A common LRRK2 mutation in idiopathic Parkinson's disease

@article{citeulike:2734851, abstract = {Summary Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510G-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019Ser), in idiopathic Parkinson's disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1·6\%) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson's disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease. Published online January 18, 2005 http://image.thelancet.com/extras/04let12032web.pdf}, author = {Gilks, William P. and Abou-Sleiman, Patrick M. and Gandhi, Sonia and Jain, Shushant and Singleton, Andrew and Lees, Andrew J. and Shaw, Karen and Bhatia, Kailash P. and Bonifati, Vincenzo and Quinn, Niall P. and Lynch, John and Healy, Daniel G. and Holton, Janice L. and Revesz, Tamas and Wood, Nicholas W. }, citeulike-article-id = {2734851}, doi = {10.1016/S0140-6736(05)17830-1}, journal = {The Lancet}, keywords = {genetics, lrrk2, parkinsons}, month = {January}, number = {9457}, pages = {415--416}, posted-at = {2008-04-29 17:24:43}, priority = {2}, title = {A common LRRK2 mutation in idiopathic Parkinson's disease}, url = {http://dx.doi.org/10.1016/S0140-6736(05)17830-1}, volume = {365}, year = {2005} }

TY - JOUR ID - citeulike:2734851 L3 - citeulike-article-id:2734851 TI - A common LRRK2 mutation in idiopathic Parkinson's disease JF - The Lancet VL - 365 IS - 9457 SP - 415 EP - 416 N2 - Summary Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene have been shown to cause autosomal dominant Parkinson's disease. Few mutations in this gene have been identified. We investigated the frequency of a common heterozygous mutation, 2877510G-->A, which produces a glycine to serine aminoacid substitution at codon 2019 (Gly2019Ser), in idiopathic Parkinson's disease. We assessed 482 patients with the disorder, of whom 263 had pathologically confirmed disease, by direct sequencing for mutations in exon 41 of LRRK2. The mutation was present in eight (1·6%) patients. We have shown that a common single Mendelian mutation is implicated in sporadic Parkinson's disease. We suggest that testing for this mutation will be important in the management and genetic counselling of patients with Parkinson's disease. Published online January 18, 2005 http://image.thelancet.com/extras/04let12032web.pdf KW - genetics KW - lrrk2 KW - parkinsons AU - Gilks, William AU - Abou-Sleiman, Patrick AU - Gandhi, Sonia AU - Jain, Shushant AU - Singleton, Andrew AU - Lees, Andrew AU - Shaw, Karen AU - Bhatia, Kailash AU - Bonifati, Vincenzo AU - Quinn, Niall AU - Lynch, John AU - Healy, Daniel AU - Holton, Janice AU - Revesz, Tamas AU - Wood, Nicholas PY - 2005/01/29/ UR - http://dx.doi.org/10.1016/S0140-6736(05)17830-1 ER -