Analysis of the hexanucleotide repeat in C9ORF72 in Alzheimer's disease

Neurobiol Aging. 2012 Aug;33(8):1846.e5-6. doi: 10.1016/j.neurobiolaging.2012.01.109. Epub 2012 Mar 10.


Frontotemporal lobar degeneration (FTLD) is a highly familial neurodegenerative disease. It has recently been shown that the most common genetic cause of FTLD and amyotrophic lateral sclerosis (ALS) is a hexanucleotide repeat expansion in C9ORF72. To investigate whether this expansion was specific to the FTLD/ALS disease spectrum, we genotyped the hexanucleotide repeat region of C9ORF72 in a large cohort of patients with Alzheimer's disease (AD). A normal range of repeats was found in all cases. We conclude that the hexanucleotide repeat expansion is specific to the FTLD/ALS disease spectrum.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alzheimer Disease / epidemiology
  • Alzheimer Disease / genetics*
  • C9orf72 Protein
  • Comorbidity
  • Female
  • Frontotemporal Lobar Degeneration / epidemiology
  • Frontotemporal Lobar Degeneration / genetics*
  • Genetic Markers / genetics
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Male
  • Middle Aged
  • Nucleotides / genetics*
  • Prevalence
  • Proteins / genetics*
  • Repetitive Sequences, Nucleic Acid / genetics*
  • Risk Factors
  • United Kingdom / epidemiology


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