The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases

Neurosci Lett. 2005 Dec 9;389(3):137-9. doi: 10.1016/j.neulet.2005.07.044.

Abstract

Mutations in the leucine-rich kinase 2 gene (LRRK 2) encoding dardarin, on chromosome 12, are a common cause of familial and sporadic Parkinson's disease. The most common mutation, a heterozygous 6055 G>A transition (G 2019 S) accounts for approximately 3--10% of familial Parkinson's disease and 1--8% sporadic Parkinson's disease in several European-derived populations. Some families with disease caused by LRRK 2 mutations have been reported to include patients with highly variable clinical and pathological features. We screened for the most common LRRK 2 mutation in a series of patients with Parkinson's Disease, Alzheimer's disease, Progressive Supranuclear Palsy, Multiple System Atrophy and frontotemporal dementia, as well as in neurologically normal controls. The mutation was found only in Parkinson's disease patients or their relatives and not in those with other neurodegenerative disease.

Publication types

  • Clinical Trial
  • Controlled Clinical Trial

MeSH terms

  • Aged
  • DNA Mutational Analysis / methods
  • Female
  • Genetic Predisposition to Disease / epidemiology
  • Genetic Testing / methods*
  • Humans
  • Incidence
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Neurodegenerative Diseases / enzymology
  • Neurodegenerative Diseases / epidemiology
  • Neurodegenerative Diseases / genetics
  • Parkinson Disease / enzymology*
  • Parkinson Disease / epidemiology*
  • Parkinson Disease / genetics
  • Polymorphism, Genetic*
  • Protein Serine-Threonine Kinases / genetics*
  • Risk Assessment / methods*
  • Risk Factors
  • United States / epidemiology

Substances

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