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.
Acknowledgements
We are indebted to the patient and his family for their participation in this project and to Nadine Yassa and Phyllis Pearle for their help in bringing the case to our attention. The video is presented with written informed consent of the family, to whom we are also grateful.
The project was supported, in part, with funding from Bertil Hållsten’s Research Foundation, the Swedish Medical Society and the Swedish Science Council. The authors have no other conflicts of interest related to this work.
Declaration of interest: The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.