A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report

被引：3
作者：
He, Zhengqing [1 ,2 ]
Pang, Xinyuan [2 ,3 ]
Bai, Jiongming [2 ,3 ]
Wang, Haoran [2 ,3 ]
Feng, Feng [4 ]
Du, Rongrong [2 ,3 ]
Huang, Xusheng [1 ,2 ,3 ]
机构：
[1] Chinese PLA Med Sch, Beijing, Peoples R China
[2] Chinese Peoples Liberat Army Gen Hosp, Med Ctr 1, Dept Neurol, Beijing, Peoples R China
[3] Nankai Univ, Coll Med, Tianjin, Peoples R China
[4] PLA Rocket Force Characterist Med Ctr, Dept Neurol, Beijing, Peoples R China
来源：
NEUROCASE | 2022年 / 28卷 / 03期
关键词：
Adult-onset; Krabbe disease; GALC gene; spastic paraplegia; GLOBOID-CELL LEUKODYSTROPHY; GALACTOCEREBROSIDASE; CDNA;
D O I：
10.1080/13554794.2022.2083518
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
To analyze the clinical, imaging, and genetic characteristics of a patient diagnosed with adult-onset Krabbe disease (KD). Clinical and imaging features of the patient were retrospectively reviewed. The patient, a 40-year-old female, presented adult-onset spastic paraplegia. Brain magnetic resonance imaging (MRI) showed white matter hyperintensities along bilateral optic radiations. Colorimetry of galactocerebrosidase enzyme activity showed low enzyme levels. A heterozygous missense mutation: c.1658G>A (p.G553E) and c.1901T>C (p.L634S) was identified in the GALC gene by whole exome sequencing, and was verified by Sanger sequencing. KD should be considered when patients presented adult-onset spastic paraplegia with classical MRI imaging features. Mutation c.1658G>A (p.G553E) was novel in GALC gene and broaden the mutation spectrum.
引用
收藏
页码：314 / 319
页数：6
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