The browser you are using is not supported by this website. All versions of Internet Explorer are no longer supported, either by us or Microsoft (read more here: https://www.microsoft.com/en-us/microsoft-365/windows/end-of-ie-support).

Please use a modern browser to fully experience our website, such as the newest versions of Edge, Chrome, Firefox or Safari etc.

Huntington's disease: a synaptopathy?

På svenska

Author

Summary, in English

Huntington's disease (HD) is caused by a polyglutamine expansion in the protein huntingtin. In its terminal stage, HD is characterized by widespread neuronal death in the neocortex and the striatum. Classically, this neuronal death has been thought to underlie most of the symptoms of the disease. Accumulating evidence suggests, however, that cellular dysfunction is important in the pathogenesis of HD. We propose that specific impairment of the exocytosis and endocytosis machinery contributes to the development of HD. We also suggest that abnormal synaptic transmission underlies the early symptoms of HD and can contribute to the triggering of cell death in later stages of the disease.

Publishing year

2003

Language

English

Pages

414-420

Publication/Series

Trends in Molecular Medicine

Volume

9

Issue

10

Document type

Journal article

Publisher

Elsevier

Topic

  • Cell and Molecular Biology

Status

Published

Research group

  • Neural Plasticity and Repair

ISBN/ISSN/Other

  • ISSN: 1471-4914