Thu, 21 Aug 2008 15:46:15 BST CiteULike: Group: parkinson's disease references - library [104 articles] http://www.citeulike.org/group/5052/article/2734851 CiteULike.org en-gb Copyright © 2004-2008 citeulike.org http://www.citeulike.org/group/5052/article/2734851 <i>The Lancet, Vol. 365, No. 9457. (29 January 2005), pp. 415-416.</i><br /><br />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 A common LRRK2 mutation in idiopathic Parkinson's disease William Gilks Patrick Abou-Sleiman Sonia Gandhi Shushant Jain Andrew Singleton Andrew Lees Karen Shaw Kailash Bhatia Vincenzo Bonifati Niall Quinn John Lynch Daniel Healy Janice Holton Tamas Revesz Nicholas Wood doi:10.1016/S0140-6736(05)17830-1 The Lancet, Vol. 365, No. 9457. (29 January 2005), pp. 415-416. 2008-04-29T16:24:24-00:00 2005 The Lancet 365 9457 415 416 genetics lrrk2 parkinsons