Literature DB >> 26414118

Genetic susceptibility variants in parkinsonism.

Alexandra I Soto-Ortolaza1, Owen A Ross2.   

Abstract

Parkinsonism is an umbrella term for a group of disorders characterized by the clinical signs of tremor, bradykinesia, rigidity, and postural instability. On neuropathologic examination parkinsonism can display alternate protein pathologies (e.g. α-synucleinopathy or tauopathy) but the degeneration of nigral neurons is consistent. The main forms of parkinsonism are, Parkinson's disease (PD), Dementia with Lewy Bodies (DLB), Multiple System Atrophy (MSA), Progressive Supranuclear Palsy (PSP) and Corticobasal Degeneration (CBD). Genetic studies from candidate gene, to unbiased genome-wide approaches including association and next-generation sequencing have nominated a number of disease determinants. Within this review we will highlight the genetic loci that are associated with disease and discuss the implications and importance for a better understanding of the genes involved and thus the underlying pathophysiology of these disorders.
Copyright © 2015 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Corticobasal degeneration; Dementia with Lewy bodies; Genes; Multiple system atrophy; Parkinson's disease; Progressive supranuclear palsy

Mesh:

Year:  2015        PMID: 26414118      PMCID: PMC4662622          DOI: 10.1016/j.parkreldis.2015.09.011

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  30 in total

1.  MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy.

Authors:  C Vilariño-Güell; A I Soto-Ortolaza; A Rajput; D C Mash; S Papapetropoulos; R Pahwa; K E Lyons; R J Uitti; Z K Wszolek; D W Dickson; M J Farrer; O A Ross
Journal:  Neurology       Date:  2011-02-15       Impact factor: 9.910

2.  GWAS risk factors in Parkinson's disease: LRRK2 coding variation and genetic interaction with PARK16.

Authors:  Alexandra I Soto-Ortolaza; Michael G Heckman; Catherine Labbé; Daniel J Serie; Andreas Puschmann; Sruti Rayaprolu; Audrey Strongosky; Magdalena Boczarska-Jedynak; Grzegorz Opala; Anna Krygowska-Wajs; Maria Barcikowska; Krzysztof Czyzewski; Timothy Lynch; Ryan J Uitti; Zbigniew K Wszolek; Owen A Ross
Journal:  Am J Neurodegener Dis       Date:  2013-11-29

Review 3.  Advances in the genetics of Parkinson disease.

Authors:  Joanne Trinh; Matt Farrer
Journal:  Nat Rev Neurol       Date:  2013-07-16       Impact factor: 42.937

4.  Genetic evidence for the involvement of tau in progressive supranuclear palsy.

Authors:  C Conrad; A Andreadis; J Q Trojanowski; D W Dickson; D Kang; X Chen; W Wiederholt; L Hansen; E Masliah; L J Thal; R Katzman; Y Xia; T Saitoh
Journal:  Ann Neurol       Date:  1997-02       Impact factor: 10.422

5.  Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.

Authors:  Günter U Höglinger; Nadine M Melhem; Dennis W Dickson; Patrick M A Sleiman; Li-San Wang; Lambertus Klei; Rosa Rademakers; Rohan de Silva; Irene Litvan; David E Riley; John C van Swieten; Peter Heutink; Zbigniew K Wszolek; Ryan J Uitti; Jana Vandrovcova; Howard I Hurtig; Rachel G Gross; Walter Maetzler; Stefano Goldwurm; Eduardo Tolosa; Barbara Borroni; Pau Pastor; Laura B Cantwell; Mi Ryung Han; Allissa Dillman; Marcel P van der Brug; J Raphael Gibbs; Mark R Cookson; Dena G Hernandez; Andrew B Singleton; Matthew J Farrer; Chang-En Yu; Lawrence I Golbe; Tamas Revesz; John Hardy; Andrew J Lees; Bernie Devlin; Hakon Hakonarson; Ulrich Müller; Gerard D Schellenberg
Journal:  Nat Genet       Date:  2011-06-19       Impact factor: 38.330

