Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency.
Electrophysiology and nerve biopsy: comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency.
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电生理学和神经活检：弗里德赖希共济失调和维生素 E 缺乏症弗里德赖希共济失调表型的比较研究。
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发表时间：
1998
期刊：
影响因子：
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通讯作者：
F. Hentati
中科院分区：
文献类型：
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作者：
M. Zouari;M. Feki;C. Ben Hamida;A. Larnaout;I. Turki;S. Belal;A. Mebazaa;M. Ben Hamida;F. Hentati
作者报告了15例弗里德赖希共济失调患者和15例选择性维生素E缺乏的弗里德赖希共济失调表型患者的周围神经传导、神经活检和体感诱发电位的比较研究。两组患者年龄、发病年龄、临床表型相近。两组外周运动神经动作电位振幅、传导速度均在正常范围内。在弗里德赖希共济失调组中，存在早期和严重的外周感觉轴索神经病变，其特征是感觉动作电位幅度的显著降低，髓鞘纤维的严重丧失，大髓鞘纤维完全消失，没有任何再生过程。弗里德赖希共济失调伴选择性维生素E缺乏症组有轻度至中度轴突感觉神经病变，大髓鞘纤维密度正常至中度减少，神经活检显示重要的再生。体感诱发电位在两组中明显参与，表明腰、胸、颈脊髓的体感通路严重受累。这些发现提示两种疾病的病理机制不同：弗里德赖希共济失调的中枢性外周轴索病和选择性维生素E缺乏弗里德赖希共济失调表型的中枢性远端轴索病。
The authors report a comparative study of peripheral nerve conductions and nerve biopsy and somatosensory evoked potentials between 15 patients with Friedreich's ataxia and 15 patients with Friedreich's ataxia phenotype with selective vitamin E deficiency. The patients in the two groups are of similar age, age of onset, and clinical phenotype. Peripheral motor nerve action potential amplitude, and conduction velocities are within normal ranges in the two groups. In the Friedreich's ataxia group there is an early and severe peripheral sensory axonal neuronopathy, characterised by an important reduction of the amplitude of sensory action potential, and important loss of myelinated fibres with complete disappearance of large myelinated fibres without any regenerative process. In the Friedreich's ataxia phenotype with selective vitamin E deficiency group there is slight-to-moderate axonal sensory neuropathy with normal to moderate decrease of large myelinated fibre density and important regeneration in nerve biopsy. Somatosensory evoked potentials are markedly involved in the two groups asserting a severe involvement of somatosensory pathway in lumbar, thoracic and cervical spinal cord. These findings suggest that the pathological mechanism involved in the two diseases are different: central peripheral axonopathy in Friedreich's ataxia and central distal axonopathy in Friedreich's ataxia phenotype with selective vitamin E deficiency.