Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers.
Influence of L-dopa on subtle motor signs in heterozygous Parkin- and PINK1 mutation carriers.
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左旋多巴对 Parkin 和 PINK1 突变携带者杂合子细微运动体征的影响
DOI：
10.1016/j.parkreldis.2017.07.003
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发表时间：
2017
影响因子：
4.1
通讯作者：
Christine
中科院分区：
文献类型：
--
作者：
Weissbach;König;Inke R;Hückelheim;Pramstaller;Peter P;Werner;Brüggemann;Norbert;Lohmann;Bäumer;Tobias;Münchau;Alexander;Kasten;Christine
无症状异源帕金森病和PINK 1突变携带者（AMC）的潜在黑质纹状体缺陷及其可能的临床后果是近年来的一个研究问题。值得注意的是，在杂合子突变携带者的轻度帕金森症状可以是如此微妙，他们可能会错过，如果不具体investigated.MethodsWe研究了15 heteroadrenousParkinandPINK 1AMC和18年龄和性别匹配的突变阴性对照使用标准化的视频，指示先证者进行相关部分的PINKRS III调查精细运动在基线和第一次L-多巴管理后。此外，可从过去十年的突变携带者的MARS III评分进行了reviewed.ResultsAMC显示，在基线（p= 0.04）相比，每秒的精细运动的数量减少。L-多巴在AMC中在数值上改善了运动表现，但不显著（p = 0.2301），但在健康对照中显著（p = 6.1·10-5）。尽管没有AMC报告症状，但当应用AIRRS III时，9例显示僵硬、运动迟缓、震颤和姿势不稳定。L-Dopa给药后平均AMRSIII评分显著降低（p = 0.005），但在过去的ten years.Conclusions（i）杂合子AMC显示微妙的运动异常时，一个详细的，专门的运动检查应用和突变阴性匹配的对照组相比。(ii)轻度运动障碍存在于异源性帕金森病和PINK 1AMC亚组中，似乎是非进行性的，对左旋多巴有反应。(iii)评估AMC的运动变化、进展和治疗反应可以为可能的早期疾病阶段和代偿机制提供有价值的见解。
IntroductionA latent nigrostriatal deficit and its possible clinical consequences in asymptomatic heterozygousParkinandPINK1mutation carriers (AMC) have been a matter of investigation in recent years. Notably, mild Parkinsonian signs in heterozygous mutation carriers can be so subtle that they may be missed if not specifically investigated.MethodsWe studied 15 heterozygousParkinandPINK1AMC and 18 age- and sex-matched mutation-negative controls using a standardized video, instructing the probands to perform relevant parts of the UPDRS III to investigate fine motor movements at baseline and after first-time L-Dopa administration. Additionally, available UPDRS III scores of mutation carriers from the past ten years were reviewed.ResultsAMC showed a reduced number of fine motor movements per second compared to controls at baseline (p= 0.04). L-Dopa improved motor performance numerically but non-significantly in AMC (p = 0.2301), but significantly in healthy controls (p = 6.1·10–5). Although none of the AMC reported symptoms, nine showed rigidity, bradykinesia, tremor, and postural instability when the UPDRS III was applied. Mean UPDRSIII scores significantly decreased after L-Dopa administration (p = 0.005), but did not increase over the past ten years.Conclusions(i) Heterozygous AMC show subtle motor abnormalities when a detailed, specialized motor examination is applied and compared to mutation-negative matched control subjects. (ii) The mild motor deficit present in a subgroup of heterozygousParkinandPINK1AMC appears to be non-progressive and responsive to L-dopa administration. (iii) Evaluating motor changes, their progression, and treatment response in AMC can provide valuable insights into possible early disease stages and compensatory mechanisms.
影响因子：
14.5
作者：
Buhmann, C;Binkofski, F;Siebner, HR
通讯作者：
Siebner, HR
Parkin 和 Pink1 突变携带者杂合子运动前相互作用异常
影响因子：
4.7
作者：
Weissbach A;Bäumer T;Pramstaller P
通讯作者：
Pramstaller P
影响因子：
9.9
作者：
Binkofski, F.;Reetz, K.;Klein, C.
通讯作者：
Klein, C.