6.  Protective effect of LRRK2 p.R1398H on risk of Parkinson's disease is independent of MAPT and SNCA variants.

Authors:  Michael G Heckman; Alexis Elbaz; Alexandra I Soto-Ortolaza; Daniel J Serie; Jan O Aasly; Grazia Annesi; Georg Auburger; Justin A Bacon; Magdalena Boczarska-Jedynak; Maria Bozi; Laura Brighina; Marie-Christine Chartier-Harlin; Efthimios Dardiotis; Alain Destée; Carlo Ferrarese; Alessandro Ferraris; Brian Fiske; Suzana Gispert; Georgios M Hadjigeorgiou; Nobutaka Hattori; John P A Ioannidis; Barbara Jasinska-Myga; Beom S Jeon; Yun Joong Kim; Christine Klein; Rejko Kruger; Elli Kyratzi; Chin-Hsien Lin; Katja Lohmann; Marie-Anne Loriot; Timothy Lynch; George D Mellick; Eugénie Mutez; Grzegorz Opala; Sung Sup Park; Simona Petrucci; Aldo Quattrone; Manu Sharma; Peter A Silburn; Young Ho Sohn; Leonidas Stefanis; Vera Tadic; Hiroyuki Tomiyama; Ryan J Uitti; Enza Maria Valente; Demetrios K Vassilatis; Carles Vilariño-Güell; Linda R White; Karin Wirdefeldt; Zbigniew K Wszolek; Ruey-Meei Wu; Georgia Xiromerisiou; Demetrius M Maraganore; Matthew J Farrer; Owen A Ross
Journal:  Neurobiol Aging       Date:  2013-08-17       Impact factor: 4.673

7.  APOE ε4 increases risk for dementia in pure synucleinopathies.

Authors:  Debby Tsuang; James B Leverenz; Oscar L Lopez; Ronald L Hamilton; David A Bennett; Julie A Schneider; Aron S Buchman; Eric B Larson; Paul K Crane; Jeffrey A Kaye; Patricia Kramer; Randy Woltjer; John Q Trojanowski; Daniel Weintraub; Alice S Chen-Plotkin; David J Irwin; Jacqueline Rick; Gerard D Schellenberg; G Stennis Watson; Walter Kukull; Peter T Nelson; Gregory A Jicha; Janna H Neltner; Doug Galasko; Eliezer Masliah; Joseph F Quinn; Kathryn A Chung; Dora Yearout; Ignacio F Mata; Jia Y Wan; Karen L Edwards; Thomas J Montine; Cyrus P Zabetian
Journal:  JAMA Neurol       Date:  2013-02       Impact factor: 18.302

Review 8.  Update on novel familial forms of Parkinson's disease and multiple system atrophy.

Authors:  Shinsuke Fujioka; Kotaro Ogaki; Pawel M Tacik; Ryan J Uitti; Owen A Ross; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2014-01       Impact factor: 4.891

Review 9.  Update on progressive supranuclear palsy.

Authors:  Irene Litvan
Journal:  Curr Neurol Neurosci Rep       Date:  2004-07       Impact factor: 5.081

10.  Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies.

Authors:  Jose Bras; Rita Guerreiro; Lee Darwent; Laura Parkkinen; Olaf Ansorge; Valentina Escott-Price; Dena G Hernandez; Michael A Nalls; Lorraine N Clark; Lawrence S Honig; Karen Marder; Wiesje M Van Der Flier; Afina Lemstra; Philip Scheltens; Ekaterina Rogaeva; Peter St George-Hyslop; Elisabet Londos; Henrik Zetterberg; Sara Ortega-Cubero; Pau Pastor; Tanis J Ferman; Neill R Graff-Radford; Owen A Ross; Imelda Barber; Anne Braae; Kristelle Brown; Kevin Morgan; Walter Maetzler; Daniela Berg; Claire Troakes; Safa Al-Sarraj; Tammaryn Lashley; Yaroslau Compta; Tamas Revesz; Andrew Lees; Nigel Cairns; Glenda M Halliday; David Mann; Stuart Pickering-Brown; Dennis W Dickson; Andrew Singleton; John Hardy
Journal:  Hum Mol Genet       Date:  2014-06-27       Impact factor: 6.150

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  8 in total

1.  Genetic Analysis of FBXO2, FBXO6, FBXO12, and FBXO41 Variants in Han Chinese Patients with Sporadic Parkinson's Disease.

