampath Arepalli; Ryan Zonozi; Katrina Gwinn; Marcel van der Brug; Grisel Lopez; Stephen J Chanock; Arthur Schatzkin; Yikyung Park; Albert Hollenbeck; Jianjun Gao; Xuemei Huang; Nick W Wood; Delia Lorenz; Günther Deuschl; Honglei Chen; Olaf Riess; John A Hardy; Andrew B Singleton; Thomas Gasser
Journal:  Nat Genet       Date:  2009-11-15       Impact factor: 38.330

9.  DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study.

Authors:  Joanne Trinh; Emil K Gustavsson; Carles Vilariño-Güell; Stephanie Bortnick; Jeanne Latourelle; Marna B McKenzie; Chelsea Szu Tu; Ekaterina Nosova; Jaskaran Khinda; Austen Milnerwood; Suzanne Lesage; Alexis Brice; Meriem Tazir; Jan O Aasly; Laura Parkkinen; Hazal Haytural; Tatiana Foroud; Richard H Myers; Samia Ben Sassi; Emna Hentati; Fatma Nabli; Emna Farhat; Rim Amouri; Fayçal Hentati; Matthew J Farrer
Journal:  Lancet Neurol       Date:  2016-09-28       Impact factor: 44.182

10.  Genomewide association study in cervical dystonia demonstrates possible association with sodium leak channel.

Authors:  Kin Y Mok; Susanne A Schneider; Daniah Trabzuni; Maria Stamelou; Mark Edwards; Dalia Kasperaviciute; Stuart Pickering-Brown; Monty Silverdale; John Hardy; Kailash P Bhatia
Journal:  Mov Disord       Date:  2013-11-13       Impact factor: 10.338

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