GBA P.T369M substitution in Parkinson disease: Polymorphism or association? A meta-analysis

Neurology: Genetics

Volumn 2, Issue 5, 2016, Pages

  Mallett, Victoria ^a   Ross, Jay P ^a,b   Alcalay, Roy N ^c   Ambalavanan, Amirthagowri ^a,b   Sidransky, Ellen ^d   Dion, Patrick A ^a,b   Rouleau, Guy A ^a,b   Gan Or, Ziv ^a,b  

^a MCGILL UNIVERSITY   (Canada)

^b MCGILL UNIVERSITY   (Canada)

^c National Institutes of Health ^*  (United States)

^d NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; METHIONINE; THREONINE;

AMINO ACID SUBSTITUTION; CONTROLLED STUDY; GBA GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC VARIATION; HUMAN; MAJOR CLINICAL STUDY; PARKINSON DISEASE; PHENOTYPE; RISK ASSESSMENT; RISK FACTOR; SHORT SURVEY;

EID: 85011276948     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/NXG.0000000000000104     Document Type: Short Survey

References (7)

1. Schapira AH. Glucocerebrosidase and Parkinson disease: recent advances. Mol Cell Neurosci 2015; 66:37-42.
2. Alcalay RN, Levy OA, Waters C.C., et al. Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations. Brain 2015; 138:2648-2658.
3. Gegg ME, Burke D, Heales S.J., et al. Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 2012; 72:455-463.
4. Gan-Or Z., Amshalom I, Kilarski L.L., et al. Differential effects of severe vs mild GBA mutations on Parkinson disease. Neurology 2015; 84:880-887.
5. Pankratz N, Beecham GW, DeStefano A.L., et al. Metaanalysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 2012; 71:370-384.
6. Lesage S, Anheim M, Condroyer C., et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Hum Mol Genet 2011; 20:202-210.
7. Sidransky E, Nalls MA, Aasly J.O., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 2009; 361:1651-1661.