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

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43 Scopus citations


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
Issue number5
StatePublished - May 2012


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

ASJC Scopus subject areas

  • General Neuroscience
  • Aging
  • Clinical Neurology
  • Developmental Biology
  • Geriatrics and Gerontology


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