Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients

Eliana Marisa Ramos, Pamela Keagle, Tammy Gillis, Patrick Lowe, Jayalakshmi S. Mysore, Ashley Lyn Leclerc, Antonia Ratti, Nicola Ticozzi, Cinzia Gellera, James F. Gusella, Vincenzo Silani, Isabel Alonso, Robert H. Brown, Marcy E. Macdonald, John E. Landers

Research output: Contribution to journalArticlepeer-review


A higher prevalence of intermediate ataxin-2 CAG repeats in amyotrophic lateral sclerosis (ALS) patients has raised the possibility that CAG expansions in other polyglutamine disease genes could contribute to ALS neurodegeneration. We sought to determine whether expansions of the CAG repeat of the HTT gene that causes Huntington's disease, are associated with ALS. We compared the HTT CAG repeat length on a total of 3144 chromosomes from 1572 sporadic ALS patients and 4007 control chromosomes, and also tested its possible effects on ALS-specific parameters, such as age and site of onset and survival rate. Our results show that the CAG repeat in the HTT gene is not a risk factor for ALS nor modifies its clinical presentation. These findings suggest that distinct neuronal degeneration processes are involved in these two different neurodegenerative disorders.

Original languageEnglish
Pages (from-to)265-269
Number of pages5
JournalAmyotrophic Lateral Sclerosis
Issue number3
Publication statusPublished - May 2012


  • Amyotrophic lateral sclerosis
  • Huntington's disease
  • Neurodegenerative disease
  • Polyglutamine expansion
  • Trinucleotide repeat

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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