Article Text

Download PDFPDF
Study on a family with anderson--Fabry's disease and associated familial spastic paraplegia.
  1. A M Pierides,
  2. G Holti,
  3. A L Crombie,
  4. D F Roberts,
  5. S E Gardiner,
  6. A Colling,
  7. J Anderson

    Abstract

    A family in the north-east of England with Anderson--Fabry's disease is presented. Alpha-galactosidase activity in plasma and white cells was significantly reduced in three adult male members of the family. One of them had an abnormal chromosome karyotype pattern with an extra Y chromosome (47,XYY) and he was clinically less severely affected than his brothers. Coincidentally five other members of the family suffered from a form of familial spastic paraplegia.

    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.