skip banner - Return to original view
site viewing options
 
Parents|Medical Information|Professionals|In your area|Campaigns

Friedreich's Ataxia

What are the causes?

The genetic abnormality (mutation) in the majority of patients (ninety-five per cent plus) is an abnormally long repetition of a DNA fragment (expansion) in the Friedreich ataxia genes in both chromosomes 9. This mutation can be readily detected using a variety of molecular methods. However a small percentage (less than five per cent) may just have one expansion in one copy of their gene and the other copy may have a much more subtle abnormality called a point mutation. These latter abnormalities are more difficult to detect and need to be specially requested from the laboratory.

View What are the symptoms? What are the symptoms?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated November 2005 by Dr P Giunti, Senior Clinical Fellow, University Department of Clinical Neurology, University College, London, UK.

 

Tell us what you think of this information...

Print whole article Print whole article

 

This Web Site © Copyright, Contact a Family 2008
Contact a Family, 209-211 City Road, London EC1V 1JN
Tel: (020) 7608 8700

Registered Charity No. 284912. Charity registered in Scotland No. SC039169
Company limited by guarantee, registered in England and Wales No. 1633333.
HM Revenue & Customs charity tax reference No. XN54769. VAT Reg. No. GB 749 3846 82