NERVE CONDUCTION STUDIES IN SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (SPOAN) SYNDROME
NERVE CONDUCTION STUDIES IN SPASTIC PARAPLEGIA, OPTIC ATROPHY, AND NEUROPATHY (SPOAN) SYNDROME
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DOI：
10.1002/mus.24087
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发表时间：
2014-01-01
期刊：
影响因子：
3.4
通讯作者：
Kok, Fernando
中科院分区：
文献类型：
--
作者：
Amorim, Simone;Heise, Carlos Otto;Kok, Fernando
简介：SPOAN（痉挛性截瘫、视神经萎缩和神经病）综合征是一个巴西大家族中发现的常染色体隐性遗传神经退行性疾病。研究方法：27例SPOAN综合征患者（20例女性），年龄4-58岁，接受了正中神经、尺神经、胫神经和腓神经的神经传导研究（NCS），以及正中神经、尺神经、桡神经、腓肠神经和腓浅神经的感觉NCS。结果：下肢感觉神经动作电位缺失，上肢感觉神经动作电位缺失率>80%。运动型NCS的上肢振幅和临界速度降低，下肢无复合肌肉动作电位（CMAPs）。结论：SPOAN综合征的神经病变是一种严重的、早发型的感觉-运动轴索性多发性神经病。正常的NCS似乎排除了这种情况。肌肉神经49：131-133，2014
Introduction: SPOAN (spastic paraplegia, optic atrophy, and neuropathy) syndrome is an autosomal recessive neurodegenerative disorder identified in a large consanguineous Brazilian family. Methods: Twenty-seven patients with SPOAN syndrome (20 women), aged 4-58 years, underwent nerve conduction studies (NCS) of the median, ulnar, tibial, and fibular nerves, and sensory NCS of the median, ulnar, radial, sural, and superficial fibular nerves. Results: Sensory nerve action potentials were absent in the lower limbs and absent in >80% of upper limbs. Motor NCS had reduced amplitudes and borderline velocities in the upper limbs and absent compound muscle action potentials (CMAPs) in the lower limbs. Conclusions: The neuropathy in SPOAN syndrome is a severe, early-onset sensory-motor axonal polyneuropathy. Normal NCS seem to rule-out this condition. Muscle Nerve49: 131-133, 2014