Neurocase · 2022
A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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He Zhengqing, Pang Xinyuan, Bai Jiongming, Wang Haoran, Feng Feng, Du Rongrong, Huang Xusheng
Аннотация
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.