title: A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations.
abstract: Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND. Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene. In 2010, autosomal recessively inherited mutations in the optineurin (OPTN) gene were found in 1% of Japanese patients with sporadic amyotrophic lateral sclerosis (ALS). Autosomal dominantly inherited OPTN mutations have been described as a cause of primary open-angle glaucoma in the Netherlands and were also found in two Dutch sporadic MND patients. We report the first Dutch family with autosomal recessively inherited MND caused by mutations in the OPTN gene.
authors.affiliation: a Department of Neurology , The Netherlands.
authors.forename: Emma
authors.initials: E
authors.lastname: Beeldman
authors.affiliation: a Department of Neurology , The Netherlands.
authors.forename: Anneke J
authors.initials: AJ
authors.lastname: van der Kooi
authors.affiliation: a Department of Neurology , The Netherlands.
authors.forename: Marianne
authors.initials: M
authors.lastname: de Visser
authors.affiliation: b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
authors.forename: Merel C
authors.initials: MC
authors.lastname: van Maarle
authors.affiliation: b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
authors.forename: Fred
authors.initials: F
authors.lastname: van Ruissen
authors.affiliation: a Department of Neurology , The Netherlands.|b Clinical Genetics, Academic Medical Centre, University of Amsterdam , The Netherlands.
authors.forename: Frank
authors.initials: F
authors.lastname: Baas
mesh_terms: D000328:Adult; D000368:Aged; D018797:Cell Cycle Proteins; D004576:Electromyography; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D026901:Membrane Transport Proteins; D016472:Motor Neuron Disease / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009426:Netherlands; D035582:Transcription Factor TFIIIA / Q000235:genetics*; D055815:Young Adult
chemical_list: D018797:Cell Cycle Proteins; D026901:Membrane Transport Proteins; C409460:OPTN protein, human; D035582:Transcription Factor TFIIIA