Skip to main content
Advertisement

Main menu

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home

User menu

  • Alerts
  • Log in

Search

  • Advanced search
American Journal of Neuroradiology
American Journal of Neuroradiology

American Journal of Neuroradiology

ASHNR American Society of Functional Neuroradiology ASHNR American Society of Pediatric Neuroradiology ASSR
  • Alerts
  • Log in

Advanced Search

  • Home
  • Content
    • Current Issue
    • Accepted Manuscripts
    • Article Preview
    • Past Issue Archive
    • Video Articles
    • AJNR Case Collection
    • Case of the Week Archive
    • Case of the Month Archive
    • Classic Case Archive
  • Special Collections
    • AJNR Awards
    • Low-Field MRI
    • Alzheimer Disease
    • ASNR Foundation Special Collection
    • Photon-Counting CT
    • View All
  • Multimedia
    • AJNR Podcasts
    • AJNR SCANtastic
    • Trainee Corner
    • MRI Safety Corner
    • Imaging Protocols
  • For Authors
    • Submit a Manuscript
    • Submit a Video Article
    • Submit an eLetter to the Editor/Response
    • Manuscript Submission Guidelines
    • Statistical Tips
    • Fast Publishing of Accepted Manuscripts
    • Graphical Abstract Preparation
    • Imaging Protocol Submission
    • Author Policies
  • About Us
    • About AJNR
    • Editorial Board
    • Editorial Board Alumni
  • More
    • Become a Reviewer/Academy of Reviewers
    • Subscribers
    • Permissions
    • Alerts
    • Feedback
    • Advertisers
    • ASNR Home
  • Follow AJNR on Twitter
  • Visit AJNR on Facebook
  • Follow AJNR on Instagram
  • Join AJNR on LinkedIn
  • RSS Feeds

AJNR Awards, New Junior Editors, and more. Read the latest AJNR updates

OtherPediatric Neuroimaging

Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings

Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno and Paolo Tortori-Donati
American Journal of Neuroradiology June 2003, 24 (6) 1188-1191;
Andrea Rossi
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Roberta Biancheri
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Claudio Bruno
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Maja Di Rocco
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Angela Calvi
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Alice Pessagno
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
Paolo Tortori-Donati
  • Find this author on Google Scholar
  • Find this author on PubMed
  • Search for this author on this site
  • Article
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF
Loading

References

  1. ↵
    Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 1951;14:216–221
  2. ↵
    Rahman S, Blok RB, Dahl HH, et al. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 1996;39:343–351
    CrossRefPubMedWeb of Science
  3. ↵
    Tiranti V, Jaksch M, Hofmann S, et al. Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochrome c oxidase deficiency. Ann Neurol 1999;46:161–166
    CrossRefPubMedWeb of Science
  4. ↵
    Mashkevich G, Repetto B, Glerum DM, et al. SHT1, the yeast homolog of the mammalian SURF1 gene, encodes a mitochondrial protein required for respiration. J Biol Chem 1997;272:14356–14364
    Abstract/FREE Full Text
  5. ↵
    Bruno C, Biancheri R, Garavaglia B, et al. A novel mutation in the SURF1 gene in a child with Leigh syndrome, peripheral neuropathy, and cytochrome c oxidase deficiency. J Child Neurol 2002;17:233–236
    Abstract/FREE Full Text
  6. ↵
    Barkovich AJ, Good WV, Koch TK, Berg BO. Mitochondrial disorders: analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993;14:1119–1137
    Abstract/FREE Full Text
  7. ↵
    Medina L, Chi TL, DeVivo DC, Hilal SK. MR findings in patients with subacute necrotizing encephalomyelopathy (LS). AJNR Am J Neuroradiol 1990;11:379–384
    Abstract/FREE Full Text
  8. ↵
    Valanne L, Ketonen L, Majander A, et al. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 1998;19:369–377
    Abstract
  9. ↵
    Topçu M, Saatci I, Apak A, Soylemezoglu F, Akçoren Z. Leigh syndrome in a 3-year-old boy with unusual brain MR imaging and pathologic findings. AJNR Am J Neuroradiol 2000;21:224–227
    Abstract/FREE Full Text
  10. ↵
    Savoiardo M, Ciceri E, D’Incerti L, et al. Symmetric lesions of the subthalamic nuclei in mitochondrial encephalopathies: an almost distinctive mark of Leigh disease with COX deficiency [letter]. AJNR Am J Neuroradiol 1995;16:1746–1747
    PubMed
  11. ↵
    Savoiardo M, Zeviani M, Uziel G, Farina L. MRI in Leigh syndrome with SURF1 gene mutation [letter]. Ann Neurol 2002;51:138–149
    CrossRefPubMed
  12. ↵
    Rahman S, Brown RM, Chong WK, et al. A SURF1 gene mutation presenting as isolated leukodystrophy. Ann Neurol 2001;49:797–800
    CrossRefPubMedWeb of Science
PreviousNext
Back to top

