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

C. A. McRae, G. Diem, T. G. Yamazaki, A. Mitek, Zbigniew K Wszolek

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)179-183
Number of pages5
JournalEuropean Journal of Neurology
Volume8
Issue number2
DOIs
StatePublished - 2001

Fingerprint

Frontotemporal Dementia
Chromosomes, Human, Pair 17
Genetic Testing
Substantia Nigra
Research
Neurodegenerative Diseases
Mutation
Genes

Keywords

  • FTDP-17
  • Genetic testing
  • PPND N279K tau mutation

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Interest in genetic testing in pallido-ponto-nigral degeneration (PPND) : A family with frontotemporal dementia with Parkinsonism linked to chromosome 17. / McRae, C. A.; Diem, G.; Yamazaki, T. G.; Mitek, A.; Wszolek, Zbigniew K.

In: European Journal of Neurology, Vol. 8, No. 2, 2001, p. 179-183.

Research output: Contribution to journalArticle

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