VSE knjižnice (vzajemna bibliografsko-kataložna baza podatkov COBIB.SI)
  • Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population
    Vrabec, Katarina ...
    Amyotrophic lateral sclerosis (ALS) is a complex fatal neurodegenerative disease characterized by progressive degeneration and loss of upper motor neurons in the cerebral cortex and lower motor ... neurons in brainstem and spinal cord. We established the frequencies of mutations in 4 major ALS-associated genes, SOD1, TARDBP, FUS, and C9ORF72 in a representative cohort of 85 Slovenian patients with sporadic form of ALS. Pathogenic massive hexanucleotide repeat expansion mutation in C9ORF72 was detected in 5.9% of patients and was the most common cause of the disease. In the remaining 3 genes, we identified 4 changes in 3 patients, p.Val14Met in SOD1, silent mutation p.Arg522Arg in FUS, and p.Gly93Cys in SOD1 together with a novel synonymous variant c.990A>G (p.Leu330Leu) in TARDBP gene, respectively. This study represents the first genetic screening of major causative genes for ALS in a cohort of sporadic ALS patients from Slovenia and is according to our knowledge the first such study in Slavic population. Overall, we genetically characterized 8.2% sporadic ALS patients.
    Vir: Neurobiology of aging. - ISSN 0197-4580 (Vol. 36, iss. 3, Mar. 2015, str. 1601.e17-1601.e20)
    Vrsta gradiva - članek, sestavni del ; neleposlovje za odrasle
    Leto - 2015
    Jezik - angleški
    COBISS.SI-ID - 31780313

    Povezava(-e):

    http://www.sciencedirect.com/science/article/pii/S0197458014007271
    DOI

vir: Neurobiology of aging. - ISSN 0197-4580 (Vol. 36, iss. 3, Mar. 2015, str. 1601.e17-1601.e20)
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