Ahmed M A, Reid E, Cooke A, Arngrímsson R, Tolmie J L, Stephenson J B
Department of Paediatric Neurology and Child Development, Royal Hospital for Sick Children, Glasgow, UK.
J Neurol Neurosurg Psychiatry. 1996 Dec;61(6):616-20. doi: 10.1136/jnnp.61.6.616.
Clinical and genetic characterisation of families in the west of Scotland with familial hemiplegic migraine.
Families with familial hemiplegic migraine were identified via probands attending the regional paediatric neurology and child development centre. All available family members were assessed clinically and genetic linkage studies for the known familial hemiplegic migraine gene locus on chromosome 19 were carried out on three families.
Seven unrelated kindreds with familial hemiplegic migraine were identified. Clinical information was obtained on 138 family members, 27 of whom fulfilled the International Headache Society criteria for familial hemiplegic migraine. Whereas the severity, duration, frequency, and temporal progression of acute hemiplegic migrainous attacks showed pronounced variability within and between families, and even in the same individual over time, no true clinical heterogeneity of the condition was apparent. Genetic linkage analysis gave results consistent with linkage to the familial hemiplegic migraine gene locus on chromosome 19p in one family. In the other two families, evidence against linkage was obtained. There was no significant clinical difference between these three families.
This study provides characterisation of the clinical features of familial hemiplegic migraine in a British population. Significant variability was found in the frequency and character of migraine attacks within and between families, and no true clinical heterogeneity was identified. On the other hand, further evidence for genetic heterogeneity of the condition was found.
对苏格兰西部患有家族性偏瘫性偏头痛的家庭进行临床和基因特征分析。
通过前往地区儿科神经学和儿童发育中心就诊的先证者来确定患有家族性偏瘫性偏头痛的家庭。对所有可及的家庭成员进行临床评估，并对三个家庭进行了针对19号染色体上已知家族性偏瘫性偏头痛基因位点的基因连锁研究。
识别出7个与家族性偏瘫性偏头痛无关的家族。获取了138名家庭成员的临床信息，其中27人符合国际头痛协会的家族性偏瘫性偏头痛标准。尽管急性偏瘫性偏头痛发作的严重程度、持续时间、频率和时间进程在家族内部和家族之间，甚至在同一个体随时间变化时都表现出显著差异，但该病症并无明显的真正临床异质性。基因连锁分析结果显示，一个家族与19号染色体短臂上的家族性偏瘫性偏头痛基因位点连锁。在另外两个家族中，获得了排除连锁的证据。这三个家族之间没有显著的临床差异。
本研究对英国人群中家族性偏瘫性偏头痛的临床特征进行了描述。发现偏头痛发作的频率和特征在家族内部和家族之间存在显著差异，且未识别出真正的临床异质性。另一方面，发现了该病症基因异质性的进一步证据。
