{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T14:16:25Z","timestamp":1790691385701,"version":"4.1.0"},"reference-count":10,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2011,2,12]],"date-time":"2011-02-12T00:00:00Z","timestamp":1297468800000},"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":[[2011,4]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Biomarkers to monitor neurological dysfunction in Neuronopathic Gaucher disease (NGD) are lacking. Diffusion tensor imaging (DTI) is a technique which allows us to probe the microstructure of the white\u2010matter of the brain, in\u2010vivo. The aim of this study was to investigate the value of DTI to visualise and quantify white matter integrity in children with NGD and Type I Gaucher.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>DTI was performed and fractional anisotropy (FA), mean diffusivity (MD), axial (\u03bb<jats:sub>axial<\/jats:sub>) diffusivity and radial (\u03bb<jats:sub>radial<\/jats:sub>) diffusivity maps calculated. Tract\u2010based spatial statistics (TBSS) was used to perform a voxel\u2010wise statistical analysis of the main white matter structures compared to age\u2010sex matched control groups.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>The study was performed at Great Ormond Street Children's Hospital NHS Trust<\/jats:p><\/jats:sec><jats:sec><jats:title>Patients<\/jats:title><jats:p>Four NGD and three Type I Gaucher paediatric patients were recruited<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The findings suggest the presence of microstructural white matter changes in NGD patients primarily in the middle cerebellar peduncles compared to an age\u2010sex matched control group. This finding is relevant to the clinical manifestation of ataxia seen in NGD. Diffuse non\u2010specific changes were seen in the Type I patients, but without a focal point.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>This study is the first to use DTI to examine the Gaucher brain. While the numbers studied are small, the results suggest that DTI may be an attractive surrogate marker of NGD, worthy of further exploration for use in clinical studies.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-011-9288-6","type":"journal-article","created":{"date-parts":[[2011,2,11]],"date-time":"2011-02-11T08:49:14Z","timestamp":1297414154000},"page":"549-553","source":"Crossref","is-referenced-by-count":26,"title":["Brain white matter abnormalities in paediatric Gaucher Type I and Type III using diffusion tensor imaging"],"prefix":"10.1002","volume":"34","author":[{"given":"Elin Haf","family":"Davies","sequence":"first","affiliation":[{"name":"Institute of Child Health University College London 30 Guildford Street London WC1N 1EH UK"},{"name":"Great Ormond Street Hospital for Children NHS Trust London WC1N 3JH UK"},{"name":"25a Ritson Rd London E8 1DE UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kiran K.","family":"Seunarine","sequence":"additional","affiliation":[{"name":"Institute of Child Health University College London 30 Guildford Street London WC1N 1EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tina","family":"Banks","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Trust London WC1N 3JH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chris A.","family":"Clark","sequence":"additional","affiliation":[{"name":"Institute of Child Health University College London 30 Guildford Street London WC1N 1EH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashok","family":"Vellodi","sequence":"additional","affiliation":[{"name":"Great Ormond Street Hospital for Children NHS Trust London WC1N 3JH UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,2,12]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmri.1076"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.1910360612"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.chi.0000246064.93200.e8"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuroimage.2006.02.024"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-007-0595-x"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2004.04.011"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00234-009-0548-1"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-006-0118-y"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1148\/radiology.218.3.r01mr14809"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cortex.2009.03.008"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9288-6","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1007\/s10545-011-9288-6","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-011-9288-6","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T20:38:46Z","timestamp":1694810326000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-011-9288-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,2,12]]},"references-count":10,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2011,4]]}},"alternative-id":["10.1007\/s10545-011-9288-6"],"URL":"https:\/\/doi.org\/10.1007\/s10545-011-9288-6","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,2,12]]}}}