| | |  | | | | Record from Web of Science® | | | | | | |
| Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease |
|
|
| Author(s): Nichols WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels VE, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T |
| Source: LANCET Volume: 365 Issue: 9457 Pages: 410-412 Published: JAN-FEB 2005 |
| Times Cited: 193 References: 7 |
| Abstract: Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene cause some forms of autosomal dominant Parkinson's disease. We measured the frequency of a novel mutation (Gly2019Ser) in familial Parkinson's disease by screening genomic DNA of patients and controls. Of 767 affected individuals from 358 multiplex families, 35 (5%) individuals were either heterozygous (34) or homozygous (one) for the mutation, and had typical clinical findings of idiopathic Parkinson's disease. Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease. |
| Document Type: Article |
| Language: English |
| Reprint Address: Nichols, WC (reprint author), Cincinnati Childrens Hosp Med Ctr, Div Human Genet, 3333 Burnet Ave,1469 TCHRF, Cincinnati, OH 45229 USA |
Addresses:
1. Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA
2. Indiana Univ, Med Ctr, Dept Med & Mol Genet, Indianapolis, IN USA
3. NIA, Mol Genet Unit, NIH, Bethesda, MD 20892 USA
4. CSIC, Dept Genom & Proteom, Inst Biomed Valencia, Unitat Genet Mol, Valencia, Spain
5. Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
6. Univ Rochester, Dept Neurol, Rochester, NY USA
7. Univ Calif, Dept Neurosci, La Jolla, CA USA
8. Vet Affairs San Diego Healthcare Syst, San Diego, CA USA |
| Publisher: LANCET LTD, 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND |
| Subject Category: Medicine, General & Internal |
| IDS Number: 891WE |
| ISSN: 0140-6736 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |