LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation

Neurobiol Aging. 2010 Apr;31(4):721-2. doi: 10.1016/j.neurobiolaging.2008.05.030. Epub 2008 Jul 21.

Abstract

Here we report the relationship between age at onset, clinical course and genotype in a family with combined LRRK2 G2019S and Parkin exon 2 deletions. In the combined mutation carriers the age at onset and clinical course was highly variable and not always younger than in the carriers of LRRK2 G2019S mutations alone.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age of Onset
  • Aged
  • DNA Mutational Analysis
  • Epistasis, Genetic / genetics
  • Exons / genetics
  • Female
  • Gene Dosage / genetics
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Genotype
  • Heterozygote
  • Humans
  • Inheritance Patterns / genetics
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Parkinsonian Disorders / genetics*
  • Parkinsonian Disorders / physiopathology
  • Phenotype
  • Protein Serine-Threonine Kinases / genetics*
  • Ubiquitin-Protein Ligases / genetics*
  • Young Adult

Substances

  • Genetic Markers
  • Ubiquitin-Protein Ligases
  • parkin protein
  • LRRK2 protein, human
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Protein Serine-Threonine Kinases