Literature DB >> 16476943

Glucocerebrosidase gene mutations and Parkinson disease in the Norwegian population.

M Toft1, L Pielsticker, O A Ross, J O Aasly, M J Farrer.   

Abstract

An association between mutations in the glucocerebrosidase (GBA) gene and Parkinson disease (PD) was recently reported in Ashkenazi Jews. The authors screened a series of 311 Norwegian patients with PD and 474 controls for 2 common functional mutations of the GBA protein, N370S and L444P. Seven patients (2.3%) and 8 controls (1.7%) carried a mutant GBA allele (p = 0.58). This study does not indicate increased susceptibility to PD in GBA mutations carriers in Norway.

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Year:  2006        PMID: 16476943     DOI: 10.1212/01.wnl.0000196492.80676.7c

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  34 in total

Review 1.  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

Review 2.  The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism.

Authors:  John DePaolo; Ozlem Goker-Alpan; Ted Samaddar; Grisel Lopez; Ellen Sidransky
Journal:  Mov Disord       Date:  2009-08-15       Impact factor: 10.338

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

4.  The risk of Parkinson's disease in type 1 Gaucher disease.

Authors:  Gilberto Bultron; Katherine Kacena; Daniel Pearson; Michael Boxer; Ruhua Yang; Swati Sathe; Gregory Pastores; Pramod K Mistry
Journal:  J Inherit Metab Dis       Date:  2010-02-23       Impact factor: 4.982

Review 5.  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

6.  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

7.  Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onset.

Authors:  W C Nichols; N Pankratz; D K Marek; M W Pauciulo; V E Elsaesser; C A Halter; A Rudolph; J Wojcieszek; R F Pfeiffer; T Foroud
Journal:  Neurology       Date:  2008-11-05       Impact factor: 9.910

8.  Glucosidase-beta variations and Lewy body disorders.

Authors:  Matthew J Farrer; Lindsey N Williams; Avi A Algom; Jennifer Kachergus; Mary M Hulihan; Owen A Ross; Alex Rajput; Spiridon Papapetropoulos; Deborah C Mash; Dennis W Dickson
Journal:  Parkinsonism Relat Disord       Date:  2008-10-01       Impact factor: 4.891

9.  Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.

Authors:  Juliane Neumann; Jose Bras; Emma Deas; Sean S O'Sullivan; Laura Parkkinen; Robin H Lachmann; Abi Li; Janice Holton; Rita Guerreiro; Reema Paudel; Badmavady Segarane; Andrew Singleton; Andrew Lees; John Hardy; Henry Houlden; Tamas Revesz; Nicholas W Wood
Journal:  Brain       Date:  2009-03-13       Impact factor: 13.501

Review 10.  The link between the GBA gene and parkinsonism.

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

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