LEUKODYSTROPHY

作品数：5被引量：2H指数：1
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Neurophenotype and genetic analysis of children with Aicardi-Goutières syndrome in China
《Pediatric Investigation》2024年第3期193-200,共8页Shen Zhang Weihua Zhang Changhong Ding Xiaotun Ren Fang Fang Yun Wu 
Importance:Aicardi-Goutières syndrome(AGS)is a rare genetic disorder mainly affecting the central nervous system and autoimmunity.However,research on AGS among Chinese patients is limited.Objective:To summarize the n...
关键词：Aicardi-Goutières syndrome Developmental delay LEUKODYSTROPHY Neurophenotype Whole exome sequencing 
Chinese patients with adult onset leukodystrophy caused by CST3 variants
《Journal of Genetics and Genomics》2024年第7期778-780,共3页Yi Zhang Zhi-Ying Wu 
supported by the grant(82230062)from the National Natural Science Foundation of China to Zhi-Ying Wu.
Leukodystrophies represent a group of cerebral white matter disorders that mainly affect axon-glia units.The disorders are clinically diverse and display significant genetic variability.It is challenging to differenti...
关键词：al. PATIENTS Kohler 
Novel <i>AARS</i>2 Gene Mutation Producing Leukodystrophy: A Patient with Peripheral Demyelinating Polyneuropathy
《World Journal of Neuroscience》2019年第4期224-228,共5页David S. Younger 
Novel AARS2 gene mutations encoding mitochondrial alanyl-tRNA synthetase are important in the spectrum of different phenotypes expressed in the nervous system. Leukodystrophy and ovarian failure in females are common ...
关键词：AARS2 Mutation LEUKODYSTROPHY Lyme NEUROBORRELIOSIS Magnetic Resonance Imaging Electrodiagnostic Studies Cerebrospinal Fluid Epidermal NERVE Fibers SURAL NERVE Muscle Biopsy IVIg 
A 42-year-old woman with 4H leukodystrophy caused by a homozygous mutation in POLR3A gene被引量：1
《Chinese Medical Journal》2019年第15期1879-1880,共2页Yi-Ming Yang Zhong-Min Zhao Yan-Li Jia Yang-Juan Jia Ning Han Jian-Hua Wang 
A 42-year-old woman,born to non-consanguineous parents with no family history of neurological diseases,suffered from ataxia for 3 years.After a normal psychomotor development,the patient first presented dental eruptio...
关键词：HOMOZYGOUS MUTATION POLR3A GENE 
Leukodystrophy without Ovarian Failure Caused by Compound Heterozygous Alanyl-tRNA Synthetase 2 Mutations被引量：1
《Chinese Medical Journal》2017年第24期3021-3022,共2页Jian Sun Chao Quan Su-Shan Luo Lei Zhou Chong-Bo Zhao 
To the Editor：Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene （AARS2） have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.Up to date,there have been 15 pa...
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