PRRT2-dependent dyskinesia: cerebellar, paroxysmal and persistent

Cell Res. 2018 Jan;28(1):3-4. doi: 10.1038/cr.2017.142. Epub 2017 Nov 17.

Abstract

In an elegant publication in Cell Research, Tan and colleagues showed that ablation of PRRT2 in cerebellar granule cells is sufficient to induce paroxysmal kinesigenic dyskinesia. PRRT2 turns out to downregulate the presynaptic SNARE complex in granule cell axons, which in turn controls the activity patterns of Purkinje cells, the sole output of the cerebellar cortex.

Publication types

  • Comment

MeSH terms

  • Cerebellum
  • Dyskinesias*
  • Dystonia
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Nerve Tissue Proteins / genetics*
  • Synaptic Transmission

Substances

  • Membrane Proteins
  • Nerve Tissue Proteins
  • PRRT2 protein, human

Supplementary concepts

  • Familial paroxysmal dystonia