No evidence for tau duplications in frontal temporal dementia families showing genetic linkage to the tau locus in which tau mutations have not been found

Neurosci Lett. 2004 Jun 10;363(2):99-101. doi: 10.1016/j.neulet.2004.03.070.

Abstract

Given the remarkable similarities between the genetics of tau diseases and the genetics of alpha-synuclein diseases, and given the fact that we have recently found a triplication of the alpha-synuclein locus in a family in which we had shown linkage to the alpha-synuclein locus, we determined to test whether some of the several families with autosomal dominant frontal temporal dementia which show genetic linkage to the tau locus but in which tau mutations have not been found could be caused by similar structural mutations. We did not find any such mutations.

MeSH terms

  • Chromosome Mapping
  • Chromosomes, Human, Pair 17 / genetics*
  • DNA Mutational Analysis
  • Dementia / genetics*
  • Exons / genetics
  • Female
  • Gene Dosage
  • Genes, Dominant
  • Genetic Linkage / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Testing
  • Humans
  • Male
  • Mutation / genetics*
  • Nerve Tissue Proteins / genetics
  • Nerve Tissue Proteins / metabolism
  • Synucleins
  • Trinucleotide Repeat Expansion / genetics
  • alpha-Synuclein
  • tau Proteins / genetics*

Substances

  • Nerve Tissue Proteins
  • SNCA protein, human
  • Synucleins
  • alpha-Synuclein
  • tau Proteins