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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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  • ORCID record for Cesar A.P.F. Alves
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
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
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
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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Harun Yildiz
gDepartment of Radiology (H.Y.), Bursa Dortcelik Children’s Hospital, Turkey
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Colleen Muraresku
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
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
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
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
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
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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Article Information

DOI 
https://doi.org/10.3174/ajnr.A8670
PubMed 
40210455

Published By 
American Journal of Neuroradiology
Print ISSN 
0195-6108
Online ISSN 
1936-959X
History 
  • Received September 20, 2024
  • Accepted after revision December 11, 2024
  • Published online May 2, 2025.

Copyright & Usage 
© 2025 by American Journal of Neuroradiology

Author Information

  1. Cesar A.P.F. Alvesa,b,
  2. Maria Camilla Rossi-Espagnetm,
  3. Francisco Perezd,
  4. Amirreza Manteghinejada,
  5. James T. Petersone,
  6. Rebecca Ganetzkye,l,
  7. Antonio Napolitanof,
  8. Francesco Grassif,
  9. Ibrahim George-Sankohe,
  10. Harun Yildizg,
  11. Colleen Murareskue,l,
  12. Marni J. Falke,l,
  13. Diego Martinellih,
  14. Daniela Longom,
  15. Adeline Vanderveri,
  16. Carlo Gandolfoc,m,
  17. Russell P. Sanetok,
  18. Amy Goldsteine,l and
  19. Arastoo Vossougha,j
  1. 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
  2. bDivision of Neuroradiology, Department of Radiology (C.A.P.F.A.), The Boston Children’s Hospital-Harvard Medical School, Boston, Massachusetts
  3. cFunctional and Interventional Neuroimaging Unit (C.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
  4. dDivision of Neuroradiology, Department of Radiology (F.P.), Texas Children’s Hospital, Houston, Texas
  5. 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
  6. fMedical Physics Unit (A.N., F.G.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
  7. gDepartment of Radiology (H.Y.), Bursa Dortcelik Children’s Hospital, Turkey
  8. hDivision of Metabolism (D.M.), Bambino Gesù Children’s Hospital, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy
  9. iDivision of Neurology (A. Vanderver), Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
  10. jDepartments of Pediatrics and Radiology (A. Vossough), Perelman School of Medicine University of Pennsylvania, Philadelphia, Pennsylvania
  11. kDivision of Pediatric Neurology (R.P.S.), Seattle Children’s Hospital, University of Washington, Seattle, Washington.
  12. lDepartments of Pediatrics (R.G., C.M., M.J.F., A.G.), Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania
  13. 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
  1. Please address correspondence to Dr. Cesar A.P.F. Alves MD, PhD, Division of Neuroradiology, Department of Radiology, Boston Children’s Hospital, Boston, 59 Addington Rd, Brookline - 02445, MA; e-mail: cesar.alves{at}childrens.harvard.edu; @cesaralvesneuro
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Funding

  • R.P.S: Grant NIH

    5U54NS078059-09
  • A. Vanderver: Grant

    U54NS115052

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  • Overview of neuroimaging in primary mitochondrial disorders
    Sedat Giray Kandemirli, Khalid Al-Dasuqi, Bulent Aslan, Amy Goldstein, Cesar Augusto P. F. Alves
    Pediatric Radiology 2025 55 4
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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
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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Neuroimaging Delineation and Progression of SLSMD
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
American Journal of Neuroradiology May 2025, DOI: 10.3174/ajnr.A8670
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  • Overview of neuroimaging in primary mitochondrial disorders
    Sedat Giray Kandemirli, Khalid Al-Dasuqi, Bulent Aslan, Amy Goldstein, Cesar Augusto P. F. Alves
    Pediatric Radiology 2025 55 4

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