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Genetic disorders with central nervous system white matter abnormalities: An update
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-10-12 , DOI: 10.1111/cge.13863 Anju Shukla 1 , Parneet Kaur 1 , Dhanya Lakshmi Narayanan 1 , Michelle C do Rosario 1 , Rajagopal Kadavigere 2 , Katta Mohan Girisha 1
Clinical Genetics ( IF 2.9 ) Pub Date : 2020-10-12 , DOI: 10.1111/cge.13863 Anju Shukla 1 , Parneet Kaur 1 , Dhanya Lakshmi Narayanan 1 , Michelle C do Rosario 1 , Rajagopal Kadavigere 2 , Katta Mohan Girisha 1
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Several genetic disorders have variable degree of central nervous system white matter abnormalities. We retrieved and reviewed 422 genetic conditions with prominent and consistent involvement of white matter from the literature. We herein describe the current definitions, classification systems, clinical spectrum, neuroimaging findings, genomics, and molecular mechanisms of these conditions. Though diagnosis for most of these disorders relies mainly on genomic tests, specifically exome sequencing, we collate several clinical and neuroimaging findings still relevant in diagnosis of clinically recognizable disorders. We also review the current understanding of pathophysiology and therapeutics of these disorders.
中文翻译：
具有中枢神经系统白质异常的遗传性疾病：更新
几种遗传疾病具有不同程度的中枢神经系统白质异常。我们从文献中检索并回顾了 422 种具有显着且一致的白质参与的遗传病症。我们在此描述了这些病症的当前定义、分类系统、临床谱、神经影像学发现、基因组学和分子机制。虽然大多数这些疾病的诊断主要依赖于基因组测试，特别是外显子组测序，但我们整理了一些仍然与临床可识别疾病的诊断相关的临床和神经影像学发现。我们还回顾了目前对这些疾病的病理生理学和治疗学的理解。
更新日期：2020-10-12
中文翻译：
具有中枢神经系统白质异常的遗传性疾病：更新
几种遗传疾病具有不同程度的中枢神经系统白质异常。我们从文献中检索并回顾了 422 种具有显着且一致的白质参与的遗传病症。我们在此描述了这些病症的当前定义、分类系统、临床谱、神经影像学发现、基因组学和分子机制。虽然大多数这些疾病的诊断主要依赖于基因组测试，特别是外显子组测序，但我们整理了一些仍然与临床可识别疾病的诊断相关的临床和神经影像学发现。我们还回顾了目前对这些疾病的病理生理学和治疗学的理解。
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