Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

ABSTRACT:

Background

Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without treatment, Krabbe disease results in progressive neurodegeneration with reduced quality of life and early death. The purpose of this prospective study was to describe the natural progression of early onset Krabbe disease in a large cohort of patients.

Methods

Patients with early onset Krabbe disease were prospectively evaluated between 1999 and 2018. Data sources included diagnostic testing, parent questionnaires, standardized multidisciplinary neurodevelopmental assessments, and neuroradiological and neurophysiological tests.

Results

We evaluated 88 c

SUBMITTER: Beltran-Quintero ML 

PROVIDER: S-EPMC6378723 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature