DOI: 10.5281/zenodo.4647609
title: Cerebral expression of metabotropic glutamate receptor subtype 5 in idiopathic autism spectrum disorder and fragile X syndrome: A pilot study

description: Table S1. Concomitant medications of participants with fragile X syndrome (FXS) from the Institute for Neurodegenerative Disorders Table S2. Demographic and clinical characteristics of participants from the Institute for Neurodegenerative Disorders (IND) Table S3. Demographic and clinical data of participants from Johns Hopkins University (JHU) Table S4. Genetic and psychological assessments of participants from the Institute for Neurodegenerative Disorders Table S5. Genetic and psychological assessments of participants with fragile X syndrome and family members from Johns Hopkins University. Table S6. Positron emission tomography (PET) data and analyses for participants from the Institute for Neurodegenerative Disorders Table S7. Positron emission tomography (PET) data and analysis of participants from Johns Hopkins University The authors thank Flora Tassone, Ph.D., Department of Biochemistry and Molecular Medicine, School of Medicine, UC Davis Health, Sacramento, California, for providing genetic and protein data about participants.
description: This research was made possible by a Radiology BRidge/Development Funding Initiative to STimulate and Advance Research (RAD BriteStar Bridge) Award from the Johns Hopkins University School of Medicine, Baltimore, Maryland, to JRB; the Intellectual & Developmental Disabilities Research Center (U54 HD079123), Kennedy Krieger Institute, Johns Hopkins Medical Institutions. Baltimore, Maryland, to JRB; and the Johns Hopkins Institute for Clinical and Translational Research (ICTR), Johns Hopkins University School of Medicine, Baltimore, Maryland, to JRB, which is funded in part by Grant Number UL1 TR003098 from the National Center for Advancing Translational Sciences (NCATS) a component of the National Institutes of Health (NIH), and NIH Roadmap for Medical Research. Its contents are solely the responsibility of the authors and do not necessarily represent the official view of the Johns Hopkins ICTR, NCATS or NIH.
description: {"references": ["Benedict RHB et al. (1998) The Hopkins Verbal Learning Test-Revised: normative data and analysis of inter-form and test-retest reliability. Clin. Neuropsychol. 12: 43-55.", "Brandt J et al. (1998) Hopkins Verbal Learning Test-Revised (TM) [HVLT-R(TM)]. Par, Inc., Lutz, Florida, USA", "Bra\u0161i\u0107, J.R.; Nandi, A.; Russell, D.S.; Jennings, D.; Barret, O.; Martin, S.D.; Slifer, K.; Sedlak, T.; Seibyl, J.P.; Wong, D.F.; Budimirovic, D.B. Cerebral expression of metabotropic glutamate receptor subtype 5 in idiopathic autism spectrum disorder and fragile X syndrome: A pilot study. Int. J. Mol. Sci. 2021; 22: 2863. https://doi.org/10.3390/ijms22062863", "Bra\u0161i\u0107, J.R.; Nandi, A.; Russell, D.S.; Jennings, D.; Barret, O.; Mathur, A.; Slifer, K.; Sedlak, T.; Martin, S.D.; Brinson, Z.; Vyas, P.; Seibyl, J.P.; Berry-Kravis, E.M.; Wong, D.F.; Budimirovic, D.B. Reduced cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome. Brain Sci. 2020; 10 (12): 988. https://doi.org/10.3390/brainsci10120899", "Cambridge Cognition Ltd. Cambridge Neuropsychological Test Automated Battery (CANTAB). Cambridge Cognition Ltd., Cambridge, UK, 2020. Available online: www.cambridgecognition.com (accessed 26 September 2020)", "Deb S et al. (2007) Dementia Screening Questionnaire for Individuals with Intellectual Disabilities. Br J Psychiatry 190: 440-444. DOI: 