In this issue

American Journal of Neuroradiology: 24 (6)
American Journal of Neuroradiology
Vol. 24, Issue 6
1 Jun 2003
  • Table of Contents
  • Index by author
Advertisement
Print
Download PDF
Email Article

Thank you for your interest in spreading the word on American Journal of Neuroradiology.

NOTE: We only request your email address so that the person you are recommending the page to knows that you wanted them to see it, and that it is not junk mail. We do not capture any email address.

Enter multiple addresses on separate lines or separate them with commas.
Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
(Your Name) has sent you a message from American Journal of Neuroradiology
(Your Name) thought you would like to see the American Journal of Neuroradiology web site.
CAPTCHA
This question is for testing whether or not you are a human visitor and to prevent automated spam submissions.
Cite this article
Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati
Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
American Journal of Neuroradiology Jun 2003, 24 (6) 1188-1191;

Citation Manager Formats

  • BibTeX
  • Bookends
  • EasyBib
  • EndNote (tagged)
  • EndNote 8 (xml)
  • Medlars
  • Mendeley
  • Papers
  • RefWorks Tagged
  • Ref Manager
  • RIS
  • Zotero
0 Responses
Respond to this article
Share
Bookmark this article
Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings
Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati
American Journal of Neuroradiology Jun 2003, 24 (6) 1188-1191;
del.icio.us logo Twitter logo Facebook logo Mendeley logo
  • Tweet Widget
  • Facebook Like
  • Google Plus One

Jump to section

  • Article
    • Abstract
    • Case Reports
    • Discussion
    • References
  • Figures & Data
  • Info & Metrics
  • Responses
  • References
  • PDF

Related Articles

  • No related articles found.
  • PubMed
  • Google Scholar

Cited By...

  • A guide to diagnosis and treatment of Leigh syndrome
  • OXPHOS mutations and neurodegeneration
  • A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency
  • Light and electron microscopy characteristics of the muscle of patients with SURF1 gene mutations associated with Leigh disease
  • Crossref
  • Google Scholar

This article has not yet been cited by articles in journals that are participating in Crossref Cited-by Linking.

More in this TOC Section

  • Clinical SVR of Fetal Brain MRI
  • FRACTURE MR in Congenital Vertebral Anomalies
  • Comparing MRI Perfusion in Pediatric Brain Tumors
Show more Pediatric Neuroimaging

Similar Articles

Advertisement

Indexed Content

  • Current Issue
  • Accepted Manuscripts
  • Article Preview
  • Past Issues
  • Editorials
  • Editor's Choice
  • Fellows' Journal Club
  • Letters to the Editor
  • Video Articles

Cases

  • Case Collection
  • Archive - Case of the Week
  • Archive - Case of the Month
  • Archive - Classic Case

More from AJNR

  • Trainee Corner
  • Imaging Protocols
  • MRI Safety Corner
  • Book Reviews

Multimedia

  • AJNR Podcasts
  • AJNR Scantastics

Resources

  • Turnaround Time
  • Submit a Manuscript
  • Submit a Video Article
  • Submit an eLetter to the Editor/Response
  • Manuscript Submission Guidelines
  • Statistical Tips
  • Fast Publishing of Accepted Manuscripts
  • Graphical Abstract Preparation
  • Imaging Protocol Submission
  • Evidence-Based Medicine Level Guide
  • Publishing Checklists
  • Author Policies
  • Become a Reviewer/Academy of Reviewers
  • News and Updates

About Us

  • About AJNR
  • Editorial Board
  • Editorial Board Alumni
  • Alerts
  • Permissions
  • Not an AJNR Subscriber? Join Now
  • Advertise with Us
  • Librarian Resources
  • Feedback
  • Terms and Conditions
  • AJNR Editorial Board Alumni

American Society of Neuroradiology

  • Not an ASNR Member? Join Now

© 2025 by the American Society of Neuroradiology All rights, including for text and data mining, AI training, and similar technologies, are reserved.
Print ISSN: 0195-6108 Online ISSN: 1936-959X

Powered by HighWire