Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS).
Functional status of men with the fragile X premutation, with and without the tremor/ataxia syndrome (FXTAS).
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DOI：
10.1002/gps.2231
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发表时间：
2009-10
影响因子：
4
通讯作者：
Grigsby, Jim
中科院分区：
文献类型：
--
作者：
Brega, Angela G.;Reynolds, Ann;Bennett, Rachael E.;Leehey, Maureen A.;Bounds, Lanee S.;Cogswell, Jennifer B.;Hagerman, Randi J.;Hagerman, Paul J.;Grigsby, Jim
关键词：
脆性X相关震颤/共济失调综合征(FXTAS)是一种以动作震颤、步态共济失调和执行认知功能受损为特征的神经退行性疾病。目的：评估脆性X基因前突变男性携带者的功能缺陷的性质和严重程度，包括是否存在FXTAS。将42名FXTAS患者和24名无症状前突变携带者与32名对照组在身体功能、日常生活活动(如吃饭、洗澡)和日常生活工具性活动(如购物、管理药物)方面进行比较。使用普通最小二乘回归，控制了年龄、教育程度、医疗合并症和疼痛，以检查两组在身体和功能表现上的差异。患有FXTAS的男性在所有依赖指标上的表现明显低于对照组，在身体功能以及日常生活能力和日常生活能力方面表现出更大的局限性(p<；0.05)。随后的分析表明，FXTAS男性的身体和功能障碍主要是由运动和执行功能缺陷造成的，CGG重复长度与功能障碍有关。脆性X预突变的无症状携带者在所有指标上的表现都与对照组相似。这项研究首次对男性前突变携带者的功能状态进行了全面评估。尽管没有FXTAS的携带者的表现与对照组相似，但患有FXTAS的男性表现出明显的身体和功能损害，这似乎主要是由于该综合征特有的运动障碍造成的。
Fragile X-associated tremor/ataxia syndrome (FXTAS), which occurs in some premutation carriers of the fragile X mental retardation 1 (FMR1) gene, is a neurodegenerative disorder characterized by action tremor, gait ataxia, and impaired executive cognitive functioning. To evaluate the nature and severity of functional limitations among male carriers of the fragile X premutation, both with and without FXTAS. Forty-two subjects with FXTAS and 24 asymptomatic premutation carriers were compared to 32 control subjects on measures of physical functioning, activities of daily living (e.g., eating, bathing), and instrumental activities of daily living (e.g., shopping, managing medications). Ordinary least squares regression, controlling for age, education, medical comorbidity, and pain, was used to examine group differences in physical and functional performance. Men with FXTAS performed significantly worse than control subjects on all dependent measures, showing greater limitations in physical functioning, as well as ADL and IADL performance (p < 0.05). Subsequent analyses suggested that physical and functional impairments among men with FXTAS result largely from deficits in motor and executive functioning and that CGG repeat length is associated with functional impairment. Asymptomatic carriers of the fragile X premutation performed similarly to control subjects on all measures. This study provides the first comprehensive evaluation of functional status among male premutation carriers. Although carriers without FXTAS performed similarly to control subjects, men with FXTAS showed evidence of significant physical and functional impairment, which appears to result largely from motor deficits characteristic of the syndrome.
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DOI：
10.1093/gerona/62.9.989
发表时间：
2007-09-01
影响因子：
5.1
作者：
Bryan, Lucinda L.;Grigsby, Jim;Baxter, Judith
通讯作者：
Baxter, Judith
影响因子：
2
作者：
Berry-Kravis, Elizabeth;Goetz, Christopher G.;Hagerman, Paul J.
通讯作者：
Hagerman, Paul J.
DOI：
10.1111/j.1532-5415.1998.tb01075.x
发表时间：
1998-05-01
影响因子：
6.3
作者：
Grigsby, J;Kaye, K;Hamman, RF
通讯作者：
Hamman, RF
DOI：
10.1111/j.1532-5415.1990.tb03452.x
发表时间：
1990-12-01
影响因子：
6.3
作者：
KAYE, K;GRIGSBY, J;KORZUN, B
通讯作者：
KORZUN, B
影响因子：
8.6
作者：
Grigsby, Jim;Brega, Angela G.;Hagerman, Randi J.
通讯作者：
Hagerman, Randi J.