{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,12]],"date-time":"2026-03-12T01:18:23Z","timestamp":1773278303837,"version":"3.50.1"},"reference-count":33,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T00:00:00Z","timestamp":1364169600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2013,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome (OMIM 309900), is a rare, X\u2010linked lysosomal storage disorder caused by a deficiency of iduronate\u20102\u2010sulfatase (IDS; EC 3.1.6.13), which is involved in the lysosomal degradation of glycosaminoglycans (GAG). Although intermittent intrathecal (IT) injection of the enzyme has been introduced as a method to overcome the blood\u2010brain barrier, continuous IT infusion of the enzyme would be more physiologic. This study was performed to investigate responses in the brain of MPS II mice to varying doses of continuous IT infusion of recombinant human IDS (rh\u2010IDS) in MPS II mice by osmotic pump in three different doses (2.4, 4.8, and 12\u2009\u00b5g\/day) of rh\u2010IDS for 3 weeks. The results showed that the group treated with 12\u2009\u00b5g\/day doses of rh\u2010IDS demonstrated decreased GAG concentrations compared to the untreated KO mice group (<jats:italic>P<\/jats:italic>\u2009=\u20090.003). After 3 weeks of continuous IT ERT, the brain tissues of the high\u2010dose IT\u2010treated KO mice showed a reduction of vacuolation in the cerebral cortex, thalamus and cerebellar cortex, which was not observed in the low\u2010 and medium\u2010dose KO mice groups. Moreover, the anti\u2010NeuN signal representing intact neuron was restored in the cortexes of the high\u2010dose group. In conclusion, continuous IT infusion of the deficient enzyme was effective in improving CNS defects in the MPS II mice, and could be a valuable therapeutic method for treating neurological deterioration in patients with MPS II. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.35869","type":"journal-article","created":{"date-parts":[[2013,3,25]],"date-time":"2013-03-25T15:12:51Z","timestamp":1364224371000},"page":"1036-1043","source":"Crossref","is-referenced-by-count":24,"title":["Improvement of <scp>CNS<\/scp> Defects Via Continuous Intrathecal Enzyme Replacement by Osmotic Pump in Mucopolysaccharidosis Type <scp>II<\/scp> Mice"],"prefix":"10.1002","volume":"161","author":[{"given":"Young Bae","family":"Sohn","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Ajou University Hospital Suwon South 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