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Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism.
Neurosci Lett. 2006 Aug 14; 404(1-2):163-5.NL

Abstract

Alteration G2019S in the leucine-rich repeat kinase 2 gene (LRRK2) has been identified in several populations of patients with parkinsonism, including Ashkenazi Jewish subjects with Parkinson disease. Mutations in glucocerebrosidase (GBA), the enzyme deficient in Gaucher disease, are also identified at an increased frequency among Parkinson probands, including those of Ashkenazi Jewish ancestry. A Taqman Assay-by-Design SNP genotyping strategy was utilized to establish whether G2019S was found in association with GBA mutations. Among 37 subjects with parkinsonism who were heterozygous for a GBA mutation, none carried G2019S. Furthermore, G2019S was not found in 18 patients with Gaucher disease who developed parkinsonian manifestations and 11 other Gaucher probands with parkinsonism in a first degree relative. Among 45 patients with Gaucher disease without a history of parkinsonism, one G2019S carrier was found. These findings suggest that GBA and LRRK2 mutations are discrete risk factors for parkinsonism in both Ashkenazi Jewish and non-Jewish subjects.

Authors+Show Affiliations

Section on Molecular Neurogenetics, Medical Genetics Branch, NHGRI, NIH, Bethesda, MD 20892, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, N.I.H., Intramural

Language

eng

PubMed ID

16781064

Citation

Eblan, Michael J., et al. "Glucocerebrosidase Mutations Are Not Found in Association With LRRK2 G2019S in Subjects With Parkinsonism." Neuroscience Letters, vol. 404, no. 1-2, 2006, pp. 163-5.
Eblan MJ, Scholz S, Stubblefield B, et al. Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Neurosci Lett. 2006;404(1-2):163-5.
Eblan, M. J., Scholz, S., Stubblefield, B., Gutti, U., Goker-Alpan, O., Hruska, K. S., Singleton, A. B., & Sidransky, E. (2006). Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. Neuroscience Letters, 404(1-2), 163-5.
Eblan MJ, et al. Glucocerebrosidase Mutations Are Not Found in Association With LRRK2 G2019S in Subjects With Parkinsonism. Neurosci Lett. 2006 Aug 14;404(1-2):163-5. PubMed PMID: 16781064.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Glucocerebrosidase mutations are not found in association with LRRK2 G2019S in subjects with parkinsonism. AU - Eblan,Michael J, AU - Scholz,Sonja, AU - Stubblefield,Barbara, AU - Gutti,Usha, AU - Goker-Alpan,Ozlem, AU - Hruska,Kathleen S, AU - Singleton,Andrew B, AU - Sidransky,Ellen, Y1 - 2006/06/15/ PY - 2006/03/20/received PY - 2006/04/27/revised PY - 2006/05/17/accepted PY - 2006/6/20/pubmed PY - 2006/9/19/medline PY - 2006/6/20/entrez SP - 163 EP - 5 JF - Neuroscience letters JO - Neurosci Lett VL - 404 IS - 1-2 N2 - Alteration G2019S in the leucine-rich repeat kinase 2 gene (LRRK2) has been identified in several populations of patients with parkinsonism, including Ashkenazi Jewish subjects with Parkinson disease. Mutations in glucocerebrosidase (GBA), the enzyme deficient in Gaucher disease, are also identified at an increased frequency among Parkinson probands, including those of Ashkenazi Jewish ancestry. A Taqman Assay-by-Design SNP genotyping strategy was utilized to establish whether G2019S was found in association with GBA mutations. Among 37 subjects with parkinsonism who were heterozygous for a GBA mutation, none carried G2019S. Furthermore, G2019S was not found in 18 patients with Gaucher disease who developed parkinsonian manifestations and 11 other Gaucher probands with parkinsonism in a first degree relative. Among 45 patients with Gaucher disease without a history of parkinsonism, one G2019S carrier was found. These findings suggest that GBA and LRRK2 mutations are discrete risk factors for parkinsonism in both Ashkenazi Jewish and non-Jewish subjects. SN - 0304-3940 UR - https://www.unboundmedicine.com/medline/citation/16781064/Glucocerebrosidase_mutations_are_not_found_in_association_with_LRRK2_G2019S_in_subjects_with_parkinsonism_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0304-3940(06)00522-2 DB - PRIME DP - Unbound Medicine ER -