LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. Export

@article{citeulike:4626911, abstract = {GBA and LRRK2 mutations increase susceptibility to Parkinson disease (PD), which is characterized by various disabling symptoms. An extended cohort of 600 Ashkenazi PD patients was screened for the LRRK2 G2019S and for eight GBA mutations. Reported initial symptoms were compared between three genotypic groups of patients: carriers of GBA mutations, carriers of LRRK2 G2019S mutation, and non-carriers. More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). These results suggest distinct effects of LRRK2 or GBA mutations on the initial symptoms of PD.}, author = {Gan-Or, Z. and Bar-Shira, A. and Mirelman, A. and Gurevich, T. and Kedmi, M. and Giladi, N. and Orr-Urtreger, A.}, citeulike-article-id = {4626911}, citeulike-linkout-0 = {http://dx.doi.org/10.1007/s10048-009-0198-9}, citeulike-linkout-1 = {http://view.ncbi.nlm.nih.gov/pubmed/19458969}, citeulike-linkout-2 = {http://www.hubmed.org/display.cgi?uids=19458969}, citeulike-linkout-3 = {http://www.springerlink.com/content/8u2720347712504j}, day = {21}, doi = {10.1007/s10048-009-0198-9}, issn = {1364-6753}, journal = {Neurogenetics}, keywords = {gba, genetics, lrrk2, pd}, month = {May}, posted-at = {2009-11-07 23:22:54}, priority = {2}, title = {LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease.}, url = {http://dx.doi.org/10.1007/s10048-009-0198-9}, year = {2009} }

TY - JOUR ID - citeulike:4626911 L3 - citeulike-article-id:4626911 N2 - GBA and LRRK2 mutations increase susceptibility to Parkinson disease (PD), which is characterized by various disabling symptoms. An extended cohort of 600 Ashkenazi PD patients was screened for the LRRK2 G2019S and for eight GBA mutations. Reported initial symptoms were compared between three genotypic groups of patients: carriers of GBA mutations, carriers of LRRK2 G2019S mutation, and non-carriers. More LRRK2 G2019S carriers reported muscle stiffness (rigidity, p = 0.007) and balance disturbances (p = 0.008), while more GBA mutation carriers reported slowness (bradykinesia, p = 0.021). These results suggest distinct effects of LRRK2 or GBA mutations on the initial symptoms of PD. JF - Neurogenetics SN - 1364-6753 TI - LRRK2 and GBA mutations differentially affect the initial presentation of Parkinson disease. KW - gba KW - genetics KW - lrrk2 KW - pd AU - Gan-Or, Z AU - Bar-Shira, A AU - Mirelman, A AU - Gurevich, T AU - Kedmi, M AU - Giladi, N AU - Orr-Urtreger, A PY - 2009/05/21/ UR - http://dx.doi.org/10.1007/s10048-009-0198-9 ER -