The role for alterations in neuronal activity in the pathogenesis of polyglutamine repeat disorders

Neurotherapeutics. 2014 Oct;11(4):751-63. doi: 10.1007/s13311-014-0289-7.

Abstract

Polyglutamine diseases are a class of neurodegenerative diseases that share an expansion of a glutamine-encoding CAG tract in the respective disease genes as a central hallmark. In all of these diseases there is progressive degeneration in a select subset of neurons, and the mechanisms behind this degeneration remain unclear. Emerging evidence from animal models of disease has identified abnormalities in synaptic signaling and intrinsic excitability in affected neurons, which coincide with the onset of symptoms and precede apparent neuropathology. The appearance of these early changes suggests that altered neuronal activity might be an important component of network dysfunction and that these alterations in network physiology could contribute to symptoms of disease. Here we review abnormalities in neuronal function that have been identified in both animal models and patients, and highlight ways in which these changes in neuronal activity may contribute to disease symptoms. We then review the literature supporting an emerging role for abnormalities in neuronal activity as a driver of neurodegeneration. Finally, we identify common themes that emerge from studies of neuronal dysfunction in polyglutamine disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Brain / metabolism
  • Brain-Derived Neurotrophic Factor
  • Calcium Signaling
  • Humans
  • Ion Channels / genetics
  • Neurodegenerative Diseases / genetics*
  • Neurodegenerative Diseases / metabolism*
  • Neurons / metabolism*
  • Peptides
  • Spinal Cord / metabolism
  • Trinucleotide Repeat Expansion*

Substances

  • Brain-Derived Neurotrophic Factor
  • Ion Channels
  • Peptides
  • polyglutamine