伴有脑干和脊髓受累及乳酸升高的白质脑病：DARS2基因的一种新突变
Leucoencephalopathy with brain stem and spinal cord involvement and lactate elevation: a novel mutation in the DARS2 gene.
作者信息
Yelam Anudeep, Nagarajan Elanagan, Chuquilin Miguel, Govindarajan Raghav
机构信息
Neurology, University of Missouri Health Care, Columbia, Missouri, USA.
Neurology, Howard Hughes Medical Institute, School of Medicine, University of Missouri Columbia, Columbia, Missouri, USA.
出版信息
BMJ Case Rep. 2019 Jan 10;12(1):bcr-2018-227755. doi: 10.1136/bcr-2018-227755.
Abstract
Leucoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) is a very rare autosomal recessive, slowly progressive neurological disorder characterised by distinctive clinical findings including cerebellar, pyramidal and dorsal column dysfunction. This is caused by a mutation in the DARS2 gene, which encodes mitochondrial aspartyl-tRNA synthetase. MRI shows distinctive abnormalities in the cerebral white matter and specific brain stem and spinal cord tracts. Here, we present a case of LBSL, with a novel c.1192-2A>G mutation.
摘要
伴有脑干和脊髓受累及乳酸升高的白质脑病（LBSL）是一种非常罕见的常染色体隐性、缓慢进展的神经疾病，其特征为独特的临床表现，包括小脑、锥体束和后索功能障碍。这是由DARS2基因突变引起的，该基因编码线粒体天冬氨酰 - tRNA合成酶。MRI显示大脑白质以及特定脑干和脊髓束有独特异常。在此，我们报告一例LBSL病例，带有一个新的c.1192 - 2A>G突变。
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