Interest in genetic testing in pallido‐ponto‐nigral degeneration (PPND): a family with frontotemporal dementia with Parkinsonism linked to chromosome 17

The specific mutation on the tau gene responsible for a neurodegenerative disease known as pallido‐ponto‐nigral degeneration (PPND) was recently located. PPND family members are at risk for an autosomal dominant form of frontotemporal dementia with Parkinsonism linked to chromosome 17 (FTDP‐17). This study investigated whether individuals in this family would consider presymptomatic 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 consider testing now, and 55% (n=11) would think about it in the future. The most frequently cited reasons to proceed with testing were to ‘collaborate with research’ (70%) and to ‘know if my children are at risk’ (45%). The most frequently cited reason not to pursue testing was ‘I can enjoy my life more fully by not knowing’ (50%). Results suggest that interest in determining whether they will manifest PPND is generally low among at‐risk members of this family, despite wide support and participation in other research studies.

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