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
Novel mutation in SPG11 in a patient with hereditary spastic paraplegia: Clinical, electrophysiological and molecular findings
Abstract
Introduction Complicated hereditary spastic paraplegias (CHSP) embrace conditions in which different neurological symptoms are present other than the «classical» corticospinal involvement. In cases associated with corpus callosum atrophy, mutations in SPG11 and less frequently in SPG15, are common findings. Case report 39 year-old Italian patient with normal birth and development, that began around 23 years of age with gait problems defined as progressive instability, stiffness in her legs and falls. There was no sphincter involvement. These conditions slowly progressed up to the point to impede her walking. Genetic investigations detected two novel compound heterozygous mutations in SPG11. Conclusions We describe typical clinical findings in a case with complicated hereditary spastic paraplegia associated with corpus callosum atrophy due to two novel mutations in SGP11. Both variants are predicted to be pathogenic and segregate with disease in her family. Corpus callosum atrophy either as early or late finding should prompt SPG11 mutation analysis. © 2014 Sociedad Neurológica Argentina. Published by Elsevier España, S.L.U. All rights reserved.
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Department of Neuromuscular Diseases
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by