Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms

Elsa G. Shapiro, Simon A. Jones, Maria L. Escolar

Research output: Contribution to journalReview articlepeer-review

33 Scopus citations

Abstract

The mucopolysaccharidoses (MPS) are a group of rare, inherited lysosomal storage disorders, caused by mutations in lysosomal enzymes involved in the degradation of glycosaminoglycans (GAGs). The resulting accumulation of GAGs in the body leads to widespread tissue and organ dysfunction. The spectrum, severity, and progression rate of clinical manifestations varies widely between and within the different MPS types. In addition to somatic signs and symptoms, which vary between the different MPS disorders, patients with MPS I, II, III, and VII present with significant neurological signs and symptoms, including impaired cognitive abilities, difficulties in language and speech, and/or behavioral and sleep problems. To effectively manage and develop therapies that target these neurological manifestations, it is of utmost importance to have a profound knowledge of their natural history and pathophysiology. This review describes the appearance and progression of neurological signs and symptoms in patients with MPS I, II, and III, based on presentations and discussions among an international group of experts during a meeting on the brain in MPS on April 28–30, 2016, and additional literature searches on this subject.

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalMolecular Genetics and Metabolism
Volume122
DOIs
StatePublished - Dec 2017

Bibliographical note

Funding Information:
This work was supported by BioMarin Pharmaceutical Inc.

Publisher Copyright:
© 2017 Elsevier Inc.

Keywords

  • Cognition disorders
  • Lysosomal storage diseases
  • Mucopolysaccharidoses
  • Neurobehavioral manifestations

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