Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review.

ABSTRACT: Krabbe disease (KD), also referred to as globoid cell leukodystrophy, is a rare autosomal recessive lysosomal storage disorder caused by β-galactocerebrosidase (GALC) deficiency. Most patients affected by this disease are infants, and <10% of cases suffer from adult-onset KD. In this study, two Chinese males presented with long-term progressive weakness in their limbs. Magnetic resonance imaging of the brain and spinal cord of these patients revealed lesions with abnormally high signal intensity on T2-weighted (T2W) and T2W fluid-attenuated inversion recovery images. Whole-exome sequencing was performed for both patients, and four GALC mutations were identified. Case 1 carried a novel deletion mutation (p.T633Tfs^*2) and a known missense mutation (p.T529M), while case 2 ca

SUBMITTER: Zhong J 

PROVIDER: S-EPMC7473299 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature