Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation

Amyotroph Lateral Scler. 2012 Oct;13(6):567-9. doi: 10.3109/17482968.2012.678365. Epub 2012 Jun 7.

Abstract

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amyotrophic Lateral Sclerosis / complications
  • Amyotrophic Lateral Sclerosis / genetics*
  • Amyotrophic Lateral Sclerosis / pathology
  • Frontotemporal Dementia / complications
  • Frontotemporal Dementia / genetics*
  • Frontotemporal Dementia / pathology
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Superoxide Dismutase / genetics*
  • Superoxide Dismutase-1

Substances

  • SOD1 protein, human
  • Superoxide Dismutase
  • Superoxide Dismutase-1