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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Novel heterozygous nonsense mutation of the OPTN gene segregating in a Danish family with ALS

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  1. Striking reduction in neurons and glial cells in anterior thalamic nuclei of older patients with Down syndrome

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  2. The total number of myelinated nerve fibers is reduced in corpus callosum in brains from patients with Alzheimer's disease

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  3. The effect of long-term treatment with coenzyme Q10 on nucleic acid modifications by oxidation in children with Down syndrome

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  1. Tissue variations of mosaic genome-wide paternal uniparental disomy and phenotype of multi-syndromal congenital hyperinsulinism

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Author response: Nationwide prevalence and incidence study of neuromyelitis optica spectrum disorder in Denmark

    Publikation: Bidrag til tidsskriftKommentar/debatForskningpeer review

  3. Alcohol consumption in adolescence is associated with a lower risk of multiple sclerosis in a Danish cohort

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Vis graf over relationer
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder. About 10% of ALS cases are familial (FALS) and the genetic defect is known only in approximately 20%-30% of these cases. The most common genetic cause of ALS is SOD1 (superoxide dismutase 1) mutation. Very recently, mutations of the optineurin gene (OPTN), which is involved in open-angle glaucoma, were identified in 3 Japanese patients/families with ALS, and subsequently in a few FALS patients of European descent. We found a heterozygous nonsense mutation (c.493C>T, p.Gln165X, exon 6) in the OPTN gene in a Danish patient with ALS, and the mutation segregated from his affected father. The p.Gln165X mutation could not be detected in 1070 healthy Danish controls, in 1000 Danish individuals with metabolic phenotypes or in 64 sporadic ALS (SALS) cases. The p.Gln165X mutation described in this study is the first mutation reported in a Danish family and is likely involved in disease pathogenesis. Until now, only few OPTN mutations have been associated with ALS. As the underlying genetic defect is known only in approximately 20%-30% of FALS families, further screening of these cases is necessary for establishing the contribution of OPTN mutations in disease pathogenesis.
OriginalsprogEngelsk
TidsskriftNeurobiology of Aging
Vol/bind33
Udgave nummer1
Sider (fra-til)208.e1-5
DOI
StatusUdgivet - 2012

ID: 36884499