Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease by Sidransky E, Nalls M A, Aasly J O, Aharon-Peretz J, Annesi G, Barbosa E R, Bar-Shira A, Berg D, Bras J, Brice A, Chen C-M, Clark L N, Condroyer C, De Marco E V, Dürr A, Eblan M J, Fahn S, Farrer M J, Fung H-C, Gan-Or Z, Gasser T, Gershoni-Baruch R, Giladi N, Griffith A, Gurevich T, Januario C, Kropp P, Lang A E, Lee-Chen G-J, Lesage S, Marder K, Mata I F, Mirelman A, Mitsui J, Mizuta I, Nicoletti G, Oliveira C, Ottman R, Orr-Urtreger A, Pereira L V, Quattrone A, Rogaeva E, Rolfs A, Rosenbaum H, Rozenberg R, Samii A, Samaddar T, Schulte C, Sharma M, Singleton A, Spitz M, Tan E-K, Tayebi N, Toda T, Troiano A R, Tsuji S, Wittstock M, Wolfsberg T G, Wu Y-R, Zabetian C P, Zhao Y, Ziegler S G in The New England journal of medicine (2009).

[PMID: 19846850] PubMed


Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher's disease, among patients with Parkinson's disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson's disease.

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