Chio A, Brignolio F, Meineri P, Schiffer D
Acta Neurol Scand. 1987 Apr;75(4):277-82. doi: 10.1111/j.1600-0404.1987.tb07933.x.
Twenty-seven cases of hereditary amyotrophic lateral sclerosis (ALS), belonging to 8 families, are reported. The analysis of the pedigrees suggests an autosomal dominant transmission, apparently with incomplete penetration. The mean age at onset of symptoms was 50.3 (SD 12.4) years. The mean duration of the disease was 31.2 (SD 20.4) months, ranging from 9 to 86. The median survival time was 24 months. The degree of variation of some quantitative characters, both within and among families, was statistically analyzed. The results support the hypothesis of a phenotypic and genetic heterogeneity of autosomal dominant transmitted ALS.
报告了来自8个家族的27例遗传性肌萎缩侧索硬化症（ALS）病例。系谱分析表明为常染色体显性遗传，显然存在不完全外显。症状出现的平均年龄为50.3（标准差12.4）岁。疾病的平均持续时间为31.2（标准差20.4）个月，范围从9个月至86个月。中位生存时间为24个月。对一些数量性状在家族内和家族间的变异程度进行了统计学分析。结果支持常染色体显性遗传的ALS存在表型和遗传异质性的假说。
