Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.
case_series · Level IV
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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-(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.
Medical subject headings
- Dihydroxyphenylalanine
- Genetic Predisposition to Disease
- Mutation
- Parkinson Disease
- Protein Serine-Threonine Kinases