Author/Editor     Vrabec, Katarina; Koritnik, Blaž; Leonardis, Lea; Dolenc-Grošelj, Leja; Zidar, Janez; Smith, Bradley; Vance, Caroline; Rogelj, Boris; Glavač, Damjan; Ravnik-Glavač, Metka
Title     Genetic analysis of amyotrophic lateral sclerosis in the Slovenian population
Type     članek
Publication year     2015
ISSN     0197-4580 - Neurobiology of aging
Language     eng
Abstract     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.
Keywords     ALS genetic analysis
amyotrophic lateral sclerosis
Slovenian population
ALS genetska analiza
amiotrofična lateralna skleroza
slovenska populacija