This study presented two Chinese adult female patients who were diagnosed with adult-onset Krabbe disease (KD) and reviewed this disease in Chinese patients. Two young female adults in their 20s were enrolled in this study. Clinical data, including symptoms, magnetic resonance imaging (MRI) scanning, and laboratory studies were collected. Sequence alignment and structural modeling were carried out to analyze the pathogenesis of the disease. Both patients were adult-onset and both had a mild clinical course, presented with spastic weakness. The MRI study showed demyelination confined to the corticospinal tracts and parieto-occipital white matter. The beta-galactocerebrosidase (GALC) activity was obviously decreased in both patients. Gene test of GALC showed that both patients were compound heterozygotes; proband I was a carrier of p.L634S (c.1901 T > C) and p.I250T (c.749 T > C), while proband II was a carrier of p.L634S (c.1901 T > C) and a new variant of c.283_284del. Molecular analysis revealed the variants may influence the function of GALC. We provided two Chinese adult-onset KD, and the clinical and genetic characteristics of proband II was especially rare due to asymmetric symptoms, spinal cord involvement, and the identification of a new point mutation c.283_284del in the GALC gene. Variant c.749 T > C can present mild syndromes except for severe cases. c.283_284del is a new variant that may occur in adult-onset type.
基金：
National Key R&D Program of China, Precision Medicine Program, Cohort study on nervous system diseases [2017YFC0907700]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81571633]; Beijing Health System Clinicians Training Plan [20143054]; Capital Citizen Health Training Project [Z131100006813020]
第一作者机构：[1]Neurology Department, Xuanwu Hospital, No 45, Changchun Road, Beijing 100053, People’s Republic of China
通讯作者：
推荐引用方式(GB/T 7714)：
Zhang Chengyi,Liu Zheng,Dong Huiqing.Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature[J].JOURNAL OF MOLECULAR NEUROSCIENCE.2021,71(6):1185-1192.doi:10.1007/s12031-020-01742-1.
APA：
Zhang, Chengyi,Liu, Zheng&Dong, Huiqing.(2021).Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature.JOURNAL OF MOLECULAR NEUROSCIENCE,71,(6)
MLA：
Zhang, Chengyi,et al."Two Cases of Female Chinese Adult-Onset Krabbe Disease with One Novel Mutation and a Review of Literature".JOURNAL OF MOLECULAR NEUROSCIENCE 71..6(2021):1185-1192
