Horton W A, Eldridge R, Brody J A
Neurology. 1976 May;26(5):460-5. doi: 10.1212/wnl.26.5.460.
Based on a clinical, pathologic, and genetic study of 14 families, at least three types of familial motor neuron disease can be distinguished, all apparently of autosomal dominant transmission. The first is characterized by rapid, progressive loss of motor function with predominantly lower motor neuron manifestations and a course lasting less than 5 years. Pathologic changes are limited to the anterior horn cells and pyramidal tracts. The second type is clinically identical to the first, but at autopsy additional changes are found in the posterior columns, Clarke's column, and spinocerebellar tracts. The third type is characterized by a much longer survival usually beyond 10 and after more than 20 years in affected family members but is otherwise similar to the second type.
基于对14个家族的临床、病理及遗传学研究，至少可区分出三种类型的家族性运动神经元病，它们显然均为常染色体显性遗传。第一种类型的特征是运动功能迅速进行性丧失，主要表现为下运动神经元症状，病程持续不到5年。病理改变局限于前角细胞和锥体束。第二种类型在临床上与第一种相同，但尸检时发现后索、克拉克柱和脊髓小脑束有额外改变。第三种类型的特征是存活时间长得多，受影响家族成员通常超过10年，甚至超过20年，但在其他方面与第二种类型相似。
