Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene
Confirmation of subtle motor changes among presymptomatic carriers of the Huntington disease gene
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DOI：
10.1001/archneur.57.7.1040
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发表时间：
2000-07-01
影响因子：
--
通讯作者：
Foroud, T
中科院分区：
文献类型：
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作者：
Kirkwood, SC;Siemers, E;Foroud, T
目的：证实症状前扩张型亨廷顿病(HD)患者存在运动功能和反应时的细微变化。设计：一项病例对照、双盲研究，比较有HD风险的症状前基因携带者(PSGC)和非基因携带者(NGCs)。地点：中西部某综合临床研究中心医学和分子遗传科。研究对象：216名自述无症状且临床检查结果无明显HD的HD高危个体，包括PSGCs(n=61)和NGCs(n=155)。方法：采用分子检测方法测定HD基因CAG重复数。结果：在神经学检查中，PSGC在整体眼球运动功能、眼跳速度、视动性眼震、肢体舞动、肢体肌张力障碍等方面明显高于NGCS(P<0.05)。
Objective: To confirm that subtle changes in motor function and reaction time are present in presymptomatic individuals carrying the expanded Huntington disease (HD) allele.Design: A case-control, double-blind study comparing presymptomatic HD gene carriers (PSGCs)and non-gene carriers (NGCs) at risk for HD.Setting: The Department of Medical and Molecular Genetics at a general clinical research center in a midwestern city.Participants: Two hundred sixteen individuals at risk for HD who were asymptomatic by self-report and who did not have manifest HD on results of clinical examination, including PSGCs (n=61) and NGCs (n=155).Measures: Molecular testing was used to determine the number of CAG repeats in the HD gene. A quantified neurologic examination and a battery of physiological measures of central nervous system function measuring speed of movement and reaction time were administered.Results: On neurologic examination, the PSGCs exhibited significantly more definite or possible abnormalities than NGCs for overall oculomotor function, saccade velocity, optokinetic nystagmus, chorea of the extremities, and dystonia of the extremities (P