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Article

Late-onset Huntington disease with intermediate CAG repeats: true or false?

Journal of neurology, neurosurgery, and psychiatry - 1 Feb 2010

Groen Justus L, de Bie Rob M A, Foncke Elisabeth M J, Roos Raymund A C, Leenders Klaus L, Tijssen Marina A J

Abstract excerpt

Huntington disease (HD) is a neurodegenerative disorder associated with an expanded CAG trinucleotide repeat length in the huntingtin gene. 'Intermediate alleles' with 27 to 35 CAG repeats generally do not cause HD but are unstable upon germ-line transmission. Insights in CAG repeat mosaicism and enhanced trinucleotide expansion in postmitotic neurons indicate that in the intermediate range, other factors than...

Topics

Age of Onset
Aged
Alleles
Brain
Chromosomes, Human, Pair 4
Genetic Testing
Humans
Huntington Disease
Male
Trinucleotide Repeat Expansion

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 20145031
DOI: 10.1136/jnnp.2008.170902

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