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Genetics of familial Amyotrophic lateral sclerosis
Authors:Ticozzi Nicola  Tiloca Cinzia  Morelli Claudia  Colombrita Claudia  Poletti Barbara  Doretti Alberto  Maderna Luca  Messina Stefano  Ratti Antonia  Silani Vincenzo
Affiliation:Department of Neurology and Laboratory of Neuroscience IRCCS Istituto Auxologico Italiano, 20149 Milan, Italy. n.ticozzi@fastwebnet.it
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.
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