Polo A, Teatini F, D'Anna S, Manganotti P, Salviati A, Dallapiccola B, Zanette G, Rizzuto N
Department of Neurological and Visual Sciences, Policlinico Borgo Roma, Verona, Italy.
J Neurol. 1996 May;243(5):388-92. doi: 10.1007/BF00868997.
Electrophysiological findings were studied in a family with spino-bulbar muscular atrophy (SBMA): the subjects were three male patients aged 58, 38 and 34 years and two female carriers aged 63 and 28 years. Diagnosis was proven at the molecular genetic level. Electromyography in the males showed spontaneous activity and neurogenic reorganization of the motor unit; motor nerve conduction was normal. Sensory action potentials were variably reduced in amplitude, but some were completely normal. Somatosensory evoked potentials, from both the upper and lower limbs, were invariably abnormal because involvement of the central pathways was observed. These findings are in agreement with histological investigations documenting lesions in the posterior columns. Brain-stem acoustic evoked potentials showed an increase in wave I latency. The electrophysiological data provide further evidence of the extent of sensory damage either in the central or the peripheral nervous system in SBMA patients, who otherwise have a constant clinical presentation of progressive motor neuron disease.
对一个患有脊髓延髓肌肉萎缩症（SBMA）的家族进行了电生理研究：受试者为三名男性患者，年龄分别为58岁、38岁和34岁，以及两名女性携带者，年龄分别为63岁和28岁。诊断在分子遗传学水平得到证实。男性的肌电图显示有自发活动和运动单位的神经源性重组；运动神经传导正常。感觉动作电位的幅度有不同程度降低，但有些完全正常。上肢和下肢的体感诱发电位均始终异常，因为观察到中枢通路受累。这些发现与记录后柱病变的组织学研究结果一致。脑干听觉诱发电位显示I波潜伏期延长。电生理数据进一步证明了SBMA患者中枢或周围神经系统感觉损伤的程度，而这些患者在其他方面具有进行性运动神经元疾病的恒定临床表现。
