UBQLN2 variant of unknown significance in frontotemporal lobar degeneration

Neurobiol Aging. 2015 Jan;36(1):546.e15-6. doi: 10.1016/j.neurobiolaging.2014.08.002. Epub 2014 Aug 6.

Abstract

Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are considered to be part of a disease spectrum. However, with the exception of C9orf72, genes that cause ALS are rarely found to cause FTD and vice versa. To investigate this further, we have sequenced the ALS gene UBQLN2 in our FTD cohort and have found a single putative mutation. This further supports the concept that ALS genes are a rare cause of FTD.

Keywords: ALS; Amyotrophic lateral sclerosis; FTD; Frontotemporal dementia; UBQLN2.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Adult
  • Aged
  • Aged, 80 and over
  • Amyotrophic Lateral Sclerosis / genetics
  • Autophagy-Related Proteins
  • Cell Cycle Proteins / genetics*
  • Cohort Studies
  • Female
  • Frontotemporal Lobar Degeneration / genetics*
  • Humans
  • Male
  • Middle Aged
  • Mutation*
  • Ubiquitins / genetics*
  • Young Adult

Substances

  • Adaptor Proteins, Signal Transducing
  • Autophagy-Related Proteins
  • Cell Cycle Proteins
  • UBQLN2 protein, human
  • Ubiquitins