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Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

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Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders. / Bigger, Brian W.; Begley, David J.; Virgintino, Daniela et al.

In: MOLECULAR GENETICS AND METABOLISM, 01.01.2018.

Research output: Contribution to journalArticlepeer-review

Harvard

Bigger, BW, Begley, DJ, Virgintino, D & Pshezhetsky, AV 2018, 'Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders', MOLECULAR GENETICS AND METABOLISM. https://doi.org/10.1016/j.ymgme.2018.08.003

APA

Bigger, B. W., Begley, D. J., Virgintino, D., & Pshezhetsky, A. V. (Accepted/In press). Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders. MOLECULAR GENETICS AND METABOLISM. https://doi.org/10.1016/j.ymgme.2018.08.003

Vancouver

Bigger BW, Begley DJ, Virgintino D, Pshezhetsky AV. Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders. MOLECULAR GENETICS AND METABOLISM. 2018 Jan 1. https://doi.org/10.1016/j.ymgme.2018.08.003

Author

Bigger, Brian W. ; Begley, David J. ; Virgintino, Daniela et al. / Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders. In: MOLECULAR GENETICS AND METABOLISM. 2018.

Bibtex Download

@article{b7fbd0929cf04ee2bf408c42bb2dc4f2,
title = "Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders",
abstract = "Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.",
keywords = "Gangliosides, Heparan sulfate proteoglycans, Mucopolysaccharidosis, Neuropathology",
author = "Bigger, {Brian W.} and Begley, {David J.} and Daniela Virgintino and Pshezhetsky, {Alexey V.}",
year = "2018",
month = jan,
day = "1",
doi = "10.1016/j.ymgme.2018.08.003",
language = "English",
journal = "MOLECULAR GENETICS AND METABOLISM",
issn = "1096-7192",
publisher = "ACADEMIC PRESS INC",

}

RIS (suitable for import to EndNote) Download

TY - JOUR

T1 - Anatomical changes and pathophysiology of the brain in mucopolysaccharidosis disorders

AU - Bigger, Brian W.

AU - Begley, David J.

AU - Virgintino, Daniela

AU - Pshezhetsky, Alexey V.

PY - 2018/1/1

Y1 - 2018/1/1

N2 - Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.

AB - Mucopolysaccharidosis (MPS) disorders are caused by deficiencies in lysosomal enzymes, leading to impaired glycosaminoglycan (GAG) degradation. The resulting GAG accumulation in cells and connective tissues ultimately results in widespread tissue and organ dysfunction. The seven MPS types currently described are heterogeneous and progressive disorders, with somatic and neurological manifestations depending on the type of accumulating GAG. Heparan sulfate (HS) is one of the GAGs stored in patients with MPS I, II, and VII and the main GAG stored in patients with MPS III. These disorders are associated with significant central nervous system (CNS) abnormalities that can manifest as impaired cognition, hyperactive and/or aggressive behavior, epilepsy, hydrocephalus, and sleeping problems. This review discusses the anatomical and pathophysiological CNS changes accompanying HS accumulation as well as the mechanisms believed to cause CNS abnormalities in MPS patients. The content of this review is based on presentations and discussions on these topics during a meeting on the brain in MPS attended by an international group of MPS experts.

KW - Gangliosides

KW - Heparan sulfate proteoglycans

KW - Mucopolysaccharidosis

KW - Neuropathology

UR - http://www.scopus.com/inward/record.url?scp=85052082216&partnerID=8YFLogxK

U2 - 10.1016/j.ymgme.2018.08.003

DO - 10.1016/j.ymgme.2018.08.003

M3 - Article

AN - SCOPUS:85052082216

JO - MOLECULAR GENETICS AND METABOLISM

JF - MOLECULAR GENETICS AND METABOLISM

SN - 1096-7192

ER -

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