A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report. Issue 3 (4th May 2022)

• Record Type: Journal Article
• Authors: He, Zhengqing; Pang, Xinyuan; Bai, Jiongming; Wang, Haoran; Feng, Feng; Du, Rongrong; Huang, Xusheng
• Is Part Of: Neurocase. Volume 28:Issue 3(2022)
• Page Start: 314
• Page End: 319
• Publication Date: 2022-05-04
• Subjects: Adult-onset -- Krabbe disease -- GALC gene -- spastic paraplegia; Neurology -- Periodicals; Neuropsychology -- Case Report; Mental Disorders -- Case Report; Nervous System Diseases -- Case Report; 616.8
• DOI: 10.1080/13554794.2022.2083518
• Languages: English
• ISSNs: 1355-4794

Abstract

ABSTRACT: 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.