{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:20:34Z","timestamp":1790727634548,"version":"4.1.0"},"reference-count":67,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2008,7,13]],"date-time":"2008-07-13T00:00:00Z","timestamp":1215907200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hunter disease (mucopolysaccharidosis type II, MPS II) is an X\u2010linked lysosomal storage disease caused by deficiency of iduronate\u20102\u2010sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are normal at birth, and symptoms occur between 2 and 10 years of age. Typical symptoms include coarse facies with enlarged tongue and prominent forehead as well as a short, stocky built stature with short neck. The cardiovascular, respiratory and gastrointestinal systems may be affected, and oral, dermatological and psychiatric as well as neurological complications are described. Life expectancy is markedly reduced and may be limited to 12 years for severely affected patients. The most common causes of death are airway obstruction and cardiac failure. The most severe symptoms may result from neurological symptoms or complications including hydrocephalus, spinal cord compression, cervical myelopathy, optic nerve compression, and hearing impairment. Patients may also develop carpal tunnel syndrome, sleep apnoea, seizures or mental retardation. This review describes characteristic neurological manifestations in MPS II and its underlying pathophysiology. In addition, an appraisal is given whether or not enzyme replacement therapy may be able to improve in particular the neurological symptoms of Hunter disease.<\/jats:p>","DOI":"10.1007\/s10545-008-0878-x","type":"journal-article","created":{"date-parts":[[2008,7,10]],"date-time":"2008-07-10T21:15:14Z","timestamp":1215724514000},"page":"473-480","source":"Crossref","is-referenced-by-count":80,"title":["Neurological findings in Hunter disease: Pathology and possible therapeutic effects reviewed"],"prefix":"10.1002","volume":"31","author":[{"given":"S.","family":"Al Sawaf","sequence":"first","affiliation":[{"name":"Department of General Pediatrics, University Children's Hospital Heinrich\u2010Heine\u2010University  Moorenstr. 5 D\u00fcsseldorf 20 D\u201040225 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Mayatepek","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children's Hospital Heinrich\u2010Heine\u2010University  Moorenstr. 5 D\u00fcsseldorf 20 D\u201040225 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B.","family":"Hoffmann","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children's Hospital Heinrich\u2010Heine\u2010University  Moorenstr. 5 D\u00fcsseldorf 20 D\u201040225 Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,13]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1974.03900060189006"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0716-6"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2001.112171"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cyto.2005.03.006"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-006-0403-z"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410070418"},{"key":"e_1_2_1_8_1","first-page":"385","article-title":"Compressive meningeal hypertrophy in mucopolysaccharidosis","volume":"8","author":"Banna M","year":"1987","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.67.3.174"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1528-1167.2007.01074.x"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(90)32400-4"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00690379"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.12.012"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2006.tb02232.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"crossref","unstructured":"FisherRC HornerRL WoodVE(1974)The hand in mucopolysaccharide disorders.Clin Orthop Relat Res191\u2013199..","DOI":"10.1097\/00003086-197410000-00020"},{"key":"e_1_2_1_16_1","first-page":"251","article-title":"Communicating hydrocephalus in children with genetic inborn errors of metabolism","volume":"1","author":"Fowler GW","year":"1975","journal-title":"Childs Brain"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380020214"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1965.00970040598003"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1967.00980020505013"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712147105"},{"key":"e_1_2_1_21_1","first-page":"65","article-title":"The otologic manifestations of mucopolysaccharidoses","volume":"2","author":"Hayes E","year":"1980","journal-title":"Am J Otol"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-0092"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-924556"},{"key":"e_1_2_1_24_1","first-page":"104\u20131","article-title":"A rare disease in two brothers","volume":"10","author":"Hunter C","year":"1917","journal-title":"R Soc Med"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199710000-00010"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.07.003"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1974.00490420084010"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.braindev.2006.08.015"},{"key":"e_1_2_1_29_1","first-page":"133","article-title":"Ocular manifestations and pathology of systemic mucopolysaccharidoses","volume":"12","author":"Kenyon KR","year":"1976","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-2008-1071352"},{"key":"e_1_2_1_31_1","first-page":"1285","article-title":"The mucopolysaccharidoses: characterization by cranial MR imaging","volume":"14","author":"Lee C","year":"1993","journal-title":"AJNR Am J Neuroradiol"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1097\/00006534-197759020-00015"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-004-1215-1"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000232477.37660.fb"},{"key":"e_1_2_1_35_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819609057874"},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jocn.2005.12.038"},{"key":"e_1_2_1_37_1","first-page":"455","article-title":"The Hunter syndrome in females: is there an autosomal recessive form of iduronate sulfatase deficiency?","volume":"29","author":"Neufeld EF","year":"1977","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_38_1","first-page":"3421","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Neufeld E","year":"2001"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.252784899"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.09.010"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0194-5998(98)70371-7"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9260(96)80246-7"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.07-0040"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.125.10.1353"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF03160098"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.192582899"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.2007.00212.x"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1177\/000348948509400508"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200103000-00008"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-006-0316-8"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1971.01000010166009"},{"key":"e_1_2_1_52_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M308523200"},{"key":"e_1_2_1_53_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"e_1_2_1_54_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0705611104"},{"key":"e_1_2_1_55_1","first-page":"187","article-title":"Hydrocephalus and shunt placement","volume":"137","author":"Van Aerde J","year":"1983","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_56_1","first-page":"93","article-title":"Hydrocephalus in Hunter syndrome","volume":"34","author":"Van Aerde J","year":"1981","journal-title":"Acta Paediatr Belg"},{"key":"e_1_2_1_57_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000269782.80107.fe"},{"key":"e_1_2_1_58_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A0510"},{"key":"e_1_2_1_59_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005525931994"},{"key":"e_1_2_1_60_1","doi-asserted-by":"publisher","DOI":"10.1002\/jnr.21134"},{"key":"e_1_2_1_61_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0506892102"},{"key":"e_1_2_1_62_1","doi-asserted-by":"publisher","DOI":"10.1288\/00005537-194203000-00005"},{"key":"e_1_2_1_63_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2006-2156"},{"key":"e_1_2_1_64_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00204183"},{"key":"e_1_2_1_65_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.6.445"},{"key":"e_1_2_1_66_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.57.11.828"},{"key":"e_1_2_1_67_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1983.tb13794.x"},{"key":"e_1_2_1_68_1","doi-asserted-by":"publisher","DOI":"10.1177\/0883073807300528"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-008-0878-x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T07:52:49Z","timestamp":1694764369000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-008-0878-x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,13]]},"references-count":67,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1007\/s10545-008-0878-x"],"URL":"https:\/\/doi.org\/10.1007\/s10545-008-0878-x","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,13]]}}}