Adult-onset Krabbe disease in two generations of a Chinese family.

ABSTRACT:

Background

Krabbe disease (KD) is a rare autosomal recessive lysosomal storage disorder caused by deficiency of the galactocerebrosidase (GALC) enzyme. The adult-onset KD is infrequent, and often presenting with slowly progressive spastic paraplegia. Herein, we describe a two-generation concomitant Chinese pedigree of adult-onset KD in which the proband presented with acute hemiplegia at onset.

Methods

We collected the clinical and neuroimaging data of the pedigree. GALC enzyme activity detection and gene analysis were performed to confirm the diagnosis. Moreover, we reviewed all studies available on PubMed to understand the correlationship between phenotype and genotype of the identified mutations.

Results

The proband presented with sudden-onset weakness of left limb

SUBMITTER: Zhang T 

PROVIDER: S-EPMC5994525 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature