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Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation
Umeå University, Faculty of Medicine, Department of Medical Biosciences, Clinical chemistry.
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2012 (English)In: AMYOTROPH LATERAL SC, ISSN 1748-2968, Vol. 13, no 6, 567-569 p.Article in journal (Refereed) Published
Abstract [en]

Mutations in the gene for superoxide dismutase type 1 cause amyotrophic lateral sclerosis (ALS), but are not thought to be associated with frontotemporal dementia (FTD). A lack of detailed case reports is one reason, among others, for this skepticism. This case report comments on a patient with familial ALS caused by I113T mutation in the SOD1 gene presenting with progressive cognitive and behavioral decline two years before developing progressive motor degeneration. In conclusion, this case provides evidence that SOD1 mutations can be associated with FTD.

Place, publisher, year, edition, pages
London: Informa Healthcare, 2012. Vol. 13, no 6, 567-569 p.
Keyword [en]
Amyotrophic lateral sclerosis, frontotemporal dementia, superoxide dismutase type 1
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URN: urn:nbn:se:umu:diva-60306DOI: 10.3109/17482968.2012.678365ISI: 000308423800014OAI: diva2:566661
Available from: 2012-11-09 Created: 2012-10-09 Last updated: 2013-03-12Bibliographically approved

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Marklund, Stefan L.Andersen, Peter M.
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