Giménez-Roldán S, Esteban A
Arch Neurol. 1977 Nov;34(11):706-8. doi: 10.1001/archneur.1977.00500230076013.
Two different forms of hereditary amyotrophic lateral sclerosis (ALS) has been separated according to duration of illness. A rapid course with short survival as seen in sporadic ALS is usual, but a comparatively benign type with a mean survival of 12 years has been reported in some families. Four patients from an ALS-afflicted family with five affected members in three generations were examined and then followed up. A conspicuous variability in progression among the patients was observed, with death occurring from 26 months to 12 years after onset; one patient is alive 13 years after onset. Wide differences were also found with respect to initial site of involvement and pyramidal tract signs. Three other families with this mixed pattern of prognosis have been reported previously. Affected individuals within involved families had either short or long duration of the disease, rather than displaying a continuum. However, in view of the existence of a type of hereditary ALS with marked intrafamilial variability, prognosis, even in the presence of previous benign cases, should be cautiously given.
根据病程，遗传性肌萎缩侧索硬化症（ALS）已被分为两种不同类型。散发性ALS通常病程进展迅速，生存期短，但在一些家族中也报道过一种相对良性的类型，平均生存期为12年。对一个三代中有五名成员患病的ALS家族中的四名患者进行了检查并随访。观察到患者之间的病情进展存在显著差异，发病后26个月至12年死亡；一名患者发病后13年仍存活。在受累部位和锥体束征的初始部位方面也发现了很大差异。此前还报道过另外三个具有这种混合预后模式的家族。受累家族中的患病个体病程有长有短，并非呈现连续变化。然而，鉴于存在一种家族内变异明显的遗传性ALS类型，即使有既往良性病例，预后也应谨慎判断。
