Ann Neurol. 1998 Apr;43(4):530-4. doi: 10.1002/ana.410430419.
The demographic and clinical characteristics of 89 multiplex families whose affected members meet proposed diagnostic criteria for multiple sclerosis (MS) genetic research are described and compared with 425 sporadic cases of MS and other published collections of MS multiplex families. The proportion of affected multiplex family members who experienced gradual progression of disability from onset (primary progressive MS) is lower than reported by other investigators. Different phenotypes of MS may reflect genetic heterogeneity that may partially explain inconsistencies in the results of genetic linkage studies. Clinical details of affected multiplex family members must be described so that comparisons of genetic results across studies can be properly interpreted.
描述了89个多重家庭的人口统计学和临床特征，这些家庭中受影响的成员符合多发性硬化症（MS）基因研究的拟议诊断标准，并与425例散发性MS病例以及其他已发表的MS多重家庭集合进行了比较。从发病起就经历残疾逐渐进展（原发性进展型MS）的受影响多重家庭成员比例低于其他研究者报告的比例。MS的不同表型可能反映了基因异质性，这可能部分解释了基因连锁研究结果中的不一致性。必须描述受影响多重家庭成员的临床细节，以便能够正确解释不同研究之间基因结果的比较。
