Late-onset Krabbe disease presenting as spastic paraplegia - implications of GCase and CTSB/D.

ABSTRACT:

Objective

Krabbe disease (KD) is a multisystem neurodegenerative disorder with severe disability and premature death, mostly with an infancy/childhood onset. In rare cases of late-onset phenotypes, symptoms are often milder and difficult to diagnose. We here present a translational approach combining diagnostic and biochemical analyses of a male patient with a progressive gait disorder starting at the age of 44 years, with a final diagnosis of late-onset KD (LOKD).

Methods

Additionally to cerebral MRI, protein structural analyses of the β-galactocerebrosidase protein (GALC) were performed. Moreover, expression, lysosomal localization, and activities of β-glucocerebrosidase (GCase), cathepsin B (CTSB), and cathepsin D (CTSD) were analyzed in leukocytes, fibroblasts, and lysos

SUBMITTER: Machtel R 

PROVIDER: S-EPMC11251474 | biostudies-literature | 2024 Jul

REPOSITORIES: biostudies-literature