Hestnes A, Mellgren S I
Acta Neurol Scand. 1980 Mar;61(3):192-9.
Familial occurrence of neuromuscular disease similar to sporadic amyotrophic lateral sclerosis has been reported from several countries. A Norwegian family with muscular wasting in men and women of three generations is described. The propositus and his father's sister were examined, as well as a second cousin of the propositus. The disease was characterized by late onset, predominantly upper limb peripheral pareses, and "pyramidal" signs in the lower extremities. Although peripheral neuromuscular affection in the lower limbs tended to be subclinical, chonchotome biopsies from the tibialis anterior muscle showed neurogenic atrophy in all three cases.
几个国家都报道过家族性发生的类似于散发性肌萎缩侧索硬化的神经肌肉疾病。本文描述了一个挪威家族，三代男性和女性均有肌肉萎缩。对先证者及其父亲的姐妹以及先证者的一个二级堂亲进行了检查。该疾病的特征为发病较晚，主要是上肢周围性轻瘫，以及下肢的“锥体束”征。虽然下肢的周围神经肌肉病变往往为亚临床性，但所有3例胫前肌的肌电图活检均显示神经源性萎缩。
