Dimitrijevic M R, Lenman J A, Prevec T, Wheatly K
J Neurol Neurosurg Psychiatry. 1982 Jan;45(1):46-9. doi: 10.1136/jnnp.45.1.46.
A family is described in which affected members have clinical features consistent with the late onset form of Strümpell's Familial Spastic Paraplegia which is of dominant inheritance. Abnormalities in cortical somatosensory to peroneal nerve stimulation were found in all affected members of the family and in several who were clinically unaffected. In some cases responses were better defined at slow rates of stimulation. Peripheral nerve conduction velocity was normal. These changes are consistent with previous findings of degeneration in the posterior columns at necroscopy and with a dying back process in the first sensory neuron. Clinically unaffected members of the family with abnormalities in the somatosensory response may represent asymptomatic heterozygotes.
本文描述了一个家族,其中受影响的成员具有与斯特鲁佩尔家族性痉挛性截瘫晚发型一致的临床特征,该病为显性遗传。在该家族所有受影响的成员以及几名临床未受影响的成员中,均发现皮质体感对腓总神经刺激存在异常。在某些情况下,缓慢刺激速率时反应更清晰。周围神经传导速度正常。这些变化与尸检时后柱退变的先前发现以及第一感觉神经元的逆行性变性过程一致。家族中体感反应异常但临床未受影响的成员可能代表无症状杂合子。