Lerman-Sagie T, Filiano J, Smith D W, Korson M
Division of Genetics, Inborn Errors of Metabolism Service, Harvard Medical School, Boston, MA, 02115, USA.
J Child Neurol. 1996 Jan;11(1):54-7. doi: 10.1177/088307389601100114.
Primary lateral sclerosis and hereditary spastic paraparesis are both rare neurodegenerative disorders characterized by progressive weakness and spasticity of the lower limbs, with involvement of the corticospinal tracts and sparing of anterior horn cells. We describe a consanguineous family in which three sons developed progressive paralysis of the lower extremities in infancy with subsequent involvement of the upper extremities and bulbar muscles but cognitive sparing. This family presents the nosologic difficulty of distinguishing between hereditary spastic paraparesis and primary lateral sclerosis. We suggest that the diagnosis in this family is hereditary primary lateral sclerosis. This is the first instance of familial occurrence of primary lateral sclerosis.
原发性侧索硬化症和遗传性痉挛性截瘫均为罕见的神经退行性疾病，其特征为下肢进行性无力和痉挛，累及皮质脊髓束，而前角细胞未受累。我们描述了一个近亲家庭，其中三个儿子在婴儿期出现下肢进行性麻痹，随后上肢和延髓肌肉受累，但认知功能未受影响。这个家庭在区分遗传性痉挛性截瘫和原发性侧索硬化症方面存在诊断困难。我们认为这个家庭的诊断为遗传性原发性侧索硬化症。这是原发性侧索硬化症家族性发病的首例。
