家族性成人起病肌张力障碍中未患病亲属的感觉异常
Sensory abnormalities in unaffected relatives in familial adult-onset dystonia.
作者信息
O'Dwyer J P, O'Riordan S, Saunders-Pullman R, Bressman S B, Molloy F, Lynch T, Hutchinson M
机构信息
Department of Neurology, St Vincent's University Hospital, Dublin 4, Ireland.
出版信息
Neurology. 2005 Sep 27;65(6):938-40. doi: 10.1212/01.wnl.0000176068.23983.a8.
Somatosensory abnormalities are found in adult-onset primary torsion dystonia (PTD). Therefore we assessed spatial discrimination thresholds (SDT), a measure of spatial acuity, in four multiplex families with adult-onset PTD. In family members aged 20 to 45 years vs controls (mean + 2.5 SD), abnormal SDTs were found in four of five affected with adult-onset PTD and in 12 of 49 unaffected relatives. Sensory abnormalities may be an endophenotype, possibly expressed later as adult-onset PTD.
在成人起病的原发性扭转性肌张力障碍（PTD）中发现了体感异常。因此，我们评估了四个成人起病的PTD多重家庭的空间辨别阈值（SDT），这是一种空间敏锐度的测量方法。在20至45岁的家庭成员与对照组（平均值±2.5标准差）中，五个成人起病的PTD患者中有四个以及49名未受影响的亲属中有12人发现了异常的SDT。感觉异常可能是一种内表型，可能在以后表现为成人起病的PTD。
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