{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:40:23Z","timestamp":1781743223407,"version":"3.54.5"},"reference-count":66,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2019,12,17]],"date-time":"2019-12-17T00:00:00Z","timestamp":1576540800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["UL1TR000114"],"award-info":[{"award-number":["UL1TR000114"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000070","name":"National Institute of Biomedical Imaging and Bioengineering","doi-asserted-by":"publisher","award":["P41 EB015894"],"award-info":[{"award-number":["P41 EB015894"]}],"id":[{"id":"10.13039\/100000070","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U54NS065768"],"award-info":[{"award-number":["U54NS065768"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000062","name":"National Institute of Diabetes and Digestive and Kidney Diseases","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000062","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100006108","name":"National Center for Advancing Translational Sciences","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100006108","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004319","name":"Pfizer","doi-asserted-by":"publisher","award":["WI206915"],"award-info":[{"award-number":["WI206915"]}],"id":[{"id":"10.13039\/100004319","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2020,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:label\/><jats:p>Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase, is classically considered non\u2010neuronopathic. However, current evidence challenges this view. Multiple studies show that mutations in <jats:italic>GBA1<\/jats:italic> gene and decreased glucocerebrosidase activity are associated with increased risk for Parkinson disease. We tested the hypothesis that subjects with GD1 will show neurochemical abnormalities consistent with cerebral involvement. We performed Magnetic Resonance Spectroscopy at 7 T to quantify neurochemical profiles in participants with GD1 (<jats:italic>n<\/jats:italic> = 12) who are on stable therapy. Age and gender matched healthy participants served as controls (<jats:italic>n<\/jats:italic> = 13). Neurochemical profiles were obtained from parietal white matter (PWM), posterior cingulate cortex (PCC), and putamen. Further, in the GD1 group, the neurochemical profiles were compared between individuals with and without a single L444P allele. We observed significantly lower levels of key neuronal markers, <jats:italic>N<\/jats:italic>\u2010acetylaspartate, \u03b3\u2010aminobutyric acid, glutamate and glutamate\u2010to\u2010glutamine ratio in PCC of participants with GD1 compared to healthy controls (<jats:italic>P<\/jats:italic>\u2009&lt;\u2009.015). Glutamate concentration was also lower in the putamen in GD1 (<jats:italic>P<\/jats:italic> = .01). Glucose + taurine concentration was significantly higher in PWM (<jats:italic>P<\/jats:italic> = .04). Interestingly, individuals without L444P had significantly lower aspartate and <jats:italic>N<\/jats:italic>\u2010acetylaspartylglutamate in PCC (both <jats:italic>P<\/jats:italic>\u2009&lt;\u2009.001), although this group was 7\u2009years younger than those with an L444P allele. This study demonstrates neurochemical abnormalities in individuals with GD1, for which clinical and prognostic significance remains to be determined. Further studies in a larger cohort are required to confirm an association of neurochemical levels with mutation status and glucocerebrosidase structure and function.<\/jats:p><\/jats:sec><jats:sec><jats:title>Synopsis<\/jats:title><jats:p>Ultrahigh field magnetic resonance spectroscopy reveals abnormalities in neurochemical profiles in patients with GD1 compared to matched healthy controls.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12182","type":"journal-article","created":{"date-parts":[[2019,10,15]],"date-time":"2019-10-15T22:49:19Z","timestamp":1571179759000},"page":"564-573","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy"],"prefix":"10.1002","volume":"43","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-1692-1539","authenticated-orcid":false,"given":"Reena V.","family":"Kartha","sequence":"first","affiliation":[{"name":"Center for Orphan Drug Research College of Pharmacy, University of Minnesota  Minneapolis Minnesota"},{"name":"Department of Experimental and Clinical Pharmacology College of Pharmacy, University of Minnesota  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James","family":"Joers","sequence":"additional","affiliation":[{"name":"Center for Magnetic Resonance Research, Department of Radiology University of Minnesota  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia R.","family":"Terluk","sequence":"additional","affiliation":[{"name":"Center for Orphan Drug Research College of Pharmacy, University of Minnesota  Minneapolis Minnesota"},{"name":"Department of Experimental and Clinical Pharmacology College of Pharmacy, University of Minnesota  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abigail","family":"Travis","sequence":"additional","affiliation":[{"name":"Center for Orphan Drug Research College of Pharmacy, University of Minnesota  Minneapolis Minnesota"},{"name":"Department of Experimental and Clinical Pharmacology College of Pharmacy, University of Minnesota  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kyle","family":"Rudser","sequence":"additional","affiliation":[{"name":"Division of Biostatistics University of Minnesota  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul J.","family":"Tuite","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Minnesota  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neal J.","family":"Weinreb","sequence":"additional","affiliation":[{"name":"Department of Human Genetics and Medicine (Hematology) Leonard Miller School of Medicine of University of Miami  Miami Florida"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeanine R.","family":"Jarnes","sequence":"additional","affiliation":[{"name":"Department of Experimental and Clinical Pharmacology College of Pharmacy, University of Minnesota  Minneapolis Minnesota"},{"name":"University of Minnesota Medical Center\/Fairview Health Systems  Minneapolis Minnesota"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James C.","family":"Cloyd","sequence":"additional","affiliation":[{"name":"Center for Orphan Drug Research College of Pharmacy, University of Minnesota  Minneapolis Minnesota"},{"name":"Department of Experimental and Clinical Pharmacology College of Pharmacy, University of Minnesota  Minneapolis Minnesota"},{"name":"Department of Human Genetics and Medicine (Hematology) Leonard Miller School of Medicine of University of Miami  Miami 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