Frequency of Tau Gene Mutations in Familial and Sporadic Cases of Non-Alzheimer Dementia

Open Access
Publisher Website
Google Scholar
Abstract
FRONTOTEMPORAL dementia (FTD) has been increasingly recognized as a common form of non–Alzheimer disease (AD) dementia that is clinically characterized by behavioral problems predominating over memory loss and frontal and temporal lobar cortical atrophy.1 A familial subtype of FTD, often with parkinsonian features, has been linked to chromosome 17, and several mutations in the tau gene have been discovered to segregate with the disease in most of these families.2-6 Because FTD and other non-AD dementias are relatively common, especially in the presenile age group (younger than 65 years), it is important to determine the frequency of tau mutations in this population. Thus far, only 2 studies have addressed this issue. Rizzu et al,7 in an FTD population from the Netherlands, found that 17.8% of cases had a tau mutation and 43% of cases with a positive family history had a tau mutation. Houlden et al8 studied non-AD dementia cases from Minnesota and the United Kingdom. They found no tau mutations in 71 non-AD cases, whereas 9.4% to 13.6% of those with pathologic findings of FTD had tau mutations. We report herein the largest series to date from North America of FTD and non-AD cases of dementia evaluated for mutations in the tau gene.