Dentatorubral-pallidoluysian Atrophy: An Update.
Dentatorubral-pallidoluysian Atrophy: An Update.
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dentatorubral-pallidoluysian萎缩：更新。
DOI：
10.7916/d81n9hst
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发表时间：
2018
期刊：
影响因子：
--
通讯作者：
Peall KJ
中科院分区：
文献类型：
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作者：
Carroll LS;Massey TH;Wardle M;Peall KJ
齿状核红核-苍白球路易氏体萎缩（DRPLA）是一种罕见的常染色体显性遗传疾病，其特征是肌阵挛、癫痫、共济失调和痴呆。诊断是具有挑战性的，由于异质性的表现和症状重叠与其他脊髓小脑共济失调。症状因发病年龄而异，平均发病年龄为31岁。ATN 1基因中的CAG重复扩增导致苍白球、齿状核和红核中的神经元核内包涵体、可变神经元丢失和星形细胞增多。目前没有疾病修饰或治愈性治疗方法，我们使用PubMed对过去10年中以英语格式发表的关于DRPLA或ATN 1主题的所有文章进行了在线文献检索。如果这些文章引用了其他研究作为结果或声明的支持，则也对这些文章进行了审查。相关研究领域的当代文章（例如，亨廷顿氏病）也被纳入支持声明。识别出47篇文章，10篇无法获得，10篇未提供相关信息。然后将其余27篇文章用于综述模板：7篇病例报告、7篇病例系列、6篇模型系统文章（1篇综述文章）、4篇人群临床和遗传学研究（1篇综述文章）、2篇一般综述文章和1篇人类基因表达研究。其他被引用的文章或相关领域的研究给出了另外42篇文章，总共引用了69篇文章：15个病例系列（包括8项家庭研究），14个示范系统（1篇评论文章），14项人口临床和遗传研究（2篇综述文章），10篇病例报告，8篇临床试验/指南，4篇遗传方法学文章，3篇一般综述文章，和一项人类基因表达研究。DRPLA仍然是一种难治性、进行性、神经退行性疾病，没有有效的治疗方法。早期识别这种疾病可能会改善患者的理解，并获得服务和治疗。缺乏大规模的研究，但需要在所有人群中表征疾病的完整等位基因结构和异质性表型谱，包括神经影像学发现，可能的生物标志物和对治疗的反应。
Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is challenging due to the heterogeneous presentation and symptomatic overlap with other spinocerebellar ataxias. Symptoms vary according to age of onset, with a mean age at onset of 31 years. A CAG repeat expansion in the ATN1 gene results in neuronal intranuclear inclusions, variable neuronal loss, and astrocytosis in the globus pallidus, dentate and red nuclei. No disease-modifying or curative treatments are currently available We performed an online literature search using PubMed for all articles published in an English Language format on the topics of DRPLA or ATN1 over the last 10 years. Where these articles cited other research as support for findings, or statements, these articles were also reviewed. Contemporary articles from related research fields (e.g., Huntington’s Disease) were also included to support statements. Forty-seven articles were identified, 10 were unobtainable and 10 provided no relevant information. The remaining 27 articles were then used for the review template: seven case reports, seven case series, six model system articles (one review article), four population clinical and genetic studies (one review article), two general review articles, and one human gene expression study. Other cited articles or research from related fields gave a further 42 articles, producing a total of 69 articles cited: 15 case series (including eight family studies), 14 model systems (one review article), 14 population clinical and genetic studies (two review articles), 10 case reports, eight clinical trials/guidelines, four genetic methodology articles, three general review articles, and one human gene expression study. DRPLA remains an intractable, progressive, neurodegenerative disorder without effective treatment. Early recognition of the disorder may improve patient understanding, and access to services and treatments. Large-scale studies are lacking, but are required to characterize the full allelic architecture of the disorder in all populations and the heterogeneous phenotypic spectrum, including neuroimaging findings, possible biomarkers, and responses to treatment.