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

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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

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

Molecular genetics and metabolism reports, 12/2015, Volume: 5, Issue: C

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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.

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