Literature DB >> 18829375

Glucosidase-beta variations and Lewy body disorders.

Matthew J Farrer1, Lindsey N Williams, Avi A Algom, Jennifer Kachergus, Mary M Hulihan, Owen A Ross, Alex Rajput, Spiridon Papapetropoulos, Deborah C Mash, Dennis W Dickson.   

Abstract

It has been proposed that there is an increased frequency of glucosidase-beta mutations in Lewy body disorders. Our comprehensive DNA sequencing approach found a small number of glucosidase-beta mutations in 101 neuropathologically defined Lewy body disease cases (3%) compared to 99 healthy post-mortem controls (1%); odds ratio 3.0 (95% CI: 0.3-29, p=0.3). All three affected carriers were classified as diffuse Lewy body disease (n=3/50; 6%). Our study suggests glucosidase-beta variants have a limited role in susceptibility to Lewy body disease in North America.

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Year:  2008        PMID： 18829375      PMCID： PMC2970615          DOI： 10.1016/j.parkreldis.2008.08.004

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


  14 in total

1.  Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.

Authors:  Magda Montfort; Amparo Chabás; Lluïsa Vilageliu; Daniel Grinberg
Journal:  Hum Mutat       Date:  2004-06       Impact factor: 4.878

2.  Glucocerebrosidase mutations are also found in subjects with early-onset parkinsonism from Venezuela.

Authors:  Michael J Eblan; Joann Nguyen; Shira G Ziegler; Alicia Lwin; Melissa Hanson; Marisol Gallardo; Roberto Weiser; Marisel De Lucca; Andrew Singleton; Ellen Sidransky
Journal:  Mov Disord       Date:  2006-02       Impact factor: 10.338

3.  Glucocerebrosidase mutations are an important risk factor for Lewy body disorders.

Authors:  O Goker-Alpan; B I Giasson; M J Eblan; J Nguyen; H I Hurtig; V M-Y Lee; J Q Trojanowski; E Sidransky
Journal:  Neurology       Date:  2006-06-21       Impact factor: 9.910

Review 4.  Glucocerebrosidase gene mutations in patients with type 2 Gaucher disease.

Authors:  D L Stone; N Tayebi; E Orvisky; B Stubblefield; V Madike; E Sidransky
Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

5.  Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Authors:  Nahid Tayebi; Barbara K Stubblefield; Joseph K Park; Eduard Orvisky; Jamie M Walker; Mary E LaMarca; Ellen Sidransky
Journal:  Am J Hum Genet       Date:  2003-02-13       Impact factor: 11.025

6.  Analysis of the glucocerebrosidase gene in Parkinson's disease.

Authors:  Christine Sato; Angharad Morgan; Anthony E Lang; Shabnam Salehi-Rad; Toshitaka Kawarai; Yan Meng; Peter N Ray; Lindsay A Farrer; Peter St George-Hyslop; Ekaterina Rogaeva
Journal:  Mov Disord       Date:  2005-03       Impact factor: 10.338

7.  Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson disease.

Authors:  L N Clark; B M Ross; Y Wang; H Mejia-Santana; J Harris; E D Louis; L J Cote; H Andrews; S Fahn; C Waters; B Ford; S Frucht; R Ottman; K Marder
Journal:  Neurology       Date:  2007-09-18       Impact factor: 9.910

8.  Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders.

Authors:  Ignacio F Mata; Ali Samii; Seth H Schneer; John W Roberts; Alida Griffith; Berta C Leis; Gerard D Schellenberg; Ellen Sidransky; Thomas D Bird; James B Leverenz; Debby Tsuang; Cyrus P Zabetian
Journal:  Arch Neurol       Date:  2008-03

9.  Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.

