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Title: Genetics of amyotrophic lateral sclerosis
Authors: Robberecht, Wim # ×
Issue Date: Jan-2001
Series Title: Journal of neurology vol:247 pages:2-6
Abstract: The genetic cause of amyotrophic lateral sclerosis (ALS) is known in a minority of cases. Mutations in SOD1, the gene encoding a superoxide dismutase on chromosome 21, are indeed found in 20% of familial ALS patients, who constitute only 5 or 10% of all ALS patients. In rare cases, a mutation in NFH, the gene encoding the heavy subunit of neurofilament, is present. Familial ALS has been linked to other loci but the genes involved remain to be identified. A genetic component is also thought to at least contribute to the pathogenesis of sporadic ALS. Their identification is now possible thanks to progress in molecular genetics.
URI: 
ISSN: 0340-5354
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Research Group Experimental Neurology
Laboratory for Neurobiology (Vesalius Research Center)
× corresponding author
# (joint) last author

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