Clinical phenotypes and natural progression for motor neuron disease: Analysis from an Australian database
Clinical phenotypes and natural progression for motor neuron disease: Analysis from an Australian database
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DOI：
10.1080/17482960802195871
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发表时间：
2009-01-01
影响因子：
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通讯作者：
Mathers, Susan
中科院分区：
文献类型：
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作者：
Talman, Paul;Forbes, Andrew;Mathers, Susan
从1997年到2003年，我们前瞻性地跟踪观察了一组ALS/MND患者。患者被分配到预先确定的临床表型，使用修订的El Ecorial标准中建立的原则。仔细确定症状出现的日期和区域，并使用Aspecl ALS评定量表对其进展进行评分。四种不同的临床表型：全局型、连杆臂、连枷腿和原发性侧索硬化症(PLS)显示出显著不同的进展率和生存时间。全球ALS/MND表型可以在任何区域表现出最初的症状，并迅速进展到所有节段，症状是皮质脊髓束和前角细胞功能障碍的混合体。全球表型具有最短的生存期和最快的疾病进展速度。在球部起病和颈椎起病之间，存活率有显着差异，但根据Aspecl/ALS分级标准，三个全局亚组之间的疾病进展速度没有显着差异。与Global表型相比，Flail患者的进展速度要慢得多，生存时间也要长得多。与其他临床表型相比，与其他临床表型相比，原发性侧索硬化症患者进展最慢，存活时间最长。开发一种分配具有相似存活率和疾病进展率的临床表型的方法在治疗试验设计、实践基准和临床病理相关性方面进行了讨论。
From 1997 to 2003 we prospectively followed a cohort of ALS/MND patients. Patients were allocated to predetermined clinical phenotypes using the principles established in the modified El Escorial criteria. The date and region of symptom onset were carefully determined and their progression was scored using the Appel ALS rating scale. The four distinct clinical phenotypes: Global, Flail Arm, Flail Leg and Primary Lateral Sclerosis (PLS) demonstrated significantly different rates of progression and survival times. The Global ALS/MND phenotype can present with initial symptoms in any region and rapidly progresses to involve all segments, with symptoms due to a mixture of combined corticospinal tract and anterior horn cell dysfunction. The Global phenotype has the shortest survival and most rapid rate of disease progression. There was a significant difference in survival between Global bulbar onset and cervical onset disease but no significant difference in the rate of disease progression between the three Global subgroups as determined by the Appel/ALS rating scale. Flail patients had much slower rates of progression and significantly longer survival compared to the Global phenotype. Patients with Primary Lateral Sclerosis as expected progressed the slowest and survived the longest compared to the other clinical phenotypes. The utility of developing a method of assigning clinical phenotypes with similar survival and disease progression rates is discussed in relation to therapeutic trial design, practice benchmarking and clinico-pathological correlations.