UCL  IRIS
Institutional Research Information Service
UCL Logo
Please report any queries concerning the funding data grouped in the sections named "Externally Awarded" or "Internally Disbursed" (shown on the profile page) to your Research Finance Administrator. Your can find your Research Finance Administrator at https://www.ucl.ac.uk/finance/research/rs-contacts.php by entering your department
Please report any queries concerning the student data shown on the profile page to:

Email: portico-services@ucl.ac.uk

Help Desk: http://www.ucl.ac.uk/ras/portico/helpdesk
Publication Detail
Muscle magnetic resonance imaging in congenital myasthenic syndromes
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Finlayson S, Morrow JM, Rodriguez Cruz PM, Sinclair CDJ, Fischmann A, Thornton JS, Knight S, Norbury R, White M, Al-hajjar M, Carboni N, Jayawant S, Robb SA, Yousry TA, Beeson D, Palace J
  • Publication date:
    22/02/2016
  • Pagination:
    211, 219
  • Journal:
    Muscle and Nerve
  • Volume:
    54
  • Issue:
    2
  • Status:
    Accepted
  • Print ISSN:
    0148-639X
Abstract
© 2016 The Authors. Muscle & Nerve Published by Wiley Periodicals, Inc.Introduction: In this study we investigated muscle magnetic resonance imaging in congenital myasthenic syndromes (CMS). Methods: Twenty-six patients with 9 CMS subtypes and 10 controls were imaged. T1-weighted (T1w) and short-tau inversion recovery (STIR) 3-Tesla MRI images obtained at thigh and calf levels were scored for severity. Results: Overall mean the T1w score was increased in GFPT1 and DPAGT1 CMS. T1w scans of the AChR-deficiency, COLQ, and CHAT subjects were indistinguishable from controls. STIR images from CMS patients did not differ significantly from those of controls. Mean T1w score correlated with age in the CMS cohort. Conclusions: MRI appearances ranged from normal to marked abnormality. T1w images seem to be especially abnormal in some CMS caused by mutations of proteins involved in the glycosylation pathway. A non-selective pattern of fat infiltration or a normal-appearing scan in the setting of significant clinical weakness should suggest CMS as a potential diagnosis. Muscle MRI could play a role in differentiating CMS subtypes. Muscle Nerve 54: 211–219, 2016.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Department of Neuromuscular Diseases
Author
UCL Queen Square Institute of Neurology
Author
Brain Repair & Rehabilitation
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by