Authors:  Lamei Yuan; Zhi Song; Xiong Deng; Zhijian Yang; Yan Yang; Yi Guo; Hongwei Lu; Hao Deng
Journal:  Neurosci Bull       Date:  2017-03-24       Impact factor: 5.203

2.  Parkinson's disease susceptibility variants and severity of Lewy body pathology.

Authors:  Michael G Heckman; Koji Kasanuki; Nancy N Diehl; Shunsuke Koga; Alexandra Soto; Melissa E Murray; Dennis W Dickson; Owen A Ross
Journal:  Parkinsonism Relat Disord       Date:  2017-09-11       Impact factor: 4.891

3.  LRRK2 variation and dementia with Lewy bodies.

Authors:  Michael G Heckman; Alexandra I Soto-Ortolaza; Monica Y Sanchez Contreras; Melissa E Murray; Otto Pedraza; Nancy N Diehl; Ronald Walton; Catherine Labbé; Oswaldo Lorenzo-Betancor; Ryan J Uitti; Jay van Gerpen; Nilüfer Ertekin-Taner; Glenn E Smith; Kejal Kantarci; Rodolfo Savica; David T Jones; Jonathan Graff-Radford; David S Knopman; Val J Lowe; Clifford R Jack; Ronald C Petersen; Joseph E Parisi; Rosa Rademakers; Zbigniew K Wszolek; Neill R Graff-Radford; Tanis J Ferman; Dennis W Dickson; Bradley F Boeve; Owen A Ross
Journal:  Parkinsonism Relat Disord       Date:  2016-07-29       Impact factor: 4.891

Review 4.  Neuronal network disintegration: common pathways linking neurodegenerative diseases.

Authors:  Rebekah M Ahmed; Emma M Devenney; Muireann Irish; Arne Ittner; Sharon Naismith; Lars M Ittner; Jonathan D Rohrer; Glenda M Halliday; Andrew Eisen; John R Hodges; Matthew C Kiernan
Journal:  J Neurol Neurosurg Psychiatry       Date:  2016-05-12       Impact factor: 10.154

Review 5.  Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?

Authors:  Sara Redenšek; Maja Trošt; Vita Dolžan
Journal:  Front Aging Neurosci       Date:  2017-02-10       Impact factor: 5.750

Review 6.  Targeting energy metabolism via the mitochondrial pyruvate carrier as a novel approach to attenuate neurodegeneration.

Authors:  Emmanuel Quansah; Wouter Peelaerts; J William Langston; David K Simon; Jerry Colca; Patrik Brundin
Journal:  Mol Neurodegener       Date:  2018-05-24       Impact factor: 14.195

7.  APOE ε4 is associated with severity of Lewy body pathology independent of Alzheimer pathology.

Authors:  Dennis W Dickson; Michael G Heckman; Melissa E Murray; Alexandra I Soto; Ronald L Walton; Nancy N Diehl; Jay A van Gerpen; Ryan J Uitti; Zbigniew K Wszolek; Nilüfer Ertekin-Taner; David S Knopman; Ronald C Petersen; Neill R Graff-Radford; Bradley F Boeve; Guojun Bu; Tanis J Ferman; Owen A Ross
Journal:  Neurology       Date:  2018-08-24       Impact factor: 11.800

8.  Transcriptome Analysis of Induced Pluripotent Stem Cells and Neuronal Progenitor Cells, Derived from Discordant Monozygotic Twins with Parkinson's Disease.

Authors:  Ivan N Vlasov; Anelya Kh Alieva; Ekaterina V Novosadova; Elena L Arsenyeva; Anna V Rosinskaya; Suzanna A Partevian; Igor A Grivennikov; Maria I Shadrina
Journal:  Cells       Date:  2021-12-09       Impact factor: 6.600

  8 in total

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