Ionasescu V, Searby C, Rubenstein P, Sandra A, Cancilla P, Robillard J
J Neurol Neurosurg Psychiatry. 1983 Jun;46(6):551-4. doi: 10.1136/jnnp.46.6.551.
A 14-year-old boy had progressive weakness and ataxia since two years of age with tightly curled hair, facial diplegia, distal weakness and hypaesthesia, cerebellar syndrome and normal intelligence. He also had distal renal tubular acidosis manifested by metabolic acidosis. Sural nerve ultrastructure showed numerous giant axons packed with neurofilaments. The neurofilament major proteins of 68 000, 160 000 and 210 000 daltons found in normal sural nerve were also present in the diseased nerve indicating that the protein composition of neurofilaments which accumulates in this disorder has not been appreciably altered. The amount of 68 000 dalton neurofilament protein was two times higher in giant axonal neuropathy nerve than in the control nerve. Our results suggest that the neurofibrillary pathology in giant axonal neuropathy is due to a build-up of normal neurofilaments.
一名14岁男孩自两岁起出现进行性肌无力和共济失调，伴有头发紧密卷曲、双侧面瘫、远端肌无力和感觉减退、小脑综合征，智力正常。他还患有以代谢性酸中毒为表现的远端肾小管酸中毒。腓肠神经超微结构显示大量充满神经丝的巨大轴突。在正常腓肠神经中发现的68000、160000和210000道尔顿的神经丝主要蛋白在患病神经中也存在，这表明在这种疾病中积累的神经丝的蛋白质组成没有明显改变。巨大轴索性神经病神经中68000道尔顿神经丝蛋白的含量比对照神经高两倍。我们的结果表明，巨大轴索性神经病中的神经原纤维病理是由于正常神经丝的积累所致。
