Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients

Marka Van Blitterswijk, Paul W.J. van Vught, Michael A. van Es, Helenius J. Schelhaas, Anneke J. van der Kooi, Marianne de Visser, Jan H. Veldink, Leonard H. van den Berg

Research output: Contribution to journalArticle

32 Citations (Scopus)

Abstract

Optineurin (OPTN) mutations have been reported in a cohort of Japanese patients with familial (FALS) and sporadic (SALS) amyotrophic lateral sclerosis. In Caucasian patients, OPTN mutations have been identified in FALS patients, but were not detected in a cohort of 95 SALS patients. Moreover, single nucleotide polymorphisms (SNPs) in OPTN that could raise amyotrophic lateral sclerosis (ALS) susceptibility have not been investigated. Therefore, we screened a large Dutch cohort of 1191 patients with SALS, 94 patients with FALS, and 1415 control subjects for mutations and SNPs in OPTN. We identified 1 novel nonsense mutation (Q165X) and 1 unreported missense mutation (Q454E) in individual SALS patients. These patients demonstrated rapid disease progression with an average survival of 24.5 months. No heterozygous or homozygous OPTN mutations were identified in our cohort of FALS patients. SNP analysis did not reveal significant differences between ALS patients and control subjects. Therefore, variations in OPTN appear to be a rare cause of rapidly progressive SALS in the Netherlands.

Original languageEnglish (US)
Pages (from-to)1016.e1-1016.e7
JournalNeurobiology of Aging
Volume33
Issue number5
DOIs
StatePublished - Jan 1 2012
Externally publishedYes

Fingerprint

Mutation
Single Nucleotide Polymorphism
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis 1
Nonsense Codon
Missense Mutation
Netherlands
Disease Progression
Survival

Keywords

  • Amyotrophic lateral sclerosis
  • Familial ALS
  • Genetics
  • Motor neuron disease
  • Mutations
  • Optineurin

ASJC Scopus subject areas

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

Cite this

Van Blitterswijk, M., van Vught, P. W. J., van Es, M. A., Schelhaas, H. J., van der Kooi, A. J., de Visser, M., ... van den Berg, L. H. (2012). Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging, 33(5), 1016.e1-1016.e7. https://doi.org/10.1016/j.neurobiolaging.2011.05.019

Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. / Van Blitterswijk, Marka; van Vught, Paul W.J.; van Es, Michael A.; Schelhaas, Helenius J.; van der Kooi, Anneke J.; de Visser, Marianne; Veldink, Jan H.; van den Berg, Leonard H.

In: Neurobiology of Aging, Vol. 33, No. 5, 01.01.2012, p. 1016.e1-1016.e7.

Research output: Contribution to journalArticle

Van Blitterswijk, M, van Vught, PWJ, van Es, MA, Schelhaas, HJ, van der Kooi, AJ, de Visser, M, Veldink, JH & van den Berg, LH 2012, 'Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients', Neurobiology of Aging, vol. 33, no. 5, pp. 1016.e1-1016.e7. https://doi.org/10.1016/j.neurobiolaging.2011.05.019
Van Blitterswijk M, van Vught PWJ, van Es MA, Schelhaas HJ, van der Kooi AJ, de Visser M et al. Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. Neurobiology of Aging. 2012 Jan 1;33(5):1016.e1-1016.e7. https://doi.org/10.1016/j.neurobiolaging.2011.05.019
Van Blitterswijk, Marka ; van Vught, Paul W.J. ; van Es, Michael A. ; Schelhaas, Helenius J. ; van der Kooi, Anneke J. ; de Visser, Marianne ; Veldink, Jan H. ; van den Berg, Leonard H. / Novel optineurin mutations in sporadic amyotrophic lateral sclerosis patients. In: Neurobiology of Aging. 2012 ; Vol. 33, No. 5. pp. 1016.e1-1016.e7.
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