详情页 - 首都医科大学宣武医院知识库

当前位置：首页 > 详情页

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia

文献详情

资源类型：

收录情况： ◇ SCIE

作者：

机构： [a]Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China [b]Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China [c]Department of Neurology, Beijing Tiantan Hospital, Captical Medical University, Beijing, 100070, China

出处：

DOI：

ISSN：

关键词： ABCD1 Magnetic resonance imaging Peroxisomal disease PEX16 very long chain fatty acids X-linked adrenoleukodystrophy Zellweger spectrum disorder

摘要：

Introduction: X-linked adrenoleukodystrophy (ALD) and Zellweger spectrum disorder (ZSD) are peroxisomal diseases characterized by accumulation of very long chain fatty acids (VLCFA) in plasma and tissues. Considering the wide variability of manifestation, patients of ALD and atypical ZSD are easily misdiagnosed as hereditary spastic paraplegia (HSP) on their clinical grounds. Here, we aimed to determine the frequency of peroxisome diseases and compare their phenotypic spectra with HSP. Methods: We first applied targeted sequencing in 120 pedigrees with spastic paraplegia, and subsequently confirmed 74 HSP families. We then performed whole exome sequencing for the probands of the 46 remaining pedigrees lacking known HSP-causal genes. Detailed clinical, radiological features, and VLCFA analyses are presented. Results: Seven ALD pedigrees with ABCD1 mutations and one ZSD family harboring bi-allelic mutations of PEX16 were identified. Clinically, in addition to spastic paraplegia, four ALD probands presented adrenocortical insufficiency, and the ZSD proband and her affected sister both developed thyroid problems. VLCFA analysis showed that ratios of C24/C22 and C26/C22 were specifically increased in ALD probands. Moreover, three ALD probands and the ZSD proband had abnormalities in brain or spinal imaging. Conclusions: Our study reports the first ZSD case in China that manifested spastic paraplegia, and emphasized the finding that peroxisomal diseases comprise a significant proportion (8/120) of spastic paraplegia entities. These findings extend our current understanding of the ALD and ZSD diseases. © 2019 Elsevier Ltd

基金：

语种：

PubmedID：

中科院(CAS)分区：

出版当年[2018]版：

大类 | 2 区医学

小类 | 2 区临床神经病学

最新[2023]版：

大类 | 3 区医学

小类 | 3 区临床神经病学

JCR分区：

出版当年[2017]版：

Q1 CLINICAL NEUROLOGY

最新[2023]版：

Q2 CLINICAL NEUROLOGY

影响因子： 3.1 最新[2023版] 3.8 最新五年平均 4.721 出版当年[2017版] 4.855 出版当年五年平均 4.484 出版前一年[2016版] 4.36 出版后一年[2018版]

第一作者：

第一作者机构： [a]Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China

共同第一作者：

通讯作者：

通讯机构： [a]Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China [b]Fujian Key Laboratory of Molecular Neurology, Fujian Medical University, Fuzhou, 350005, China [*1]Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China [*2]Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, 350005, China.

推荐引用方式(GB/T 7714)：

APA：

MLA：

Chinese patients with adrenoleukodystrophy and Zellweger spectrum disorder presenting with hereditary spastic paraplegia

文献详情

相关文献