Difficulties in distinguishing sporadic from familial amyotrophic lateral sclerosis
- 1 June 1996
- journal article
- case report
- Published by Wiley in Annals of Neurology
- Vol. 39 (6) , 810-812
- https://doi.org/10.1002/ana.410390620
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.Keywords
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