A family study on primary blepharospasm
A family study on primary blepharospasm
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DOI：
10.1136/jnnp.2005.068007
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发表时间：
2006-02-01
影响因子：
11
通讯作者：
Berardelli, A
中科院分区：
文献类型：
--
作者：
Defazio, G;Martino, D;Berardelli, A
背景：以往的家系研究提供了眼睑痉挛(BSP)可以聚集在家族中的证据，但没有提供关于家族性和非家族性BSP的特征和聚集程度的准确可靠的信息。目的：评估家族性和非家族性BSP病例的比例、家族内肌张力障碍的临床表现、遗传模式和渗透程度。方法：本研究基于56例原发性BSP先证者一级亲属的检查。结果：56个家系产生潜在人群436人，其中296人在世，233人接受检查。指标患者中至少有一个一级亲属受BSP影响，或除BSP外的成人起病肌张力障碍的比例为27%。肌张力障碍在家系内有显著的表型变异。同样，对先证者的兄弟姐妹和子女的隔离比例也进行了计算。在常染色体显性遗传成人肌张力障碍的假设下，外显率约为20%。结论：该家系研究的结果对于准确指导BSP患者的家属具有重要意义，并有助于确定最合适的研究设计，以探讨BSP的遗传易感性。
Background: Previous family studies' provided evidence that blepharospasm (BSP) can aggregate in families but did no give accurate and reliable information on the characteristics, and degree of familial clustering.Aim: To evaluate the proportion of familial, and non-familial BSP cases, the clinical expression of dystonia within families the inheritance pattern, and the extent of penetrance.Methods: The,study was based on the examination of the first degree relatives of 56, probands with primary BSP.Results: The 56 families produced a potential population of 436 first degree relatives of whom 296 were alive and 233 were examined. The proportion of index patients with at least one first degree relative affected by BSP, or adult onset dystonia other than BSP, was 27%. There was a remarkable degree of phenotypic variability of dystonia within families. Similar, segregation ratios were calculated for probands' siblings and children. Under the assumption of autosomal dominant transmission of adult onset dystonia, penetrance was about 20%.Conclusions: The findings of this family study are relevant for accurately counselling the families of patients with BSP and may help identify the most, appropriate study design to explore genetic susceptibility in BSP.