Clinical and positron emission tomography of Parkinson's disease caused by LRRK2

Ann Neurol. 2005 Mar;57(3):453-6. doi: 10.1002/ana.20401.

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.

Publication types

  • Comparative Study

MeSH terms

  • Aged
  • Amino Acid Sequence
  • Animals
  • DNA Mutational Analysis / methods
  • Dihydroxyphenylalanine / analogs & derivatives*
  • Dihydroxyphenylalanine / pharmacology
  • Family Health
  • Female
  • Genetic Predisposition to Disease*
  • Genotype
  • Glycine / genetics
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Mutation*
  • Parkinson Disease / diagnostic imaging*
  • Parkinson Disease / genetics
  • Pedigree
  • Positron-Emission Tomography / methods
  • Protein Serine-Threonine Kinases / genetics*
  • Serine / genetics

Substances

  • fluorodopa F 18
  • Serine
  • Dihydroxyphenylalanine
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases
  • Glycine