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- Title
Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis.
- Authors
Orell, Richard W.; Habgood, James; Rudge, Petter; Lane, Russell J. M.; de Belleroche, Jackie S.
- Abstract
Mutations of the copperlzinc superoxide dismutase (SOD-1) gene are present in around 20% of patients with a family history of amyotrophic lateral sclerosis. The finding of these mutations in patients with sporadic amyotrophic lateral sclerosis is rare. We describe a family with amyotrophic lateral sclerosis associated with the SOD-1 mutation Asp 101 Asn. This mutation was previously described as occurring in a patient with sporadic disease. We discuss the difficulties in defining truly sporadic amyotrophic lateral sclerosis, and the consequent implications on the neurogenetic advice given to other family members.
- Publication
Annals of Neurology, 1996, Vol 39, Issue 6, p810
- ISSN
0364-5134
- Publication type
Article
- DOI
10.1002/ana.410390620