非症状患者SPG4突变(P7.191)

文摘

目的:探讨SPG4-HSP非症状的频率和严重程度,尤其是疲劳、疼痛、抑郁和日间极度嗜睡。背景:SPG4基因的突变是最常见的遗传性痉挛性截瘫原因(HSP)。SPG4-HSP特点是缓慢渐进痉挛状态和软弱的腿。额外的非症状在偶尔SPG4-HSP患者已报告,但没有这样的表现已经完成的系统评价。设计/方法:患者27分子确认SPG4-HSP从3中心在巴西南部和26岁和sex-matched健康对照组回答修改后的疲劳影响规模(小额信贷机构),埃普沃思嗜睡量表(ESS)、血管(视觉模拟的规模)和贝克抑郁(BDI)库存。痉挛性截瘫评定量表(spr)被用来量化疾病严重程度。我们学生的学习任务比较组和皮尔森系数调查可能的临床参数之间的相关性。P值< 0.05被认为是重要的。结果:患者的平均年龄为48.0±13.8岁,意味着spr得分为19.5±11.6,有16人。患者SPG4-HSP比控制有更严重的疲劳(小额信贷机构:31.3±14.9 vs 14.9±15.4, p < 0.001)。 Physical and psychosocial subscores of MFIS were higher in the patient group (p<0.001), but not cognitive subscores (p=0.98). Mean VAS score was significantly higher among patients (2.6±2.08 vs 1.1±2.0, p=0.02). Depressive symptoms were more severe among patients (12.5±8.9 vs 4.3±4.0, p<0.001), but even in this group scores were not remarkable. There was no difference between groups regarding daytime sleepiness (p=0.77). Motor disability presented a correlation with fatigue (r=0.385, p=0.04) but not with pain (p=0.267). Conclusions: Fatigue and pain are frequent manifestations in SPG4-HSP. They are often severe, and at least in part, explained by the motor disability. Neurologists should actively investigate and treat these non-motor manifestations.

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