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
A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia
  • Publication Type:
    Journal article
  • Publication Sub Type:
    Article
  • Authors:
    Wilkinson PA, Crosby AH, Turner C, Patel H, Wood NW, Schapira AH, Warner TT
  • Publication date:
    22/07/2003
  • Pagination:
    235, 238
  • Journal:
    Neurology
  • Volume:
    61
  • Issue:
    2
  • Print ISSN:
    0028-3878
  • Keywords:
    Autosomal Recessive, Biopsy, clinical, CM, DEFECT, DEFECTS, English, families, family, genetic, hereditary, IM, individuals, LA, Linkage, LOCUS, Lod Score, MARKER, Markers, muscle, NO EVIDENCE, oxidative, Oxidative Phosphorylation, Paraplegia, Phosphorylation
  • Notes:
    DA - 20030722 IS - 1526-632X LA - eng PT - Journal Article SB - AIM SB - IM
Abstract
The authors performed a clinical and genetic study of a large consanguineous English family with uncomplicated autosomal recessive hereditary spastic paraplegia (ARHSP). Linkage to the previously described SPG5A locus was established with maximum multipoint lod score of 4.84. The locus was refined to a 23.6 cM interval between markers D8S1833 and D8S285. No evidence of oxidative phosphorylation defects was found in muscle biopsies from two affected individuals
Publication data is maintained in RPS. Visit https://rps.ucl.ac.uk
 More search options
UCL Researchers
Author
Clinical and Movement Neurosciences
Author
Clinical and Movement Neurosciences
Author
Clinical and Movement Neurosciences
University College London - Gower Street - London - WC1E 6BT Tel:+44 (0)20 7679 2000

© UCL 1999–2011

Search by