Authors:  M Toft; L Pielsticker; O A Ross; J O Aasly; M J Farrer
Journal:  Neurology       Date:  2006-02-14       Impact factor: 9.910

10.  Gaucher disease and the synucleinopathies.

Authors:  Kathleen S Hruska; Ozlem Goker-Alpan; Ellen Sidransky
Journal:  J Biomed Biotechnol       Date:  2006
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  21 in total

1.  Glucocerebrosidase mutations in diffuse Lewy body disease.

Authors:  Kenya Nishioka; Owen A Ross; Carles Vilariño-Güell; Stephanie A Cobb; Jennifer M Kachergus; David M A Mann; Julie Snowden; Anna M T Richardson; David Neary; Christopher A Robinson; Alex Rajput; Spiridon Papapetropoulos; Deborah C Mash; Rajesh Pahwa; Kelly E Lyons; Zbigniew K Wszolek; Dennis W Dickson; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2011-01       Impact factor: 4.891

Review 2.  The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders.

Authors:  Arash Velayati; W Haung Yu; Ellen Sidransky
Journal:  Curr Neurol Neurosci Rep       Date:  2010-05       Impact factor: 5.081

3.  Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

Authors:  E Sidransky; M A Nalls; J O Aasly; J Aharon-Peretz; G Annesi; E R Barbosa; A Bar-Shira; D Berg; J Bras; A Brice; C-M Chen; L N Clark; C Condroyer; E V De Marco; A Dürr; M J Eblan; S Fahn; M J Farrer; H-C Fung; Z Gan-Or; T Gasser; R Gershoni-Baruch; N Giladi; A Griffith; T Gurevich; C Januario; P Kropp; A E Lang; G-J Lee-Chen; S Lesage; K Marder; I F Mata; A Mirelman; J Mitsui; I Mizuta; G Nicoletti; C Oliveira; R Ottman; A Orr-Urtreger; L V Pereira; A Quattrone; E Rogaeva; A Rolfs; H Rosenbaum; R Rozenberg; A Samii; T Samaddar; C Schulte; M Sharma; A Singleton; M Spitz; E-K Tan; N Tayebi; T Toda; A R Troiano; S Tsuji; M Wittstock; T G Wolfsberg; Y-R Wu; C P Zabetian; Y Zhao; S G Ziegler
Journal:  N Engl J Med       Date:  2009-10-22       Impact factor: 91.245

Review 4.  Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature.

Authors:  Susanne A Schneider; Roy N Alcalay
Journal:  Mov Disord       Date:  2017-11       Impact factor: 10.338

5.  The function of α-synuclein.

Authors:  Jacob T Bendor; Todd P Logan; Robert H Edwards
Journal:  Neuron       Date:  2013-09-18       Impact factor: 17.173

Review 6.  The neuropathology of genetic Parkinson's disease.

Authors:  Markos Poulopoulos; Oren A Levy; Roy N Alcalay
Journal:  Mov Disord       Date:  2012-03-26       Impact factor: 10.338

7.  GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology.

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; Walter Kukull; Peter T Nelson; Gregory A Jicha; Janna H Neltner; Doug Galasko; Eliezer Masliah; John Q Trojanowski; Gerard D Schellenberg; Dora Yearout; Haley Huston; Allison Fritts-Penniman; Ignacio F Mata; Jia Y Wan; Karen L Edwards; Thomas J Montine; Cyrus P Zabetian
Journal:  Neurology       Date:  2012-10-03       Impact factor: 9.910

Review 8.  Genetic convergence of Parkinson's disease and lysosomal storage disorders.

Authors:  Hao Deng; Xiaofei Xiu; Joseph Jankovic
Journal:  Mol Neurobiol       Date:  2014-08-07       Impact factor: 5.590

Review 9.  The link between the GBA gene and parkinsonism.

Authors:  Ellen Sidransky; Grisel Lopez
Journal:  Lancet Neurol       Date:  2012-11       Impact factor: 44.182

10.  Glucocerebrosidase mutations are not a common risk factor for Parkinson disease in North Africa.

Authors:  Kenya Nishioka; Carles Vilariño-Güell; Stephanie A Cobb; Jennifer M Kachergus; Owen A Ross; Christian Wider; Rachel A Gibson; Faycal Hentati; Matthew J Farrer
Journal:  Neurosci Lett       Date:  2009-11-27       Impact factor: 3.046
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