TY - JOUR
T1 - Developmental and behavioral aspects of mucopolysaccharidoses with brain manifestations — Neurological signs and symptoms
AU - Shapiro, Elsa G.
AU - Jones, Simon A.
AU - Escolar, Maria L.
N1 - Funding Information:
This work was supported by BioMarin Pharmaceutical Inc.
Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2017/12
Y1 - 2017/12
N2 - 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.
AB - 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.
KW - Cognition disorders
KW - Lysosomal storage diseases
KW - Mucopolysaccharidoses
KW - Neurobehavioral manifestations
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U2 - 10.1016/j.ymgme.2017.08.009
DO - 10.1016/j.ymgme.2017.08.009
M3 - Review article
C2 - 29074036
AN - SCOPUS:85032204822
SN - 1096-7192
VL - 122
SP - 1
EP - 7
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
ER -