Webb S, Coleman D, Byrne P, Parfrey N, Burke T, Hutchinson J, Hutchinson M
Department of Neurology, St Vincent's Hospital, Dublin, Ireland.
Brain. 1998 Apr;121 ( Pt 4):601-9. doi: 10.1093/brain/121.4.601.
A family initially considered to have 'pure' autosomal dominant hereditary spastic paraparesis (HSP), was found on neuropsychological testing to have evidence of late onset cognitive impairment. This family showed genetic linkage to the SPG4 locus on chromosome 2p previously reported for pure HSP. Of 56 living members, 44 were examined, 30 of whom were > 30 years of age and 12 members were found to be affected with HSP including four asymptomatic cases. One other family member (III-5), aged 62 years, died prior to this study of a 4-year dementing illness. Neuropsychological assessment of 11 affected members and 11 matched, unaffected, family controls showed no significant differences between the two groups. However, the neuropsychological test profile in four of 11 affected members tested (mean age 47.2 years) and one of 11 family controls (mean age 41.5 years) showed global cognitive impairment. The pattern of cognitive dysfunction was the same for all five family members identified and was similar to that found in subcortical dementia. The presence of cognitive impairment appeared to be related to age and not the severity of the paraplegia. Both the severity of the paraplegia and the age of onset (21-60 years) varied considerably in this family.
一个最初被认为患有“纯”常染色体显性遗传性痉挛性截瘫（HSP）的家族，经神经心理学测试发现有迟发性认知障碍的证据。该家族显示出与先前报道的纯HSP的2号染色体p臂上的SPG4位点存在基因连锁。在56名在世成员中，44人接受了检查，其中30人年龄超过30岁，12名成员被发现患有HSP，包括4例无症状病例。另一名62岁的家族成员（III-5）在本研究之前死于一种为期4年的痴呆症。对11名受影响成员和11名匹配的未受影响的家族对照进行神经心理学评估，结果显示两组之间没有显著差异。然而，在接受测试的11名受影响成员中的4名（平均年龄47.2岁）和11名家族对照中的1名（平均年龄41.5岁）的神经心理学测试结果显示存在整体认知障碍。所有5名确定的家族成员的认知功能障碍模式相同，且与皮质下痴呆中发现的模式相似。认知障碍的存在似乎与年龄有关，而非截瘫的严重程度。在这个家族中，截瘫的严重程度和发病年龄（21 - 60岁）差异很大。
