Bottacchi E, Nemni R, Camerlingo M, Gambaro P, Corbo M, Mamoli A
Ital J Neurol Sci. 1985 Dec;6(4):513-6. doi: 10.1007/BF02331047.
A case of HMN, distal type transmitted as autosomal dominant is described. Clinical findings appear to be consistent with a peroneal muscular atrophy, indistinguishable from HMSN types I and II. The electrophysiological data reveal a pathological involvement of the anterior horns, whereas sensory and motor conduction are normal. A muscle biopsy showed neurogenic atrophy, while the morphology of the sural nerve was normal.
本文描述了一例常染色体显性遗传的远端型遗传性运动神经元病(HMN)病例。临床症状似乎与腓骨肌萎缩症一致,无法与I型和II型遗传性运动感觉神经病(HMSN)区分开来。电生理数据显示前角存在病理性病变,而感觉和运动传导正常。肌肉活检显示神经源性萎缩,而腓肠神经形态正常。