New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients
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DOI：
10.1016/j.parkreldis.2016.12.010
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发表时间：
2017-03-01
影响因子：
4.1
通讯作者：
Boon, Agnita J. W.
中科院分区：
文献类型：
--
作者：
Vroegindeweij, Lena H. P.;Langendonk, Janneke G.;Boon, Agnita J. W.
简介： 铜蓝蛋白血症的诊断通常是在患有该疾病的晚期神经系统表现的患者中进行的。这些患者的预后很差，残疾很严重，而且患者常常英年早逝。我们研究的目的是促进在疾病阶段识别铜蓝蛋白血症，在该阶段治疗可以对结果产生积极影响。目前，铜蓝蛋白血症的神经表型主要在日本患者中描述。这种“经典”表型包括小脑性共济失调、多动性运动障碍和认知能力下降。在这项研究中，我们描述了白种人患者的神经系统疾病谱。方法：从我们的两名患者（CP 基因中 G631R 突变纯合子）和其他已发表的白种人病例中收集了有关神经系统表现和随访的数据。将白种人患者的铜蓝蛋白血症的神经学特征与日本患者的情况进行比较。结果：21 名白种人患者（包括我们的病例和所描述的病例）表现出广泛的运动障碍，主要是舞蹈病、帕金森病和共济失调，还有震颤和肌张力障碍。除了认知能力下降外，近一半的白人患者还出现精神变化，包括抑郁、焦虑和行为变化。在三分之一有神经系统症状的白种人患者中，认知或精神变化是铜蓝蛋白血症的首要神经系统表现。 结论：与之前描述的日本患者相比，白种人的铜蓝蛋白血症可能会出现范围更广、顺序不同的神经系统症状。精神变化和帕金森病也可以加入到神经系统疾病的范围内。认知或精神变化可能是铜蓝蛋白血症的第一个神经系统表现。 (C) 2016 Elsevier Ltd. 保留所有权利。
Introduction: The diagnosis aceruloplasminemia is usually made in patients with advanced neurological manifestations of the disease. In these patients prognosis is poor, disabilities are severe and patients often die young. The aim of our study was to facilitate recognition of aceruloplasminemia at a disease stage at which treatment can positively influence outcome. Currently, the neurological phenotype of aceruloplasminemia has been mainly described in Japanese patients. This 'classical' phenotype consists of cerebellar ataxia, hyperkinetic movement disorders and cognitive decline. In this study we describe the spectrum of neurological disease in Caucasian patients.Methods: Data on neurological presentation and follow-up were gathered from both our patients, homozygous for the G631R mutation in the CP gene, and other published Caucasian cases. Neurological features of aceruloplasminemia in Caucasian patients were compared to those summarized in Japanese patients.Results: 21 Caucasian patients, both ours and the described cases, displayed a wide range of movement disorders with predominant chorea, parkinsonism and ataxia, and also tremor and dystonia. In addition to cognitive decline, nearly half of the Caucasian patients presented with psychiatric changes, including depression, anxiety and behavioral changes. In one-third of the neurologically symptomatic Caucasian patients, cognitive-or psychiatric changes were the first neurological manifestations of aceruloplasminemia.Conclusions: Aceruloplasminemia in Caucasian patients can present with a wider range and a different order of neurological symptoms than previously described in Japanese patients. Psychiatric changes and parkinsonism can be added to the spectrum of neurological disease. Cognitive-or psychiatric changes may be the first neurological manifestations of aceruloplasminemia. (C) 2016 Elsevier Ltd. All rights reserved.