Genetic screening tests sometimes unreliable

Posted - March 2007 in Research Highlights

Scientists discover that family members with HSP symptoms sometimes test falsely negative to the family SPG 4 mutation.

Dr. Christian Beetz and 15 other scientists have discovered that in families with a diagnosed SPG 4 mutation, family members with HSP symptoms sometimes tested negative to the family mutation.  This triggered research by this team involving 65 patients with autosomal-dominant HSP, all of whom had previously tested negative to SPG 4.

18% of cases were found to have slipped through the conventional test but were diagnosed using a new process as indeed having an SPG 4 mutation.

This paper was published only in Oct 2006 but its findings were known to ANZAC Research Institute in Sydney several months earlier.  Dr. Beetz collaborated with ANZAC RI and helped apply this knowledge in the development of the new genetic testing for HSP currently underway in Australia.  As a result, the new tests soon to be available will be more reliable.

SOURCE: Neurology. 2006 Dec 12;67(11):1912-3.

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

C. Beetz PhD, A. O.H. Nygren , J. Schickel PhD, M. Auer-Grumbach MD, K. Bürk MD, G. Heide MD, J. Kassubek MD, S. Klimpe MD, T. Klopstock MD, F. Kreuz MD, S. Otto MD, R. Schüle MD, L. Schöls MD, A.-D. Sperfeld MD, O. W. Witte MD, and T. Deufel MD*