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世界核心医学期刊文摘（神经病学分册） 2005年第6期1卷 1-1页

作者： Willer c.J. Dyment D.A. Sadovnick A.D. g.c. ebers 黄卫东 Department of clinical Neurology Radcliffe Infirmary University of Oxford Oxford OX2 6HE United Kingdom Prof.

Objectives: To determine if risk of multiple sclerosis (MS) is associated with month of birth in countries in the northern hemisphere and if factors related to month of birth interact with genetic risk. Design: Population based study with population and family based controls and a retrospective cohort identified from death certificates. A post hoc pooled analysis was carried out for large northern datasets including Sweden and Denmark. Setting 19 MS clinics in major cities across canada (canadian collaborative project on the genetic susceptibility to multiple sclerosis); incident cases of MS from a population based study in the Lothian and Border regions of Scotland; and death records from the UK Registrar general. Populations: 17 874 canadian patients and 11 502 British patients with multiple sclerosis. Main outcome measure: Diagnosis of multiple sclerosis. Results: In canada (n=17 874) significantly fewer patients with MS were born in November compared with controls from the population census and unaffected siblings. These observations were confirmed in a dataset of British patients (n=11 502), in which there was also an increase in the number of births in May. A pooled analysis of datasets from canada, great Britain, Denmark, and Sweden (n=42 045) showed that significantly fewer (805% ) people with MS were born in November and significantly more (9.1% ) were born in May. For recent incident data, the effect of month of birth was most evident in Scotland, where MS prevalence is the highest. conclusions: Month of birth and risk of MS are associated, more so in familial cases, implying interactions between genes and environment that are related to climate. Such interactions may act during gestation or shortly after birth in individuals born in the northern countries studied.

关键词：多发性硬化症出生时间遗传易感性回顾性队列研究全国主要城市病例对照研究注册登记协作计划锡安出生后

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一项关于多发性硬化症自然病史的地区研究之九:对疾病进展阶段的观察

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世界核心医学期刊文摘(神经病学分册) 2006年第8期 36-36页

作者： Kremenchutzky M. Rice g.P.A. Baskerville J. g.c. ebers 赵天智 Department of clinical Neurology University of Oxford Radcliffe Infirmary Woodstock Road Oxford OX2 6HE United Kingdom Prof.

The clinical features of relapses and progression largely define multiple sclerosis phenotypes. A relapsing.c.urse is followed by chronic progression in some 80% of cases within 2 decades. The relationship between these phases and long- term outcome remains uncertain. We have analysed these clinical features within a well- studied natural history cohort with mean follow- up of 25 years. For the entire cohort, median times to reach Disability Status Scale (DSS) 6, 8 and 10 were 12.7, 20.6 and 43.9 years, respectively. Among 824 attack- onset patients, the great majority entered a progressive phase with a mean time to progression of 10.4 years. The effects of relapses often cloud the clinical onset of progression. However, there are circumstances where onset of progression is early, relatively discrete and identifiable at DSS of 2 or less. Three subgroups allow for clarity of outcome comparison and they are (i) cases of primary progressive (PP) disease, (ii) attack- onset disease where only a single attack has occurred before onset of progression (SAP) and (iii) secondary progressive (SP) disease where recovery from relapses allows recognition of the earliest clinical stages when progression begins. Here we compare survival curves in these three groups. Among.c.horts of SAP (n = 140), PP (n = 219) and SP (n = 146) where progression was stratified by DSS at its onset, there was no difference in time to DSS 6, 8 and 10. These findings demonstrate that the progressive course is independent of relapses either preceding the onset of relapse- free progression or subsequent to it. Among SAP patients, the degree of recovery from the single defining exacerbation had no significant effect on outcome. The site of the original attack was not usually where progression began. The relatively stereotyped nature of the progressive phase seen in all progressive phenotypes suggests regional and/or functional differential susceptibility to a process that appears degenerative in nature. T

关键词：多发性硬化症得分 DSS 队列患者 SP PP 自然病史进展型

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继子(女)的多发性硬化症患者:复发风险和谱系调查法

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世界核心医学期刊文摘（神经病学分册） 2006年第6期2卷 36-36页

作者： Dyment D.A. Yee I.M.L. ebers g.c. Sadovnick A.D. 陈孝东 University of British columbia Detwiller Pavillion UBC Hospital Vancouver BC V6T 2B5 Canada Prof.

Reports implicating specific transmissible agents in multiple sclerosis (MS) susceptibility continue to appear. We therefore re-evaluated MS risk in 687 stepsiblings of 19 746 MS index cases. We found the risk of MS to be indistinguishable from that of the general population after diagnostic verification. These results are coherent with studies of adopted children, half siblings and conjugals, showing no risk attributable to the familial microenvironment. This family based genetic epidemiolog.c.l approach found no trace of transmissibility other than genetic from one affected individual to another in the high prevalence area of canada. This adds to existing data showing that the action of environment in influencing MS risk is operative at a population level.

关键词：多发性硬化症复发风险患病风险流行病学方法遗传方式研究发现流行地区

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