毛细血管扩张性共济失调患者的神经化学异常

• 作 者: 张朝正
• 出 处: 国外医学.神经病学神经外科学分册
• 发表日期: 1985年03期
• 关键词: 神经系 神经化学 毛细血管扩张 小脑性共济失调 免疫功能障碍 共济失调步态 生化异常 上呼吸道症状 含糊不清 上肢

毛细血管扩张性共济失调(A—T)系—常染色体隐性遗传,以小脑性共济失调、球结合膜毛细血管扩张、进行性病程和逐渐衰退为特征的神经系疾病。亦伴有不同程度的免疫功能障碍。作者报告1例患者脑尸检所见的神经生化异常。患者男性 9个月时抬头困难,后出现肌张力低和走路困难。1—4岁时流涎、共济失调步态、言语渐变坏、面部和球结合膜毛细血管扩张。9岁时只能在轮椅上活动,后有轻度上呼吸道症状。神经系症状逐渐恶化,言语含糊不清,头和上肢自发性

Telangiectasia ataxia (A-T) - autosomal recessive inheritance, neurological disorders characterized by cerebellar ataxia, telangiectasias, progressive processes and progressive decline. Also associated with varying degrees of immune dysfunction. The authors report a neurobiology abnormality seen in one patient with autopsy. Male patients 9 months of rise in difficulty, after low muscle tension and walking difficulties. 1-4 years old salivation, ataxia gait, bad speech, the face and the ball combined with telangiectasias. 9 years old can only wheelchair activities, mild upper respiratory symptoms. Nervous system symptoms worsen, verbal ambiguity, head and upper extremity spontaneity