Sigmundsdottir Linda, Tchan Michel C, Knopman Alex A, Menzies Graham C, Batchelor Jennifer, Sillence David O
Department of Psychology, Macquarie University, Sydney, Australia
Department of Genetic Medicine, Westmead Hospital and Discipline of Genetic Medicine, Sydney Medical School, Sydney, Australia.
Arch Clin Neuropsychol. 2014 Nov;29(7):642-50. doi: 10.1093/arclin/acu047.
Fabry disease is an X-linked lysosomal storage disorder which can result in renal, cardiac, and cerebrovascular disease. Patients are at increased risk of stroke and neuroimaging studies note cerebrovascular pathology. This study provides a cognitive profile of a cohort of individuals with Fabry disease and investigates the impact of pain, age, renal, cardiac, and cerebrovascular functioning on cognition and psychological functioning. Seventeen Fabry patients (12 males) with ages ranging 25 to 60 years (M = 46.6+11.8), and 15 age-matched healthy controls (M = 46.2+12.7) were administered a comprehensive neuropsychological battery. Fabry males demonstrated slower speed of information processing, reduced performance on measures of executive functions (verbal generation, reasoning, problem solving, perseveration), were more likely to show clinically significant reductions, and were more likely to report symptoms of anxiety and depression. Conversely, Fabry females performed at a similar level to controls. Correlational analyses indicated a link between cognitive and clinical measures of disease severity.
法布里病是一种X连锁溶酶体贮积症，可导致肾脏、心脏和脑血管疾病。患者中风风险增加，神经影像学研究提示存在脑血管病变。本研究提供了一组法布里病患者的认知概况，并调查了疼痛、年龄、肾脏、心脏和脑血管功能对认知及心理功能的影响。对17名年龄在25至60岁（平均年龄=46.6±11.8）的法布里病患者（12名男性）和15名年龄匹配的健康对照者（平均年龄=46.2±12.7）进行了全面的神经心理学测试。法布里病男性患者表现出信息处理速度较慢，执行功能（言语生成、推理、问题解决、持续现象）测试成绩降低，更有可能出现具有临床意义的降低，且更有可能报告焦虑和抑郁症状。相反，法布里病女性患者的表现与对照者相似。相关性分析表明疾病严重程度的认知指标与临床指标之间存在关联。
