Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion

Neurobiol Aging. 2012 Aug;33(8):1850.e13-6. doi: 10.1016/j.neurobiolaging.2012.02.019. Epub 2012 Apr 6.

Abstract

Frontotemporal dementia (FTD) as an important clinical entity was rediscovered in Lund and Manchester in the early 1990s. Here we show that the large Lund pedigree with behavioral variant of frontotemporal dementia previously described with this disorder has an expansion in the recently described C9ORF72 locus on chromosome 9.

Publication types

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

MeSH terms

  • C9orf72 Protein
  • Frontotemporal Lobar Degeneration / epidemiology*
  • Frontotemporal Lobar Degeneration / genetics*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Predisposition to Disease / genetics*
  • Genetic Variation / genetics
  • Humans
  • Pedigree
  • Polymorphism, Single Nucleotide / genetics*
  • Prevalence
  • Proteins / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Risk Factors
  • Sweden / epidemiology

Substances

  • C9orf72 Protein
  • C9orf72 protein, human
  • Genetic Markers
  • Proteins