McRae C A, Diem G, Yamazaki T G, Mitek A, Wszolek Z K
University of Denver, Denver, Colorado, USA.
Eur J Neurol. 2001 Mar;8(2):179-83. doi: 10.1046/j.1468-1331.2001.00198.x.
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.
导致一种名为苍白球-脑桥-黑质变性（PPND）的神经退行性疾病的tau基因突变最近已被定位。PPND患者家族成员有患常染色体显性额颞叶痴呆伴帕金森综合征（FTDP - 17）的风险，该综合征与17号染色体有关。本研究调查了该家族中的个体是否会考虑进行症状前基因检测。研究向该家族中66名有风险的个体发送了调查问卷；收到了20份回复（回复率为30%）。研究询问家族成员是否会考虑现在或将来进行检测，并要求他们说明支持和反对进行检测的理由。有风险且回复的人中，50%（n = 10）表示会考虑现在进行检测，55%（n = 11）表示将来会考虑。最常被提及的进行检测的理由是“与研究合作”（70%）和“了解我的孩子是否有风险”（45%）。最常被提及的不进行检测的理由是“不知道的话我能更充分地享受生活”（50%）。结果表明，尽管该家族其他研究得到广泛支持和参与，但有风险的家族成员对确定自己是否会患PPND的兴趣普遍较低。
