Neuroacanthocytosis in china: a review of published reports.
Neuroacanthocytosis in china: a review of published reports.
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DOI：
10.7916/d8q23xdx
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发表时间：
2014
期刊：
影响因子：
--
通讯作者：
Danek A
中科院分区：
文献类型：
--
作者：
Liu J;Bader B;Danek A
神经棘红细胞增多症（NA）综合征是一组以棘红细胞和神经元多系统病变为特征的罕见疾病，包括舞蹈病棘红细胞增多症（ChAc）、McLeod综合征（MLS）、亨廷顿病样2（HDL-2）和泛酸激酶相关神经变性（PKAN）。中国是世界上人口最多的国家，这使得它成为研究NA等罕见疾病的好地方。我们检索了Medline、ISI Proceedings、中国国家知识基础设施和万方数据，查找截至2013年12月31日发表的文献，以获取所有已发表的中国NA病例报告，并提取了临床和实验室结果。共有42项研究描述了66例病例，符合纳入条件。发病年龄5 ~ 74岁。最常见的发现包括运动过度（88%）、口面运动障碍（80%）、肌张力障碍（67%）和构音障碍（68%），以及神经影像学上的尾状核萎缩或侧脑室扩大（64%）和肌酸激酶升高（52%）。大多数病例没有得到任何特定分子检测的证实。只有两例进行了遗传学研究，并诊断为ChAc或MLS。鉴于NA综合征在其他国家的患病率，中国的患者数量似乎被低估了。中国NA患者可能会受益于建立网络，为罕见疾病提供特定的诊断和护理。
Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN). China has the largest population in the world, which makes it a good location for investigating rare diseases like NA. We searched Medline, ISI Proceedings, China National Knowledge Infrastructure, and Wanfang Data for literature published through December 31, 2013 for all the published Chinese NA case reports and extracted the clinical and laboratory findings. A total of 42 studies describing 66 cases were found to be eligible for inclusion. Age of symptom onset ranged from 5 to 74 years. The most common findings included hyperkinetic movements (88%), orofacial dyskinesia (80%), dystonia (67%), and dysarthria (68%), as well as caudate atrophy or enlarged lateral ventricles on neuroimaging (64%), and elevated creatine kinase (52%). Most cases were not confirmed by any specific molecular tests. Only two cases were genetically studied and diagnosed as ChAc or MLS. In view of the prevalence of NA syndromes in other countries, the number of patients in China appears to be underestimated. Chinese NA patients may benefit from the establishment of networks that offer specific diagnoses and care for rare diseases.