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Arch Hellen Med, 37(2), March-April 2019, 166-175


The genetics of amyotrophic lateral sclerosis. An update

C. Kartanou, G. Koutsis, M. Panas, G. Karadima
Neurogenetics Unit, First Department of Neurology, "Eginition" Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

Amyotrophic lateral sclerosis (ALS) is an adult onset, neurodegenerative disorder, characterized by rapid progressive paralysis and death within a few years after symptom onset. The clinical and genetic heterogeneity of ALS makes it difficult to prove a definitive genetic diagnosis, but recent progress in molecular genetics has made clear that genetic testing can be of use in identifying genes involved in the disease pathogenesis. Until recently, the only available disease-modifying treatment for ALS was the drug riluzole, but in 2017 the Food and Drug Administration (FDA) approved another disease-modifying drug, edaravone. This review presents current knowledge on the major and the secondary genes involved in the pathogenesis of ALS and genotype-phenotype correlations, the diagnostic strategies and the latest therapeutic approaches.

Key words: Amyotrophic lateral sclerosis, Genetic diagnostics, Genetic therapy, Motor neurone disease, Neurogenetics.

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