Familial primary lateral sclerosis or dementia associated with Arg573Gly TBK1 mutation

J Neurol Neurosurg Psychiatry. 2017 Nov;88(11):996-997. doi: 10.1136/jnnp-2016-315250. Epub 2017 Apr 1.
No abstract available

Keywords: TBK1 gene; amyotrophic lateral sclerosis; frontotemporal lobar degeneration; genotype-phenotype correlations; primary lateral sclerosis.

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Case-Control Studies
  • Europe
  • Female
  • Frontotemporal Dementia / complications
  • Frontotemporal Dementia / genetics*
  • Humans
  • Male
  • Middle Aged
  • Motor Neuron Disease / genetics*
  • Motor Neuron Disease / psychology*
  • Mutation / genetics*
  • Pedigree
  • Protein-Serine-Threonine Kinases / genetics*

Substances

  • Protein-Serine-Threonine Kinases
  • TBK1 protein, human