亨廷顿舞蹈症的发病年龄：遗传系谱及患者性别的影响
Age at onset in Huntington's disease: effect of line of inheritance and patient's sex.
作者信息
Roos R A, Vegter-van der Vlis M, Hermans J, Elshove H M, Moll A C, van de Kamp J J, Bruyn G W
机构信息
Department of Neurology, Academic Hospital Leiden, The Netherlands.
出版信息
J Med Genet. 1991 Aug;28(8):515-9. doi: 10.1136/jmg.28.8.515.
The Leiden Roster for Huntington's disease (HD) contained data on 2617 cases up to July 1988. The age at onset (AO) was known in 1084 cases and in 1020 of these both their AO and the sex of the affected parent was known. The mean AO was higher for females than for males and higher for maternal than for paternal cases. However, in the group born before 1925 only females with maternal inheritance had a higher mean AO. Data on influence of sex and line of inheritance were present for the grandparents as well as for the great grandparents. Influence of the line of inheritance from the grandparents was particularly present for the grandmother-father (MP) lineage; regarding the great grandparents a significant difference was found between the MPM and PMP lineage. The results obtained for juvenile HD cases were comparable to those previously published. In late onset cases (over 50 years) no maternal preponderance in inheritance was found.
截至1988年7月，莱顿亨廷顿病（HD）名册包含2617例病例的数据。1084例病例的发病年龄（AO）已知，其中1020例病例的AO以及受影响父母的性别均已知。女性的平均AO高于男性，母系遗传病例的平均AO高于父系遗传病例。然而，在1925年之前出生的人群中，只有母系遗传的女性平均AO较高。关于祖父母以及曾祖父母的性别和遗传系谱的影响数据均有呈现。祖母-父亲（MP）系谱中，祖父母遗传系谱的影响尤为明显；关于曾祖父母，MPM和PMP系谱之间存在显著差异。青少年HD病例的结果与之前发表的结果相当。在晚发型病例（50岁以上）中，未发现母系遗传优势。
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