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Combined fulminant ...
Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation
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Katz, Jonathan S. (author)
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Katzberg, Hans D. (author)
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Woolley, Susan C. (author)
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- Marklund, Stefan L. (author)
- Umeå universitet,Klinisk kemi
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- Andersen, Peter M. (author)
- Umeå universitet,Klinisk neurovetenskap
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(creator_code:org_t)
- 2012-06-07
- 2012
- English.
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In: AMYOTROPH LATERAL SC. - London : Informa Healthcare. - 1748-2968 .- 1471-180X. ; 13:6, s. 567-569
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.3...
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Abstract
Subject headings
Close
- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Keyword
- Amyotrophic lateral sclerosis
- frontotemporal dementia
- superoxide dismutase type 1
Publication and Content Type
- ref (subject category)
- art (subject category)
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