The risk to relatives of patients with sporadic amyotrophic lateral sclerosis.
The risk to relatives of patients with sporadic amyotrophic lateral sclerosis.
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DOI：
10.1093/brain/awr248
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发表时间：
2011-12
期刊：
影响因子：
--
通讯作者：
Al-Chalabi A
中科院分区：
文献类型：
--
作者：
Hanby MF;Scott KM;Scotton W;Wijesekera L;Mole T;Ellis CE;Leigh PN;Shaw CE;Al-Chalabi A
肌萎缩侧索硬化症是一种运动神经元的神经退行性疾病，中位生存期为2年。大多数患者没有肌萎缩侧索硬化症的家族史，但目前对此类疾病的了解表明亲属的风险应该增加。此外，这是一个常见的问题，被问到的病人和亲属在临床上。因此，我们着手确定肌萎缩性侧索硬化症的风险，一级亲属的散发性肌萎缩性侧索硬化症患者参加专科诊所。我们回顾了16年来在三级转诊中心就诊的散发性肌萎缩侧索硬化症患者的病例记录，并提取了谱系结构。所有最初表现为散发性肌萎缩侧索硬化症，但随后有一级亲属受影响的个体均被确定。使用临床人群人口统计学进行年龄调整后进行计算。确定了先证者（n = 1502）、全同胞（n = 1622）和全后代（n = 1545）。其中8名兄弟姐妹和18名后代患有肌萎缩侧索硬化症。在观察期内，兄弟姐妹和后代患肌萎缩侧索硬化症的未校正风险分别为0.5%和1.0%。476名兄弟姐妹和824名后代的年龄信息可用。对于该亚组，肌萎缩侧索硬化的粗发病率在兄弟姐妹中为每年0.11%（0.05-0.21%），在后代中为每年0.11%（0.06-0.19%），兄弟姐妹中的临床年龄校正发病率为每年0.12%（0.04-0.21%）。到85岁时，与背景人群相比，兄弟姐妹患肌萎缩侧索硬化症的风险增加了8倍。实际上，这意味着85岁时不受影响的风险从99.7%下降到97.6%。散发性肌萎缩侧索硬化症患者的亲属有一个小的，但肯定的风险增加受到影响。
Amyotrophic lateral sclerosis is a neurodegenerative disease of motor neurons with a median survival of 2 years. Most patients have no family history of amyotrophic lateral sclerosis, but current understanding of such diseases suggests there should be an increased risk to relatives. Furthermore, it is a common question to be asked by patients and relatives in clinic. We therefore set out to determine the risk of amyotrophic lateral sclerosis to first degree relatives of patients with sporadic amyotrophic lateral sclerosis attending a specialist clinic. Case records of patients with sporadic amyotrophic lateral sclerosis seen at a tertiary referral centre over a 16-year period were reviewed, and pedigree structures extracted. All individuals who had originally presented with sporadic amyotrophic lateral sclerosis, but who subsequently had an affected first degree relative, were identified. Calculations were age-adjusted using clinic population demographics. Probands (n = 1502), full siblings (n = 1622) and full offspring (n = 1545) were identified. Eight of the siblings and 18 offspring had developed amyotrophic lateral sclerosis. The unadjusted risk of amyotrophic lateral sclerosis over the observation period was 0.5% for siblings and 1.0% for offspring. Age information was available for 476 siblings and 824 offspring. For this subset, the crude incidence of amyotrophic lateral sclerosis was 0.11% per year (0.05–0.21%) in siblings and 0.11% per year (0.06–0.19%) in offspring, and the clinic age-adjusted incidence rate was 0.12% per year (0.04–0.21%) in siblings. By age 85, siblings were found to have an 8-fold increased risk of amyotrophic lateral sclerosis, in comparison to the background population. In practice, this means the risk of remaining unaffected by age 85 dropped from 99.7% to 97.6%. Relatives of people with sporadic amyotrophic lateral sclerosis have a small but definite increased risk of being affected.
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