Veltema A N, Roos R A, Bruyn G W
Department of Neurology, Stichting Deventer Ziekenhuizen, Leiden, The Netherlands.
J Neurol Sci. 1990 Jun;97(1):93-115. doi: 10.1016/0022-510x(90)90101-r.
A pedigree is reported in which adult autosomal dominant ALS with complete penetrance manifested in 18 individuals through 6 generations. The clinical and neuropathological details are analysed of 13 and 5 persons, respectively, from the 2nd generation onward. Onset was between the ages 19 and 46; duration of disease averaged 1.7 years. The clinical symptoms were predominantly those of initial shoulder girdle and ultimate partial bulbar muscle involvement. Neuropathological findings included, next to classical features, degeneration of various spinal tracts (as revealed most clearly with the Häggqvist procedure) and Purkinje cells loss. As accurate clinicopathological screening and the use of more than just routine staining methods indicate, presently available MND/ALS classifications accommodate actual data insufficiently.
本文报告了一个家系，其中常染色体显性遗传性成人肌萎缩侧索硬化症（ALS）具有完全外显率，在6代人中的18个人身上表现出来。从第二代起，分别对13人和5人的临床及神经病理学细节进行了分析。发病年龄在19岁至46岁之间；疾病持续时间平均为1.7年。临床症状主要为最初的肩胛带和最终的部分延髓肌肉受累症状。神经病理学发现除了经典特征外，还包括各种脊髓束的变性（最明显通过哈格奎斯特方法显示）和浦肯野细胞丢失。正如准确的临床病理筛查以及不仅仅使用常规染色方法所表明的，目前可用的运动神经元病/ALS分类对实际数据的容纳不足。
