Interest in genetic testing in pallido-ponto-nigral degeneration (PPND): afamily with frontotemporal dementia with Parkinsonism linked to chromosome17

The specific mutation on the tau gene responsible for a neurodegenerative d isease known as pallido-ponto-nigral degeneration (PPND) was recently locat ed. PPND family members are at risk for an autosomal dominant form of front otemporal dementia with Parkinsonism linked to chromosome 17 (FTDP-17). Thi s study investigated whether individuals in this family would consider pres ymptomatic genetic testing. Surveys were sent to 66 at-risk individuals in the family; replies were received from 20 (30%). Family members were asked if they would consider having testing now or in the future, and to indicate their reasons for and against proceeding with testing. Fifty per cent (n = 10) of those who were at risk and who responded indicated they would consi der testing now, and 55% (n = 11) would think about it in the future. The m ost frequently cited reasons to proceed with testing were to 'collaborate w ith research' (70%) and to 'know if my children are at risk' (45%). The mos t frequently cited reason not to pursue testing was 'I can enjoy my life mo re fully by not knowing' (50%). Results suggest that interest in determinin g whether they will manifest PPND is generally low among at-risk members of this family, despite wide support and participation in other research stud ies.