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THEME 8 COGNITIVE AND PSYCHOLOGICAL ASSESSMENT AND SUPPORT

Background: Mutations that cause amyotrophic lateral sclerosis/frontotemporal dementia have been found in genes for microtubular associated protein tau-2 (MAPT-2), progranulin (PRG), the valosin containing protein gene (VCP) and in the dynactin 1 gene (DCTN1). While SOD-1 is the most common form of familial ALS, there is little evidence that this mutation can also cause dementia. To date, there have been only two cases of FTD reported with SOD-1 mutations. In one the mutation was G41S and in the other leu144phe. Neuropsychological testing and PET studies have also been found to show abnormalities in some patients with SOD-1 mutations who do not have frank dementia.