Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Christian J. Hendriksz; Joseph Muenzer; Adeline Vanderver; Jonathan M. Davis; Barbara K. Burton; Nancy J. Mendelsohn; Nan Wang; Luying Pan; Arian Pano; Ann J. Barbier

doi:10.1016/j.ymgmr.2015.11.001

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Christian J. Hendriksz^*, Joseph Muenzer, Adeline Vanderver, Jonathan M. Davis, Barbara K. Burton, Nancy J. Mendelsohn, Nan Wang, Luying Pan, Arian Pano, Ann J. Barbier

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

26 Scopus citations

Abstract

In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449240). Data indicate that MPS II patients with cognitive impairment have elevated levels of CSF GAG, whereas those with the attenuated phenotype typically have levels falling between those of the cognitively affected patients and healthy controls.

Original language	English (US)
Pages (from-to)	103-106
Number of pages	4
Journal	Molecular Genetics and Metabolism Reports
Volume	5
DOIs	https://doi.org/10.1016/j.ymgmr.2015.11.001
State	Published - Dec 1 2015

Funding

All studies reported were funded and sponsored by Shire . The authors would like to thank David Viskochil, MD, PhD, University of Utah, School of Medicine for help in obtaining CSF samples for the work described in this manuscript. Editorial assistance to the authors was provided by Robin Smith, PhD, of The Curry Rockefeller Group, LLC, Tarrytown, New York, USA and this assistance was funded by Shire.

Keywords

Cerebrospinal fluid
Cognitive impairment
Glycosaminoglycans
Idursulfase
Inherited metabolic disease
Lysosomal storage disease
Mucopolysaccharidosis II

ASJC Scopus subject areas

Genetics
Endocrinology
Molecular Biology

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10.1016/j.ymgmr.2015.11.001

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Hendriksz, C. J., Muenzer, J., Vanderver, A., Davis, J. M., Burton, B. K., Mendelsohn, N. J., Wang, N., Pan, L., Pano, A., & Barbier, A. J. (2015). Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment. Molecular Genetics and Metabolism Reports, 5, 103-106. https://doi.org/10.1016/j.ymgmr.2015.11.001

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abstract = "In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449240). Data indicate that MPS II patients with cognitive impairment have elevated levels of CSF GAG, whereas those with the attenuated phenotype typically have levels falling between those of the cognitively affected patients and healthy controls.",

keywords = "Cerebrospinal fluid, Cognitive impairment, Glycosaminoglycans, Idursulfase, Inherited metabolic disease, Lysosomal storage disease, Mucopolysaccharidosis II",

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Hendriksz, CJ, Muenzer, J, Vanderver, A, Davis, JM, Burton, BK, Mendelsohn, NJ, Wang, N, Pan, L, Pano, A & Barbier, AJ 2015, 'Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment', Molecular Genetics and Metabolism Reports, vol. 5, pp. 103-106. https://doi.org/10.1016/j.ymgmr.2015.11.001

Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment. / Hendriksz, Christian J.; Muenzer, Joseph; Vanderver, Adeline et al.
In: Molecular Genetics and Metabolism Reports, Vol. 5, 01.12.2015, p. 103-106.

Research output: Contribution to journal › Article › peer-review

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AU - Hendriksz, Christian J.

AU - Muenzer, Joseph

AU - Vanderver, Adeline

AU - Davis, Jonathan M.

AU - Burton, Barbara K.

AU - Mendelsohn, Nancy J.

AU - Wang, Nan

AU - Pan, Luying

AU - Pano, Arian

AU - Barbier, Ann J.

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Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment

Abstract

Funding

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ASJC Scopus subject areas

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