title: [The pathogenesis of amyotrophic lateral sclerosis and frontal lobe dementia is unraveling: pathology of the nucleus and glutamate sensitivity].
abstract: The mechanisms of neurodegenerative diseases have begun to become unraveled, thanks to the progress in stem cell research. The repeat expansion in the C90RF72 gene was identified in 2011 as the most common genetic cause of both ALS and frontal lobe dementia. Only over a couple of years the disease mechanisms of this mutation have been revealed and treatment trials have already been conducted in nerve cell cultures differentiated from patients' stem cells. We discuss the role of the repeat expansion in the C90RF72 gene in the epidemiology of the diseases and the resulting disturbances in nerve cell function.
authors.forename: Pentti
authors.initials: P
authors.lastname: Tienari
authors.forename: Anna
authors.initials: A
authors.lastname: Kiviharju
authors.forename: Miko
authors.initials: M
authors.lastname: Valori
authors.forename: Dan
authors.initials: D
authors.lastname: Lindholm
authors.forename: Hannu
authors.initials: H
authors.lastname: Laaksovirta
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D000073885:C9orf72 Protein; D042622:DNA Repeat Expansion / Q000235:genetics; D057180:Frontotemporal Dementia / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D018698:Glutamic Acid / Q000378:metabolism; D006801:Humans; D009154:Mutation; D011506:Proteins / Q000235:genetics*
chemical_list: D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D011506:Proteins; D018698:Glutamic Acid