Early onset Parkinsonism associated with an intronic SOD1 mutation
2012 (English)In: Amyotrophic Lateral Sclerosis and other Motor Neuron Disorders, ISSN 1466-0822, E-ISSN 1471-180X, Vol. 13, no 3, 315-317 p.Article in journal (Refereed) Published
We report on a patient belonging to a large family with autosomal-dominant amyotrophic lateral sclerosis, who developed asymmetrical akineto-rigid symptoms at 33 years of age. He had no signs of lower motor neuron disease after four years of follow-up. All seven ALS patients from this family harboured a mutation located in the fourth intron of the SOD1 gene. The proband also harboured the same mutation, associated with a 40% decrease in SOD1 erythrocyte activity. This case report suggests that SOD1 mutations might be associated with marked phenotypic variability (ALS or early onset Parkinsonism in this family).
Place, publisher, year, edition, pages
London: Informa Healthcare, 2012. Vol. 13, no 3, 315-317 p.
ALS, FALS, Parkinsonism, SOD1
IdentifiersURN: urn:nbn:se:umu:diva-55502DOI: 10.3109/17482968.2011.623301ISI: 000303325500011OAI: oai:DiVA.org:umu-55502DiVA: diva2:528712