Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
Hernandez DG,
Paisán-Ruíz C,
McInerney-Leo A,
Jain S,
Meyer-Lindenberg A,
Evans EW,
Berman KF,
Johnson J,
Auburger G,
Schäffer AA,
Lopez GJ,
Nussbaum RL,
Singleton AB.
Molecular Genetics Unit, National Institute on Aging, National Institutes of Health, Department of Health and Human Services, Porter Neuroscience Research Center, 9000 Rockville Pike, Bethesda, MD 20892, USA.
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-(18)F-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.
PMID: 15732108 [PubMed - indexed for MEDLINE]