Caruso G, Santoro L, Perretti A
Dipartimento di Patologia Sistematica, 2a Facoltà di Medicina e Chirurgia, Napoli.
Acta Neurol (Napoli). 1992 Aug-Dec;14(4-6):345-62.
An electrophysiological study, comprehensive of peripheral sensory and motor conduction velocity (SCV, MCV), motor cortical stimulation (CS), median nerve somatosensory evoked potentials (SSEPs), brainstem evoked potentials (BAEPs) and sural nerve biopsy, was performed on 100 hereditary ataxia patients: 48 with Friedreich's ataxia (FA), 18 with Early Onset Cerebellar Ataxia (EOCA) and 34 with Autosomal Dominant Cerebellar Ataxia (ADCA). An early "peripheral" and "central" sensory impairment was observed in FA probably due to axonal loss and not related to disease severity or duration. On the contrary, BAEP and CS findings suggested a progressive involvement of the auditory and motor pathways. The presence of a non progressive sensory neuropathy allowed a distinction of EOCA patients in two groups: with and without peripheral neuropathy. The clinical and genetic heterogeneity was confirmed by the variability of evoked potential results. The ADCA patients showed the mildest degree of electrophysiologic abnormalities with an involvement of the peripheral pathways, both sensory and motor, more frequent than the central ones.
对100例遗传性共济失调患者进行了一项电生理研究,该研究包括外周感觉和运动传导速度(SCV、MCV)、运动皮质刺激(CS)、正中神经体感诱发电位(SSEPs)、脑干诱发电位(BAEPs)以及腓肠神经活检:48例弗里德赖希共济失调(FA)患者、18例早发性小脑共济失调(EOCA)患者和34例常染色体显性小脑共济失调(ADCA)患者。在FA患者中观察到早期的“外周”和“中枢”感觉障碍,这可能是由于轴突丢失所致,且与疾病严重程度或病程无关。相反,BAEP和CS结果提示听觉和运动通路逐渐受累。存在非进行性感觉神经病变使得可以将EOCA患者分为两组:有外周神经病变和无外周神经病变。诱发电位结果的变异性证实了临床和基因的异质性。ADCA患者电生理异常程度最轻,外周通路(包括感觉和运动通路)受累比中枢通路更常见。