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.
|Titolo:||Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients|
|Parole Chiave:||Huntington's disease; amyotrophic lateral sclerosis; trinucleotide repeat; neurodegenerative disease; polyglutamine expansion|
|Settore Scientifico Disciplinare:||Settore MED/26 - Neurologia|
Settore BIO/18 - Genetica
|Data di pubblicazione:||2012|
|Digital Object Identifier (DOI):||10.3109/17482968.2011.653573|
|Appare nelle tipologie:||01 - Articolo su periodico|