Williams A, Eldridge R, McFarland H, Houff S, Krebs H, McFarlin D
Neurology. 1980 Nov;30(11):1139-47. doi: 10.1212/wnl.30.11.1139.
We studied 30 sets of twins in whom one or both was suspected of having multiple sclerosis (MS). In 24 pairs, a firm clinical diagnosis was made on each twin. Among these 24 pairs, 6 of 12 monozygotic twins were concordant for clinical MS, compared with 2 of 12 dizygotic twins. Of those over the age of 50, two of three monozygotic pairs were concordant, but neither of the two dizygotic twin pairs were concordant. Because ascertainment was primarily through public announcement, this series may be biased in favor of twins concordant for MS. The individuals within monozygotic concordant twin pairs exhibited wide differences in severity and age at onset of disease; the more recently affected twin tended to have a lower cerebrospinal fluid (CSF) IgG and a higher IgM level. Although the frequency of HLA-B7 and Dw2 in this twin population was high, the HLA makeup did not differ appreciably between concordant and discordant MS twins. Furthermore, the two DZ-concordant twins were HLA-nonidentical. Unexplained neurologic signs were found in three asymptomatic twins, and a high proportion of clinically normal twins had abnormalities of CSF immunoglobulins. These latter findings suggest a high incidence of subclinical MS in this population.
我们研究了30对双胞胎,其中一方或双方被怀疑患有多发性硬化症(MS)。在24对双胞胎中,对每对双胞胎都做出了明确的临床诊断。在这24对双胞胎中,12对单卵双胞胎中有6对临床MS一致,而12对双卵双胞胎中只有2对一致。在50岁以上的人群中,三对单卵双胞胎中有两对一致,但两对双卵双胞胎均不一致。由于主要是通过公开招募确定研究对象,因此该系列研究可能偏向于MS一致的双胞胎。单卵一致的双胞胎个体在疾病严重程度和发病年龄上表现出很大差异;较晚发病的双胞胎脑脊液(CSF)IgG水平较低,IgM水平较高。尽管该双胞胎群体中HLA-B7和Dw2的频率较高,但MS一致和不一致的双胞胎之间HLA组成没有明显差异。此外,两对双卵一致的双胞胎HLA并不相同。在三名无症状双胞胎中发现了无法解释的神经学体征,并且在临床上正常的双胞胎中有很大比例的脑脊液免疫球蛋白异常。这些发现表明该人群中亚临床MS的发病率很高。