UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands

Perry T.C. van Doormaal, Wouter van Rheenen, Marka van Blitterswijk, Raymond D. Schellevis, Helenius J. Schelhaas, Marianne de Visser, Anneke J. van der Kooi, Jan H. Veldink, Leonard H. van den Berg

Research output: Contribution to journalArticle

10 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2233.e7-2233.e8
JournalNeurobiology of aging
Volume33
Issue number9
DOIs
StatePublished - Sep 2012

Keywords

  • Amyotrophic lateral sclerosis
  • Motor neuron disease
  • UBQLN2
  • Ubiquilin 2

ASJC Scopus subject areas

  • Neuroscience(all)
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology

Fingerprint Dive into the research topics of 'UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands'. Together they form a unique fingerprint.

  • Cite this

    van Doormaal, P. T. C., van Rheenen, W., van Blitterswijk, M., Schellevis, R. D., Schelhaas, H. J., de Visser, M., van der Kooi, A. J., Veldink, J. H., & van den Berg, L. H. (2012). UBQLN2 in familial amyotrophic lateral sclerosis in the Netherlands. Neurobiology of aging, 33(9), 2233.e7-2233.e8. https://doi.org/10.1016/j.neurobiolaging.2012.02.032