Kohno Y, Yoshizawa T, Ohkoshi N, Tamaoka A, Shoji S
Department of Neurology, Institute of Clinical Medicine, University of Tsukuba.
Rinsho Shinkeigaku. 2001 Jan;41(1):36-9.
A 35-year old Japanese male with adult Sandhoff disease was described, who was presented as a motor neuron disease phenotype with slow progression. At the age of 15, he first noticed weakness in his thigh. At the age of 28, his upper and lower motor neuron disturbances were disclosed. He was diagnosed as atypical amyotrophic lateral sclerosis. At the age of 34, a slight sensory disturbance appeared in the lower extremities. When he was admitted to our hospital, he displayed marked atrophy and weakness in his quadriceps femoris muscles, but no signs of mental deterioration and cerebellar ataxia. Because of the atypical course of motor neuron disease, hexosaminidase activity in peripheral leukocytes was determined. The assay of total hexosaminidase, hexosaminidase A and hexosaminidase B activities demonstrated low levels of these activities (7-15% of controls), leading the diagnosis of Sandoff disease. He was a member of non-consanguineous family, and the abnormal patterns of hexasaminidase activities were different between his father and mother. These data appear to show that he is a compound heterozygote in the locus of the hexosaminidase B gene. This is the first Japanese case of adult Sanhoff disease presented as a motor neuron disease phenotype.
报道了一名35岁患有成人型桑德霍夫病的日本男性，其表现为运动神经元病表型且进展缓慢。15岁时，他首次注意到大腿无力。28岁时，其上下运动神经元出现障碍，被诊断为非典型肌萎缩侧索硬化。34岁时，下肢出现轻微感觉障碍。入院时，他股四头肌明显萎缩且无力，但无精神衰退和小脑共济失调的迹象。由于运动神经元病病程不典型，测定了外周血白细胞中的己糖胺酶活性。总己糖胺酶、己糖胺酶A和己糖胺酶B活性检测显示这些活性水平较低（为对照的7 - 15%），从而诊断为桑德霍夫病。他来自非近亲家庭，其父母的己糖胺酶活性异常模式不同。这些数据似乎表明他在己糖胺酶B基因位点是复合杂合子。这是首例表现为运动神经元病表型的日本成人桑德霍夫病病例。
