title: Prevalence of Huntington's disease gene CAG repeat alleles in sporadic amyotrophic lateral sclerosis patients.
abstract: 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.
authors.affiliation: Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, USA.
authors.forename: Eliana Marisa
authors.initials: EM
authors.lastname: Ramos
authors.forename: Pamela
authors.initials: P
authors.lastname: Keagle
authors.forename: Tammy
authors.initials: T
authors.lastname: Gillis
authors.forename: Patrick
authors.initials: P
authors.lastname: Lowe
authors.forename: Jayalakshmi S
authors.initials: JS
authors.lastname: Mysore
authors.forename: Ashley Lyn
authors.initials: AL
authors.lastname: Leclerc
authors.forename: Antonia
authors.initials: A
authors.lastname: Ratti
authors.forename: Nicola
authors.initials: N
authors.lastname: Ticozzi
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.forename: James F
authors.initials: JF
authors.lastname: Gusella
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Silani
authors.forename: Isabel
authors.initials: I
authors.lastname: Alonso
authors.forename: Robert H
authors.initials: RH
authors.lastname: Brown
authors.forename: Marcy E
authors.initials: ME
authors.lastname: MacDonald
authors.forename: John E
authors.initials: JE
authors.lastname: Landers
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D000071058:Huntingtin Protein; D006816:Huntington Disease / Q000235:genetics*; D008875:Middle Aged; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010455:Peptides / Q000378:metabolism; D015995:Prevalence; D012307:Risk Factors; D019680:Trinucleotide Repeat Expansion; D055815:Young Adult
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein; D009419:Nerve Tissue Proteins; D010455:Peptides; C097188:polyglutamine