Clinical features of LRRK2-associated Parkinson's disease in central Norway

Ann Neurol. 2005 May;57(5):762-5. doi: 10.1002/ana.20456.

Abstract

Several pathogenic mutations in the leucine-rich repeat kinase 2 (LRRK2; PARK8) gene recently have been identified in familial and sporadic parkinsonism. We screened 435 Norwegian patients diagnosed with Parkinson's disease and 519 control subjects for the presence of 7 LRRK2 mutations. Nine patients from seven families were found to be heterozygote carriers of the LRRK2 6055G>A (G2019S) mutation. Twelve of 28 first-degree relatives also carried the mutation, but only 1 had Parkinson's disease. The clinical features included asymmetric resting tremor, bradykinesia, and rigidity with a good response to levodopa and could not be distinguished from idiopathic Parkinson's disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • Aged, 80 and over
  • Antiparkinson Agents / therapeutic use
  • Female
  • Heterozygote
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Levodopa / therapeutic use
  • Male
  • Middle Aged
  • Muscle Rigidity / physiopathology
  • Mutation / genetics
  • Mutation / physiology
  • Norway / epidemiology
  • Parkinson Disease / drug therapy
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology*
  • Pedigree
  • Protein Serine-Threonine Kinases / genetics*
  • Tremor / physiopathology

Substances

  • Antiparkinson Agents
  • Levodopa
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases