title: Genetics of familial Amyotrophic lateral sclerosis.
abstract: Amyotrophic lateral sclerosis (ALS) is a late onset, rapidly progressive and ultimately fatal neurodegenerative disease, caused by the loss of motor neurons in the brain and spinal cord. About 10% of all ALS cases are familial (FALS), and constitute a clinically and genetically heterogeneous entity. To date, FALS has been linked to mutations in 10 different genes and to four additional chromosomal loci. Research on FALS genetics, and in particular the discoveries of mutations in the SOD1, TARDBP, and FUS genes, has provided essential information toward the understanding of the pathogenesis of ALS in general. This review presents a tentative classification of all FALS-associated genes identified so far.
authors.affiliation: Department of Neurology and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy. n.ticozzi@fastwebnet.it
authors.forename: Nicola
authors.initials: N
authors.lastname: Ticozzi
authors.forename: Cinzia
authors.initials: C
authors.lastname: Tiloca
authors.forename: Claudia
authors.initials: C
authors.lastname: Morelli
authors.forename: Claudia
authors.initials: C
authors.lastname: Colombrita
authors.forename: Barbara
authors.initials: B
authors.lastname: Poletti
authors.forename: Alberto
authors.initials: A
authors.lastname: Doretti
authors.forename: Luca
authors.initials: L
authors.lastname: Maderna
authors.forename: Stefano
authors.initials: S
authors.lastname: Messina
authors.forename: Antonia
authors.initials: A
authors.lastname: Ratti
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Silani
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000473:pathology; D004268:DNA-Binding Proteins / Q000235:genetics; D005192:Family Health; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D009046:Motor Neurons / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D034702:RNA-Binding Protein FUS / Q000235:genetics; D013116:Spinal Cord / Q000473:pathology; D013482:Superoxide Dismutase / Q000235:genetics; D000072105:Superoxide Dismutase-1
chemical_list: D004268:DNA-Binding Proteins; D034702:RNA-Binding Protein FUS; C000606290:SOD1 protein, human; D013482:Superoxide Dismutase; D000072105:Superoxide Dismutase-1