10.1192/bjp.bp.106.024984. PMID: 17470960", "Fatemi SH, et al. Metabotropic glutamate receptor 5 tracer [18F]-FPEB displays increased binding potential in postcentral gyrus and cerebellum of male individuals with autism: a pilot PET study. Cerebellum Ataxias 2018, 5, 3. doi: 10.1186/s40673-018-0082-1. PMID: 29449954", "Folstein MF et al. (1975) \"Mini-mental state\". A practical method for grading the cognitive state of patients for the clinician. J. Psychiatr. Res. 12: 189-198. DOI: 10.1016/0022-3956(75)09226-6. PMID: 1202204", "Ichise M, et al. Strategies to improve neuroreceptor parameter estimation by linear regression analysis. J. Cereb. Blood Flow Metab. 2002, 22 1271-1281. doi: 10.1097/01.WCB.0000038000.34930.4E. PMID: 1236866", "Innis, R.B.; Cunninghamm V.J.; Delforge, J.; Fujita, M.; Gjedde, A.; Gunn, R.N.; Holden, J.; Houle, S.; Huang, S.C.; Ichise, M.; Iida, H.; Ito, H.; Kimura, Y.; Koeppe, R.A.; Knudsen, G.M.; Knuuti, J.; Lammertsma, A.A.; Laruelle, M.; Logan, J.; Maguire, R.P.; Mintun, M.A.; Morris, E.D.; Parsey, R.; Price, J.C.; Slifstein, M.; Sossi, V.; Suhara, T.; Votaw, J.R.; Wong, D.F.; Carson, R.E. Consensus nomenclature for in vivo imaging of reversibly binding radioligands. J. Cereb. Blood Flow Metab. 2007, 27, 1533-1539. doi: 10.1038/sj.jcbfm.9600493. Epub 2007 May 9. PMID: 17519979.", "Logan J et al., 1996. Distribution volume ratios without blood sampling from graphical analysis of PET data. J. Cereb. Blood Flow Metab. 1996, 16, 834-840. doi: 10.1097;00004647-199609000-00008. PMID: 8784228", "Logan J et al., 2011.The use of alternative forms of graphical analysis to balance bias and precision in PET images. J. Cereb. Blood Flow Metab. 2011, 31, 535-546. doi:10.1038/jcbfm.2010.123. PMID: 20808318.", "Lord C et al. (2012) Autism Diagnostic Observation Schedule, 2nd Edition (ADOS-2). Western Psychological Services (WPS), Torrance, California, USA", "Roid GH. Stanford-Binet Intelligence Scales, 5th Edition (SB-5). Western Psychological Services (WPS), Torrance, California, USA, 2003", "Shapiro AM et al. (1999) Construct and concurrent validity of the Hopkins Verbal Learning Test-revised. Clin. Neuropsychol. 13: 348-358. DOI: 10.1076/clin.13.3.348.1749. PMID: 10726605", "Sparrow SS et al. (2020) Vineland Adaptive Behavior Scales, 3rd Edition (Vineland-3). Pearson, San Antonio, Texas, USA", "Sullivan J et al. Test-retest evaluation of [F-18] FPEB, a PET tracer for the mGluR5 receptors in humans. J. Cereb. Blood Flow Metab. 2012, 32 (supplement 1), S122-S123 [abstract]", "Sullivan JM et al. Kinetic analysis of the metabotropic glutamate subtype 5 tracer [18F]FPEB in bolus and bolus plus-constant-infusion studies in humans. J. Cereb. Blood Flow Metab. 2013, 33, 532-541. doi: 10.1038/jcbfm.2012.195. PMID: 23250105.", "Wellcome Centre for Human Neuroimaging, UCL Queen Square Institute of Neurology, London, UK. Statistical Parametric Mapping (SPM). 2020. Available online: http://www.fil.ion.ucl.ac.uk/spm/", "Wienhard K et al. The ECAT EXACT HR: performance of a new high resolution positron scanner. J. Comput. Assist. Tomogr. 1994, 18, 110-118. PMID: 8282858", "Wong, D.F.; Waterhouse, R.; Kuwabara, H.; Kim, J.; Bra\u0161i\u0107, J.R.; Chamroonrat, W.; Stabins, M.; Holt, D.P.; Dannals, R.F.; Hamill, T.G.; Mozley, P.D. 18F-FPEB, a PET radiopharmaceutical for quantifying metabotropic glutamate 5 receptors: a first-in-human study of radiochemical safety, biokinetics, and radiation dosimetry. J. Nucl. Med. 2013, 54, 388-396. doi: 10.2967/jnumed.112.107995. Epub 2013 Feb 12. PMID: 23404089"]}