Görke W, Grimm T
Neuropediatrics. 1986 Aug;17(3):162-4. doi: 10.1055/s-2008-1052519.
Two patients suffering from the stationary form of hereditary spastic paraplegia, father and son, are described. While in the father the disease - probably because of congenital clubfeet - led to flexion contractures of the hip- and knee-joints, the son in contrary showed extreme genua recurvata. In spite of these contradictionary findings, neurological examination of both patients led to the diagnosis of stationary form of hereditary spastic paraplegia. Both patients had normal latencies of their somatosensory evoked peroneal cortical potentials (Peron-SEP). It is known that the progredient form of the disease leads to alterations of the Peron-SEP. So it is the opinion of the authors that this electrodiagnostic aspect might allow to distinguish between the "pure" and the progredient form of the disease in less clear cases, if these findings can be confirmed in other sibships with the "pure" form of hereditary spastic paraplegia.
本文描述了两名患有遗传性痉挛性截瘫静止型的患者，父子二人。父亲的疾病——可能由于先天性马蹄内翻足——导致了髋关节和膝关节的屈曲挛缩，而儿子则表现为极度膝反屈。尽管有这些矛盾的发现，但对两名患者的神经学检查均诊断为遗传性痉挛性截瘫静止型。两名患者的体感诱发电位腓骨皮质电位（Peron-SEP）潜伏期均正常。已知该疾病的进行性形式会导致Peron-SEP改变。因此，作者认为，如果这些发现能在其他患有“纯”型遗传性痉挛性截瘫的同胞中得到证实，那么在不太明确的病例中，这一电诊断方面可能有助于区分疾病的“纯”型和进行性形式。
