原发性睑痉挛的家族研究。
A family study on primary blepharospasm.
作者信息
Defazio G, Martino D, Aniello M S, Masi G, Abbruzzese G, Lamberti S, Valente E M, Brancati F, Livrea P, Berardelli A
机构信息
Department of Neurological and Psychiatric Sciences, University of Bari, Piazza Giulio Cesare 11, I-70124 Bari, Italy.
出版信息
J Neurol Neurosurg Psychiatry. 2006 Feb;77(2):252-4. doi: 10.1136/jnnp.2005.068007.
BACKGROUND
Previous family studies provided evidence that blepharospasm (BSP) can aggregate in families but did not 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.
背景
既往家族研究表明眼睑痉挛（BSP）可在家族中聚集，但未提供关于家族聚集特征和程度的准确可靠信息。
目的
评估家族性和非家族性BSP病例的比例、家族性肌张力障碍的临床表现、遗传模式及外显率。
方法
本研究基于对56例原发性BSP先证者的一级亲属进行检查。
结果
这56个家族共有436名一级亲属，其中296名在世，233名接受了检查。至少有一名一级亲属患BSP或成人起病的非BSP肌张力障碍的先证者比例为27%。家族性肌张力障碍存在显著的表型变异性。对先证者的兄弟姐妹和子女计算了相似的分离比。在成人起病肌张力障碍常染色体显性遗传的假设下，外显率约为20%。
结论
本家族研究结果有助于为BSP患者的家族提供准确的咨询，并可能有助于确定探索BSP遗传易感性的最合适研究设计。
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