Anticipation of onset age in familial Parkinson's disease without SCA gene mutations

Parkinsonism Relat Disord. 2006 Jun;12(5):309-13. doi: 10.1016/j.parkreldis.2006.01.002. Epub 2006 Apr 18.

Abstract

Assessment of a series of 279 cases with Lewy body disease revealed 14 families having a family history consistent with autosomal dominant inheritance, eight of these with dominant Parkinsonism and six with dominant dementia. Analysis of the age at onset and genetic features in these families revealed significant anticipation only in a subset of parkinsonian families, with no pathological alleles for spinocerebellar ataxias or the common alpha-synuclein or LRRK2 point mutations.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age of Onset
  • Aged
  • DNA Mutational Analysis
  • Female
  • Genetic Testing
  • Genotype
  • Humans
  • Leucine-Rich Repeat Serine-Threonine Protein Kinase-2
  • Lewy Body Disease / genetics
  • Lewy Body Disease / physiopathology
  • Male
  • Middle Aged
  • Parkinson Disease / genetics*
  • Parkinson Disease / physiopathology*
  • Penetrance
  • Predictive Value of Tests
  • Prospective Studies
  • Protein Serine-Threonine Kinases / genetics
  • Spinocerebellar Ataxias / genetics*
  • Spinocerebellar Ataxias / physiopathology*
  • Trinucleotide Repeats / genetics
  • alpha-Synuclein / genetics

Substances

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