Huntington's disease: a synaptopathy?
Författare
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.
Publiceringsår
2003
Språk
Engelska
Sidor
414-420
Publikation/Tidskrift/Serie
Trends in Molecular Medicine
Volym
9
Issue
10
Länkar
Dokumenttyp
Artikel i tidskrift
Förlag
Elsevier
Ämne
- Cell and Molecular Biology
Status
Published
Forskningsgrupp
- Neural Plasticity and Repair
ISBN/ISSN/Övrigt
- ISSN: 1471-4914