New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism
New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism
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DOI：
10.1016/j.parkreldis.2012.03.020
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发表时间：
2012-07-01
影响因子：
4.1
通讯作者：
Brashear, Allison
中科院分区：
文献类型：
--
作者：
Barbano, Richard L.;Hill, Deborah F.;Brashear, Allison
背景：一位来自意大利的女性在59岁时出现腿部肌张力障碍症状。快速发作的肌张力障碍，帕金森综合征（RDP）没有怀疑，直到3受影响的儿童（2男，1女）的介绍符合disorderwere recognized.Methods：母亲和她的孩子（3与1无肌张力障碍）进行了评估，包括标准化的历史问卷和评定量表广泛的电池。此外，所有四个孩子进行了认知测试和四个孩子中的三个有精神interviews.Results：在这个家庭中，T613 M突变的ATP 1A 3基因被确认，最常见的突变存在于RDP患者。先证者的肢体肌张力障碍不典型的RDP，其他受影响的症状包括构音障碍，不对称的肢体肌张力障碍，吞咽困难更符合RDP。两个儿子在青春期大量饮酒后患上了肌张力障碍-帕金森综合症。所有3个精神科的采访达到诊断阈值的情绪障碍（双相或恶劣心境）和某种形式的焦虑disorder.Conclusions：表型和发病年龄比以前报道的RDP更广泛，这表明它可能被低估。在这项研究之前，与RDP相关的神经心理症状被低估。那些有风险或怀疑患有RDP的患者应注意避免过量饮酒。需要进一步的研究来评估认知和精神病学特征是否是更广泛的RDP表型的一部分，这可能对未来研究精神疾病的遗传易感性产生影响。(c)2012爱思唯尔有限公司保留所有权利。
Background: A woman from Italy presented with dystonic leg symptoms at the age of 59. Rapid-onset dystonia-parkinsonism (RDP) was not suspected until 3 affected children (2 male, 1 female) with presentations consistent with the disorder were recognized.Methods: The mother and four of her children (3 with and 1 without dystonia) were evaluated with an extensive battery including standardized history questionnaire and rating scales. In addition, all four children had cognitive testing and three of the four children had psychiatric interviews.Results: In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP. The proband's limb dystonia was atypical of RDP, symptoms of the others affected included dysarthria, asymmetric limb dystonia, and dysphagia more consistent with RDP. The two sons developed dystonia-parkinsonism in adolescence after consuming large amounts of alcohol. All 3 of those with psychiatric interviews reached diagnosable thresholds for mood disorder (bipolar or dysthymia) and some form of anxiety disorder.Conclusions: The phenotype and age of onset is broader than previously reported in RDP, suggesting that it could be under-reported. Prior to this study, neuropsychologic symptoms associated with RDP were under-appreciated. Those patients who are at risk or suspected of having RDP should be cautioned to avoid excessive alcohol intake. Further study is needed to assess if the cognitive and psychiatric features are part of a broader RDP phenotype and this may have implications for future research into genetic susceptibility for psychiatric disease. (c) 2012 Elsevier Ltd. All rights reserved.