Offspring recurrence rates and clinical characteristics of conjugal multiple sclerosis
Offspring recurrence rates and clinical characteristics of conjugal multiple sclerosis
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夫妻多发性硬化症的后代复发率和临床特征
DOI：
10.1016/s0140-6736(96)07317-5
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发表时间：
1997
期刊：
影响因子：
--
通讯作者：
D. Compston
中科院分区：
文献类型：
--
作者：
N. Robertson;J. O'Riordan;J. Chataway;D. Kingsley;D. Miller;D. Clayton;D. Compston
背景对配偶多发性硬化症的系统研究尚未见报道。本研究的配偶对复杂的性状调查疾病的遗传性和遗传贡献的频率和clinical course.MethodsWe研究了45对配偶对一致的多发性硬化症从58对记录在国家登记的家族性疾病。对45对中的86个后代单独评估神经系统疾病的临床证据; 16岁以上的后代进行了颅磁共振成像。临床特征进行了比较，在33对成员都没有症状之前，他们meeted.FindingsOf 86后代，5（6%）有临床明确的多发性硬化症。另外5名儿童有特征性的影像学异常或与脱髓鞘一致的临床症状，但不符合临床确诊疾病的标准。没有证据表明临床一致性，在发病年份聚集，或扭曲的预期模式的发病年龄在第二个受影响的配偶从33对。夫妻子女的粗复发率（1/17）明显高于以前报道的单亲患病子女的人群风险（1/200）。解释考虑到多发性硬化症在受影响个体的配偶中的发病率较低，以及这些家庭中发病年龄缺乏一致性，夫妻子女与单亲子女之间的粗略复发率差异显示，子女的复发风险取决于父母双方遗传的遗传因素。
BackgroundThere has been no previous systematic study of conjugal multiple sclerosis. This study of conjugal pairs with complex traits investigated disease transmissibility and the genetic contribution to frequency and clinical course.MethodsWe studied 45 conjugal pairs concordant for multiple sclerosis from 58 pairs recorded in a national register of familial disease. 86 offspring of the 45 pairs were individually assessed for clinical evidence of neurological disease; those over age 16 underwent cranial magnetic resonance imaging. Clinical features were compared in 33 pairs in whom neither member had symptoms before they met.FindingsOf the 86 offspring, five (6%) had clinically definite multiple sclerosis. A further five children had either characteristic imaging abnormalities or clinical symptoms consistent with demyelination, but did not meet the criteria for clinically definite disease. There was no evidence of clinical concordance, clustering at year of onset, or distortion of the expected pattern of age of onset in the second affected spouse from 33 pairs. The crude recurrence in children of conjugal pairs (1 in 17) is significantly higher than previously reported population-based risks for offspring of single affected parents (1 in 200).InterpretationTaken with the low prevalence of multiple sclerosis in the spouses of affected individuals, and the lack of concordance for age at onset in these families, the disparity in crude recurrence between children of conjugal pairs and those of single affected parents shows that the recurrence risk in children is determined by genetic factors inherited from both parents.