Genetics of Amyotrophic Lateral Sclerosis
作者： Max Koppers , Michael van , Leonard H. van den Berg , Jan H. , R. Jeroen
DOI: 10.5772/31304
关键词:
摘要: The genetic cause of amyotrophic lateral sclerosis (ALS) is known in a minority cases. Mutations SOD1, the gene encoding superoxide dismutase on chromosome 21, are indeed found 20% familial ALS patients, who constitute only 5 or 10% all patients. In rare cases, mutation NFH, heavy subunit neurofilament, present. Familial has been linked to other loci but genes involved remain be identified. A component also thought at least contribute pathogenesis sporadic ALS. Their identification now possible thanks progress molecular genetics.
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