Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

Cesar A.P.F. Alves; Maria Camilla Rossi-Espagnet; Francisco Perez; Amirreza Manteghinejad; James T. Peterson; Rebecca Ganetzky; Antonio Napolitano; Francesco Grassi; Ibrahim George-Sankoh; Harun Yildiz; Colleen Muraresku; Marni J. Falk; Diego Martinelli; Daniela Longo; Adeline Vanderver; Carlo Gandolfo; Russell P. Saneto; Amy Goldstein; Arastoo Vossough

doi:10.3174/ajnr.A8670

Research ArticlePEDIATRIC NEUROIMAGING

Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

Cesar A.P.F. Alves, Maria Camilla Rossi-Espagnet, Francisco Perez, Amirreza Manteghinejad, James T. Peterson, Rebecca Ganetzky, Antonio Napolitano, Francesco Grassi, Ibrahim George-Sankoh, Harun Yildiz, Colleen Muraresku, Marni J. Falk, Diego Martinelli, Daniela Longo, Adeline Vanderver, Carlo Gandolfo, Russell P. Saneto, Amy Goldstein and Arastoo Vossough

American Journal of Neuroradiology May 2025, DOI: https://doi.org/10.3174/ajnr.A8670

Cesar A.P.F. Alves

aFrom the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

bDivision of Neuroradiology, Department of Radiology (C.A.P.F.A.), The Boston Children’s Hospital-Harvard Medical School, Boston, Massachusetts

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Maria Camilla Rossi-Espagnet

mDiagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Francisco Perez

dDivision of Neuroradiology, Department of Radiology (F.P.), Texas Children’s Hospital, Houston, Texas

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Amirreza Manteghinejad

aFrom the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

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James T. Peterson

eMitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics (J.T.P., R.G., I.G.-S., C.M., M.J.F., A.G.), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

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Rebecca Ganetzky

lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Antonio Napolitano

fMedical Physics Unit (A.N., F.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Francesco Grassi

fMedical Physics Unit (A.N., F.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Ibrahim George-Sankoh

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Harun Yildiz

gDepartment of Radiology (H.Y.), Bursa Dortcelik Children’s Hospital, Turkey

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Colleen Muraresku

lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Marni J. Falk

lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Diego Martinelli

hDivision of Metabolism (D.M.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Daniela Longo

mDiagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Adeline Vanderver

iDivision of Neurology (A. Vanderver), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

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Carlo Gandolfo

cFunctional and Interventional Neuroimaging Unit (C.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

mDiagnostic and Interventional Neuroradiology Unit (M.C.R.-E., D.L., C.G.) Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy

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Russell P. Saneto

kDivision of Pediatric Neurology (R.P.S.), Seattle Children’s Hospital, University of Washington, Seattle, Washington.

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Amy Goldstein

lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania

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Arastoo Vossough

aFrom the Division of Neuroradiology, Department of Radiology (C.A.P.F.A., A.M., A. Vossough), The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania

jDepartments of Pediatrics and Radiology (A. Vossough), Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania

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Single Large-Scale Mitochondrial Deletion Syndromes: Neuroimaging Phenotypes and Longitudinal Progression in Pediatric Patients

American Journal of Neuroradiology May 2025, DOI: 10.3174/ajnr.A8670

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American Journal of Neuroradiology May 2025, DOI: 10.3174/ajnr.A8670

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