Cognitive impairment in rapid-onset dystonia-parkinsonism.
Cognitive impairment in rapid-onset dystonia-parkinsonism.
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DOI：
10.1002/mds.25790
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发表时间：
2014-03
影响因子：
8.6
通讯作者：
Brashear, Allison
中科院分区：
文献类型：
--
作者：
Cook, Jared F.;Hill, Deborah F.;Snively, Beverly M.;Boggs, Niki;Suerken, Cynthia K.;Haq, Ihtsham;Stacy, Mark;McCall, W. Vaughn;Ozelius, Laurie J.;Sweadner, Kathleen J.;Brashear, Allison
快速发作性肌张力障碍-帕金森病（RDP）是由ATP1A3基因突变引起的。这项观察性研究旨在确定与突变阴性对照相比，RDP患者的认知能力是否下降。我们研究了22名家族性RDP患者，3名非运动表现突变阳性的家庭成员，9个家庭的29名突变阴性的家庭成员对照，以及4名无血缘关系的RDP患者，共计58人。我们进行了一项运动障碍评估，包括伯克-法恩-马斯登肌张力障碍评定量表（BFMDRS）和统一帕金森病评定量表（UPDRS），以及学习、记忆、精神运动速度、注意力和执行功能的认知测试。认知电池被设计用来评估广泛的功能；识别记忆工具被选择为相对纯粹的延迟记忆测量，没有明显的运动或声音生产限制。标准化认知评分的比较在控制和不控制精神运动速度的情况下都进行了评估，抑郁症状的严重程度也是如此。在RDP患者中，大多数在25岁时开始出现运动症状，并且最初的症状出现在上半身（面部、口腔或手臂）。在患者中，BFMDRS（平均±SD， 52.1±29.5）和UPDRS运动评分（29.8±12.7）证实肌张力障碍-帕金森症。受影响的RDP患者在所有学习、记忆、精神运动速度、注意力和执行功能评分方面的平均表现比突变阴性对照组更差（均P≤0.01）。在控制了精神运动速度和抑郁症状的严重程度后，这些差异仍然存在。认知功能受损可能是ATP1A3突变和RDP的表现。
Rapid-Onset Dystonia-Parkinsonism (RDP) is caused by mutations in the ATP1A3 gene. This observational study sought to determine if cognitive performance is decreased in patients with RDP compared with mutation-negative controls. We studied 22 familial RDP patients, 3 non-motor manifesting mutation-positive family members, 29 mutation-negative family member controls in 9 families, and 4 unrelated RDP patients, totaling 58 individuals. We administered a movement disorder assessment, including the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and Unified Parkinson’s Disease Rating Scale (UPDRS), and a cognitive battery of learning, memory, psychomotor speed, attention, and executive function. The cognitive battery was designed to evaluate a wide range of functions; recognition memory instruments were selected to be relatively pure measures of delayed memory, devoid of significant motor or vocal production limitations. Comparisons of standardized cognitive scores were assessed both with and without controlling for psychomotor speed, and similarly for severity of depressive symptoms. Among RDP patients, a majority had onset of motor symptoms by age 25, and had initial symptom presentation in the upper body (face, mouth, or arm). Among patients, the BFMDRS (mean ± SD, 52.1 ± 29.5) and UPDRS motor subscore (29.8 ± 12.7) confirmed dystonia-parkinsonism. The affected RDP patients performed more poorly, on average, than mutation-negative controls for all learning, memory, psychomotor speed, attention, and executive function scores (all P ≤0.01). These differences persisted after controlling for psychomotor speed and severity of depressive symptoms. Impaired cognitive function may be a manifestation of ATP1A3 mutation and RDP.
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影响因子：
4.1
作者：
Barbano, Richard L.;Hill, Deborah F.;Brashear, Allison
通讯作者：
Brashear, Allison
影响因子：
8.6
作者：
Scott, RB;Gregory, R;Aziz, T
通讯作者：
Aziz, T
影响因子：
--
作者：
Middleton, FA;Strick, PL
通讯作者：
Strick, PL
影响因子：
56.9
作者：
Allen, G;Buxton, RB;Courchesne, E
通讯作者：
Courchesne, E
影响因子：
5.8
作者：
Bostan, Andreea C.;Strick, Peter L.
通讯作者：
Strick, Peter L.