Article
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course.
Brain : a journal of neurology - 1 Apr 2003
Squitieri Ferdinando, Gellera Cinzia, Cannella Milena, Mariotti Caterina, Cislaghi Giuliana, Rubinsztein David C, Almqvist Elisabeth W, Turner David, Bachoud-Lévi Anne-Catherine, Simpson Sheila A, Delatycki Martin, Maglione Vittorio, Hayden Michael R, Donato Stefano Di
Abstract excerpt
Huntington disease is caused by a dominantly transmitted CAG repeat expansion mutation that is believed to confer a toxic gain of function on the mutant protein. Huntington disease patients with two mutant alleles are very rare. In other poly(CAG) diseases such as the dominant ataxias, inheritance of two mutant alleles causes a phenotype more severe than in heterozygotes. In this multicentre study, we sought...
Topics
- Adolescent
- Adult
- Age of Onset
- Aged
- Cohort Studies
- Disease Progression
- Female
- Heterozygote
- Homozygote
- Humans
- Huntington Disease
- Male
- Middle Aged