Huntington's disease: a synaptopathy?

JY Li, M Plomann, P Brundin - Trends in molecular medicine, 2003 - cell.com
JY Li, M Plomann, P Brundin
Trends in molecular medicine, 2003cell.com
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 …
Abstract
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.
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