Journal article

Investigation of Brain Iron in Niemann-Pick Type C: A 7T Quantitative Susceptibility Mapping Study

P Ravanfar, WT Syeda, RJ Rushmore, B Moffat, AE Lyall, AH Merritt, GA Devenyi, MM Chakravarty, P Desmond, VL Cropley, N Makris, ME Shenton, AI Bush, D Velakoulis, C Pantelis, M Walterfang

American Journal of Neuroradiology | AMER SOC NEURORADIOLOGY | Published : 2023

Abstract

BACKGROUND AND PURPOSE: While brain iron dysregulation has been observed in several neurodegenerative disorders, its association with the progressive neurodegeneration in Niemann-Pick type C is unknown. Systemic iron abnormalities have been reported in patients with Niemann-Pick type C and in animal models of Niemann-Pick type C. In this study, we examined brain iron using quantitative susceptibility mapping MR imaging in individuals with Niemann-Pick type C compared with healthy controls. MATERIALS AND METHODS: A cohort of 10 patients with adolescent- and adult-onset Niemann-Pick type C and 14 age- and sex-matched healthy controls underwent 7T brain MR imaging with T1 and quantitative susce..

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Grants

Awarded by National Institutes of Health


Funding Acknowledgements

The study was supported by a Royal Melbourne Hospital grant-in-aid (GIA-030H2016)to C.P., V.L.C., B.M., P.D.) and the National Health and Medical Research Council program grant to C.P. (ID: 1150083). V.L.C. is supported by a National Health and Medical Research Council Investigator Grant (1177370) and a University of Melbourne Dame Kate Campbell Fellowship. N.M. is supported by National Institute of Health grants: R01MH125860, R01MH112748, R01MH111917, K24MH116366, R01AG042512,R21DA042271. A.I.B. is supported by a National Health and Medical Research Council L3 & nbsp;Investigator Grant (1194028) and by the generous donation of Mr Douglas Stutt to the University of Melbourne. C.P. is supported by National Health and Medical Research Council L3 Investigator Grant (1196508). A.E.L. is supported by National Institute of Health grants, National Institute of Mental Health 1 K01 MH115247-01A1 and 1K24MH110807-01A1, a Brain and Behavior Research Foundation Young Investigator Award, and a Brigham and Women's Department of Psychiatry Internal Funding Award. R.J.R. is supported by National Institute of Mental Health grant R01MH112748. M.E.S. is supported by the National Institute of Health grant 5 U01MH109977