Aggregation of neurodegenerative disease in ALS kindreds
Aggregation of neurodegenerative disease in ALS kindreds
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DOI：
10.1080/17482960802209664
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发表时间：
2009-01-01
影响因子：
--
通讯作者：
Hardiman, Orla
中科院分区：
文献类型：
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作者：
Fallis, Brooks A.;Hardiman, Orla
目的是调查神经退行性疾病肌萎缩侧索硬化症（ALS），帕金森病和痴呆症在爱尔兰ALS患者亲属的家族发生。进行了一项回顾性病例对照图回顾性研究，以提取2001年1月至2006年1月期间参加国家神经病学中心的爱尔兰ALS患者和对照组的神经家族史。总的来说，从197个ALS和235个普通神经学家系中提取了详细信息。使用复发风险，与非ALS对照组相比，ALS患者亲属中报告的lamda、ALS（一级=7.77）、帕金森病（一级=2.67）和痴呆症（一级=6.21）的频率更高。在散发性ALS激酶中，神经退行性疾病的存在不是均匀分布的。这项研究支持了神经退行性疾病在ALS家族中聚集的推测，并表明对一些神经退行性表型具有共同的遗传易感性。
The objective was to investigate the familial occurrence of the neurodegenerative condition amyotrophic lateral sclerosis (ALS), Parkinson's disease and dementia in the relatives of Irish ALS patients. A retrospective case control chart review study was conducted to extract the neurological family histories of Irish ALS patients and controls who attended the National Neurological Centre between January 2001 and January 2006. In total, details were extracted from 197 ALS and 235 general neurology pedigrees. Using the recurrence risk, lamda, ALS (1st degree=7.77), Parkinson's disease (1st degree=2.67) and dementia (1st degree=6.21) were reported more frequently in relatives of ALS patients compared to those of non-ALS controls. Within sporadic ALS kindreds, the presence of neurodegenerative disease was not uniformly distributed. This study supports the conjecture that neurodegenerative disease aggregates within ALS kindreds, and indicates a shared genetic susceptibility towards some neurodegenerative phenotypes.