UBQLN2 in familial amyotrophic lateral sclerosis in The Netherlands

Neurobiol Aging. 2012 Sep;33(9):2233.e7-2233.e8. doi: 10.1016/j.neurobiolaging.2012.02.032. Epub 2012 Jun 5.

Abstract

Recently it was discovered that mutations in the UBQLN2 gene were a cause of an X-linked dominant type of familial amyotrophic lateral sclerosis (ALS). We investigated the frequency of mutations in this gene in a cohort of 92 families with ALS in the Netherlands. Eight families were excluded because of male-to-male transmission. In the remaining 84 familial ALS cases no mutations were discovered in UBQLN2. Hence, UBQLN2 was not found to be a cause of familial ALS in the Netherlands.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Amyotrophic Lateral Sclerosis / genetics*
  • Autophagy-Related Proteins
  • Cell Cycle Proteins / genetics*
  • Cohort Studies
  • DNA Mutational Analysis
  • Family Health*
  • Female
  • Humans
  • Male
  • Mutation / genetics*
  • Netherlands
  • Ubiquitins / genetics*

Substances

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