| | |  | | | | Record from Web of Science® | | | | | | |
| Clinical and positron emission tomography of Parkinson's disease caused by LRRK2 |
|
|
| Author(s): Hernandez DG, Paisan-Ruiz C, McInerney-Leo A, Jain S, Meyer-Lindenberg A, Evans EW, Berman KF, Johnson J, Auburger G, Schaffer AA, Lopez GJ, Nussbaum RL, Singleton AB |
| Source: ANNALS OF NEUROLOGY Volume: 57 Issue: 3 Pages: 453-456 Published: MAR 2005 |
| Times Cited: 59 References: 9 |
| Abstract: We have recently identified mutations in a gene leucine-rich repeat kinase-2 (LRRK2), which cause autosomal dominant Parkinson's disease. Here, we describe two families with autosomal dominant Parkinson's disease caused by a LRRK2 G2019S mutation. We present here a clinical description of patients, including 6-F-18-fluoro-L-dopa positron emission tomography and discuss the potential implications of this mutation, which alters a conserved residue in a domain required for kinase activation. |
| Document Type: Article |
| Language: English |
| Reprint Address: Singleton, AB (reprint author), NIA, Neurogenet Lab, NIH, Mol Genet Unit,Dept Hlth & Human Serv,Porter Neur, Bldg 10,Room 6C103,MSC 1589,9000 Rockville Pike, Bethesda, MD 20892 USA |
Addresses:
1. NIA, Neurogenet Lab, NIH, Mol Genet Unit,Dept Hlth & Human Serv,Porter Neur, Bethesda, MD 20892 USA
2. CSIC, Unitat Genet Mol, Dept Genomica & Prot, Inst Biomed Valencia, Valencia, Spain
3. NHGRI, Genet Dis Res Branch, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA
4. Reta Lila Weston Inst Neurol Sci, London, England
5. Inst Neurol, Dept Mol Neurosci, London WC1N 3BG, England
6. NIMH, Unit Integrat Neuroimaging, Genes Cognit & Psychosis Program, NIH, Bethesda, MD 20892 USA
7. Univ Frankfurt, Mol Genet Sect, Neurol Clin, D-6000 Frankfurt, Germany
8. NIH, Natl Ctr Biotechnol Informat, Dept Hlth & Human Serv, Bethesda, MD 20892 USA |
| Publisher: WILEY-LISS, DIV JOHN WILEY & SONS INC, 111 RIVER ST, HOBOKEN, NJ 07030 USA |
| Subject Category: Clinical Neurology; Neurosciences |
| IDS Number: 903CK |
| ISSN: 0364-5134 |
| DOI: 10.1002/ana.20401 |
|
| | | | | | | | | Record from Web of Science® | | | | | | | | | |