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| Common LRRK2 mutation in idiopathic Parkinson's disease |
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| Author(s): Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW |
| Source: LANCET Volume: 365 Issue: 9457 Pages: 415-416 Published: JAN-FEB 2005 |
| Times Cited: 250 References: 5 |
| Abstract: 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. |
| Document Type: Article |
| Language: English |
| Reprint Address: Wood, NW (reprint author), Inst Neurol, Dept Mol Neurosci, Queen Sq, London WC1N 3BG, England |
Addresses:
1. Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
2. Inst Neurol, Dept Motor Neurosci, London WC1N 3BG, England
3. UCL Natl Hosp Neurol & Neurosurg, London WC1N 3BG, England
4. NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA
5. Erasmus Univ, Dept Clin Genet, NL-3000 DR Rotterdam, Netherlands
6. Reta Lila Weston Inst Neurol Studies, London, England |
| Publisher: LANCET LTD, 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND |
| Subject Category: Medicine, General & Internal |
| IDS Number: 891WE |
| ISSN: 0140-6736 |
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