Systematic review of autosomal recessive ataxias and proposal for a classification.
Systematic review of autosomal recessive ataxias and proposal for a classification.
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DOI：
10.1186/s40673-017-0061-y
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发表时间：
2017
影响因子：
--
通讯作者：
Dupré N
中科院分区：
文献类型：
--
作者：
Beaudin M;Klein CJ;Rouleau GA;Dupré N
由于高度的遗传异质性和复杂的表型，常染色体隐性共济失调的分类是一个重大挑战。我们对文献进行了全面系统的回顾，以检查所有隐性共济失调，以便随着全面靶向基因测试新技术的出现，提出新的分类并正确界定该领域。我们搜索了 Pubmed 和 Embase，以查找有关人类隐性共济失调的原始文章，其中的致病基因已被确定。还审查了参考文献列表和公共数据库，包括 OMIM 和 GeneReviews。我们评估了临床描述，以确定共济失调是否是表型的核心特征，并评估了基因型-表型关联的现有证据。所包括的疾病被分类为原发性隐性共济失调、其他具有显着共济失调的复杂运动或多系统疾病、或可能偶尔出现共济失调的疾病。删除重复项后，对 2354 篇参考文献进行了审查和评估以纳入参考文献。总共 130 篇文章经过完整审查并纳入本次定性分析。拟议的常染色体隐性共济失调新列表包括 45 种基因定义的疾病，共济失调是其核心表现特征。我们提出了一种基于相关症状的临床算法。我们提出了常染色体隐性共济失调的新分类，使人们认识到其复杂的表型，同时提供这组疾病的统一分类。该综述应有助于制定可用于临床和研究应用的共识命名法。本文的在线版本 (doi:10.1186/s40673-017-0061-y) 包含补充材料，可供授权用户使用。
The classification of autosomal recessive ataxias represents a significant challenge because of high genetic heterogeneity and complex phenotypes. We conducted a comprehensive systematic review of the literature to examine all recessive ataxias in order to propose a new classification and properly circumscribe this field as new technologies are emerging for comprehensive targeted gene testing. We searched Pubmed and Embase to identify original articles on recessive forms of ataxia in humans for which a causative gene had been identified. Reference lists and public databases, including OMIM and GeneReviews, were also reviewed. We evaluated the clinical descriptions to determine if ataxia was a core feature of the phenotype and assessed the available evidence on the genotype-phenotype association. Included disorders were classified as primary recessive ataxias, as other complex movement or multisystem disorders with prominent ataxia, or as disorders that may occasionally present with ataxia. After removal of duplicates, 2354 references were reviewed and assessed for inclusion. A total of 130 articles were completely reviewed and included in this qualitative analysis. The proposed new list of autosomal recessive ataxias includes 45 gene-defined disorders for which ataxia is a core presenting feature. We propose a clinical algorithm based on the associated symptoms. We present a new classification for autosomal recessive ataxias that brings awareness to their complex phenotypes while providing a unified categorization of this group of disorders. This review should assist in the development of a consensus nomenclature useful in both clinical and research applications. The online version of this article (doi:10.1186/s40673-017-0061-y) contains supplementary material, which is available to authorized users.