Severe central nervous system demyelination in Sanfilippo disease.

ABSTRACT:

Introduction

Chronic progressive neuroinflammation is a hallmark of neurological lysosomal storage diseases, including mucopolysaccharidosis III (MPS III or Sanfilippo disease). Since neuroinflammation is linked to white matter tract pathology, we analyzed axonal myelination and white matter density in the mouse model of MPS IIIC Hgsnat^P304L and post-mortem brain samples of MPS III patients.

Methods

Brain and spinal cord tissues of human MPS III patients, 6-month-old Hgsnat^P304L mice and age- and sex-matching wild type mice were analyzed by immunofluorescence to assess levels of myelin-associated proteins, primary and secondary storage materials, and levels of microgliosis. Corpus callosum (CC) region was studie

SUBMITTER: Taherzadeh M 

PROVIDER: S-EPMC10756675 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature