Repository logo
 

Late-onset Huntington's disease associated with CAG repeat lengths of 30 and 31.

Accepted version
Peer-reviewed

Type

Article

Change log

Authors

Holden, Simon T 
Barker, Roger A 

Abstract

Huntington’s disease (HD) is an autosomal dominant neurodegenerative condition caused by trinucleotide CAG repeat expansion in the huntingtin gene. CAG lengths of more than 35 repeats are associated with disease, whilst CAG lengths of less than 27 are considered normal. The significance of intermediate repeat lengths of 27 to 35, which occur in up to 6% of the population, is uncertain, but there is emerging evidence that some carriers of these alleles develop HD. Here we present two cases of late-onset chorea with typical features of HD, in patients with huntingtin alleles with CAG repeat lengths of 30 and 31. Whilst intermediate CAG lengths are common in healthy individuals, in the appropriate clinical context, they should be considered relevant.

Description

Keywords

Humans, Huntingtin Protein, Huntington Disease, Trinucleotide Repeat Expansion, Trinucleotide Repeats

Journal Title

J Neurol

Conference Name

Journal ISSN

0340-5354
1432-1459

Volume Title

268

Publisher

Springer Science and Business Media LLC

Rights

All rights reserved
Sponsorship
Medical Research Council (MC_PC_17230)