Analysis of optineurin in frontotemporal lobar degeneration

Neurobiol Aging. 2012 Feb;33(2):425.e1-2. doi: 10.1016/j.neurobiolaging.2010.10.002. Epub 2010 Nov 12.

Abstract

Frontotemporal lobar degeneration (FTLD) can occur jointly with amyotrophic lateral sclerosis (ALS), and these 2 conditions share a genetic risk factor on chromosome 9. It has been reported that mutations in optineurin (OPTN) can cause ALS. Therefore, we sequenced OPTN in 371 FTLD cases but no mutations were detected, suggesting changes in OPTN do not cause FTLD.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Cell Cycle Proteins
  • Female
  • Frontotemporal Lobar Degeneration / epidemiology*
  • Frontotemporal Lobar Degeneration / genetics*
  • Genetic Predisposition to Disease / epidemiology*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Membrane Transport Proteins
  • Polymorphism, Single Nucleotide / genetics*
  • Prevalence
  • Risk Assessment
  • Risk Factors
  • Tissue Distribution
  • Transcription Factor TFIIIA / genetics*
  • United Kingdom / epidemiology

Substances

  • Cell Cycle Proteins
  • Membrane Transport Proteins
  • OPTN protein, human
  • Transcription Factor TFIIIA