Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
Pediatric Leigh Syndrome: Neuroimaging Features and Genetic Correlations
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DOI：
10.1002/ana.25789
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发表时间：
2020-06-13
影响因子：
11.2
通讯作者：
Zuccoli, Giulio
中科院分区：
文献类型：
--
作者：
Alves, Cesar A. P. F.;Teixeira, Sara R.;Zuccoli, Giulio
Leigh综合征的神经诊断标准尚未根据分子病因学的扩展而明确重新定义。我们的目的是分析20年的临床，遗传和磁共振研究，从我们的Leigh综合征队列提供了一个详细的描述中枢神经系统病变的Leigh综合征及其生物学演变的遗传和临床研究结果。我们的研究为Leigh综合征的现有知识增加了新的神经诊断见解，包括与重叠综合征的相关性，以及致病性遗传变异与神经影像学表型的相关性。ANN NEUROL 2020
The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leigh syndrome and their biological evolution in view of their genetic and clinical findings. Our study adds new neurodiagnostic insights to the current knowledge of Leigh syndrome, including association with overlapping syndromes, and the correlation of pathogenic genetic variants with neuroimaging phenotypes. ANN NEUROL 2020