DOI: 10.5281/zenodo.5792324
title: Fragile X Mental Retardation Protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome

description: Legends. Fragile X Mental Retardation Protein and cerebral expression of metabotropic glutamate receptor subtype 5 in men with fragile X syndrome Table S1. Concomitant medications of participants from the Institute for Neurodegenerative Disorders (IND) Table S2. Demographic and clinical characteristics of participants from the Institute for Neurodegenerative Disorders (IND) Table S3. Demographic and clinical characteristics of participants from the Johns Hopkins University (JHU) Table S4. Genetic and psychological assessments of participants from the Institute for Neurodegenerative Disorders (IND) Table S5. Genetic and psychological assessments of participants from the Johns Hopkins University (JHU) Table S6. Fragile X Mental Retardation Protein (FMRP) in nanogram per microgram total protein for ten healthy people with typical development (TD) with normal CGG repeat sizes [range (20, 37)] utilizing the same analyses as the other participants Table S7. Positron emission tomography (PET) data and analyses for participants from the Institute for Neurodegenerative Disorders (IND) Table S8. Positron emission tomography (PET) data and analysis of participants from the Johns Hopkins University (JHU) Table S9. Correlation coefficients between Fragile X Mental Retardation Protein (FMRP) (Table S4) and [18F]FPEB uptake (Wong DF et al. 2013) for participants with fragile X syndrome (Table S7) 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; and the Intellectual and Developmental Disabilities Research Center (U54 HD079123), Kennedy Krieger Institute, Johns Hopkins Medical Institutions. Baltimore, Maryland, to JRB.
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. 1998; 12: 43-55", "Brandt J et al. (1998) Hopkins Verbal Learning Test-Revised (TM) [HVLT-R(TM)]. Par, Inc., Lutz, Florida, USA, 1998", "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. (2021) 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. (2020 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. (2020) 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 2007; 190: 440-444. DOI: 10.1192/bjp.bp.106.024984. PMID: 17470960", "Fatemi SH, et al. (2018) 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. 1975; 12: 189-198. DOI: 10.1016/0022-3956(75)09226-6. PMID: 1202204", "Ichise M, et al. (2002) 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. (2007) 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, 2012", "Roid GH. (2003) 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. 1999; 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, 2020", "Stangroom J (2021) Social Sciences Statistics. https://www.socscistatistics.com/test/pearson/default2.asps", "Sullivan J et al. (2012) 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. (2013) 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. (2020) Statistical Parametric Mapping (SPM). 2020. Available online: http://www.fil.ion.ucl.ac.uk/spm/", "Wienhard K et al. (1994) 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. (2013) 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"]}