EUROPEAN TASK FORCE ON BRAIN AND NEURODEGENERATIVE LYSOSOMAL STORAGE DISEASES

摘要

A European Consortium and Foundation (BRAINS FOR BRAIN, B4B project) was organized a few years ago to address the Lysosomal Storage Disorders (LSDs), which are inherited metabolic disorders resulting from a functional deficit of lysosomal enzymes thus causing an accumulation of mucopolysaccharides within cell lysosomes which becomes responsible for cell apoptosis with time. These lysosomal enzymes are housekeeping molecules and thus their deficiency has important effects in all organs and in particular the central nervous system (CNS), liver, spleen, heart, bones are particularly affected.