TY - JOUR
T1 - Surgical management of neurological manifestations of mucopolysaccharidosis disorders
AU - Alden, Tord D.
AU - Amartino, Hernán
AU - Dalla Corte, Amauri
AU - Lampe, Christina
AU - Harmatz, Paul R.
AU - Vedolin, Leonardo
N1 - Funding Information:
Dr. Harmatz has been a consultant for BioMarin, Shire, Alexion, PTC, Ciesi, Armagen, Genzyme, and Inventiva; participated in symposia sponsored by BioMarin, Shire, Genzyme, PTC, and Alexion; received grant/research support from BioMarin, Alexion/Enobia, Shire, Sanofi-Genzyme, and Armagen; and received honoraria from BioMarin, Alexion/Enobia, Shire, Sanofi-Genzyme, PTC, Ciesi, and Inventiva.
Publisher Copyright:
© 2017 Elsevier Inc.
PY - 2017/12
Y1 - 2017/12
N2 - The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment. Management of secondary neurological manifestations often requires surgical correction of the underlying somatic cause. The present review discusses the surgical management of neurological disease in patients with MPS, including diagnostic imaging. Background information is derived from presentations and discussions during a meeting on the brain in MPS, attended by an international group of experts (April 28–30, 2016, Stockholm, Sweden), and additional literature searches.
AB - The mucopolysaccharidosis (MPS) disorders are ultra-rare lysosomal storage disorders associated with progressive accumulation of glycosaminoglycans (GAGs) in cells and tissues throughout the body. Clinical manifestations and progression rates vary widely across and within the different types of MPS. Neurological symptoms occur frequently, and may result directly from brain damage caused by infiltration of GAGs, or develop secondary to somatic manifestations such as spinal cord compression, hydrocephalus, and peripheral nerve entrapment. Management of secondary neurological manifestations often requires surgical correction of the underlying somatic cause. The present review discusses the surgical management of neurological disease in patients with MPS, including diagnostic imaging. Background information is derived from presentations and discussions during a meeting on the brain in MPS, attended by an international group of experts (April 28–30, 2016, Stockholm, Sweden), and additional literature searches.
KW - Diagnostic imaging
KW - Hydrocephalus
KW - Mucopolysaccharidosis
KW - Neurological disease
KW - Spinal cord compression
KW - Surgery
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U2 - 10.1016/j.ymgme.2017.09.011
DO - 10.1016/j.ymgme.2017.09.011
M3 - Review article
C2 - 29153846
AN - SCOPUS:85033779172
SN - 1096-7192
VL - 122
SP - 41
EP - 48
JO - Biochemical Medicine and Metabolic Biology
JF - Biochemical Medicine and Metabolic Biology
ER -
