You are here

Article Text

Article menu
Download PDFPDF
Research Article
Mapping of a complicated familial spastic paraplegia to locus SPG4 on chromosome 2p.
  1. O Heinzlef,
  2. C Paternotte,
  3. F Mahieux,
  4. J F Prud'homme,
  5. J Dien,
  6. M Madigand,
  7. J Pouget,
  8. J Weissenbach,
  9. E Roullet,
  10. J Hazan
  1. Service de Neurologie, Hôpital Tenon, Paris, France.

    Abstract

    Autosomal dominant familial spastic paraplegia (AD-FSP) is a degenerative disorder of the central motor system characterised by progressive spasticity of the lower limbs. AD-FSP has been divided into pure and complicated forms. Pure AD-FSP is genetically heterogeneous; three loci have been mapped to chromosomes 14q (SPG3), 2p (SPG4), and 15q (SPG6), whereas no loci responsible for complicated forms have been identified to date. Here we report linkage to the SPG4 locus in a three generation family with AD-FSP complicated by dementia and epilepsy. Assuming that both forms of AD-FSP are caused by mutations involving the same FSP gene, analysis of recombination events in this family positions the SPG4 gene within a 0 cM interval flanked by loci D2S2255 and D2S2347.

    https://doi.org/10.1136/jmg.35.2.89

    Statistics from Altmetric.com

      Request Permissions

      If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.