The University of Southampton
University of Southampton Institutional Repository

The molecular biology of Huntington's disease

Ho, L.W., Carmichael, J., Swartz, J., Wyttenbach, A., Rankin, J. and Rubinsztein, D.C. (2001) The molecular biology of Huntington's disease Psychological Medicine, 31, (1), pp. 3-14.

Record type: Article


Background. Huntington's disease (HD) is a fatal neurodegenerative disorder with an autosomal dominant mode of inheritance. It leads to progressive dementia, psychiatric symptoms and an incapacitating choreiform movement disorder, culminating in premature death. HD is caused by an increased CAG repeat number in a gene coding for a protein with unknown function, called huntingtin. The trinucleotide CAG codes for the amino acid glutamine and the expanded CAG repeats are translated into a series of uninterrupted glutamine residues (a polyglutamine tract).
Methods. This review describes the epidemiology, clinical symptomatology, neuropathological features and genetics of HD. The main aim is to examine important findings from animal and cellular models and evaluate how they have enriched our understanding of the pathogenesis of HD and other diseases caused by expanded polyglutamine tracts.
Results. Selective death of striatal and cortical neurons occurs. It is likely that the HD mutation confers a deleterious gain of function on the protein. Neuronal intranuclear inclusions containing huntingtin and ubiquitin develop in patients and transgenic mouse models of HD. Other proposed mechanisms contributing to neuropathology include excitotoxicity, oxidative stress, impaired energy metabolism, abnormal protein interactions and apoptosis.
Conclusions. Although many interesting findings have accumulated from studies of HD and other polyglutamine diseases, there remain many unresolved issues pertaining to the exact roles of intranuclear inclusions and protein aggregates, the mechanisms of selective neuronal death and delayed onset of illness. Further knowledge in these areas will inspire the development of novel therapeutic strategies.

Full text not available from this repository.

More information

Published date: 1 January 2001


Local EPrints ID: 56354
ISSN: 0033-2917
PURE UUID: df9f9395-81d3-45a2-b455-5e2fffed69c4

Catalogue record

Date deposited: 08 Aug 2008
Last modified: 17 Jul 2017 14:31

Export record


Author: L.W. Ho
Author: J. Carmichael
Author: J. Swartz
Author: A. Wyttenbach
Author: J. Rankin
Author: D.C. Rubinsztein

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton:

ePrints Soton supports OAI 2.0 with a base URL of

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.