Support for spastin mutation screening

Bulgarian research is the first to show that the clinical course of HSP is related to the type of spastin mutation.

The most common genetic form of HSP accounting for about 40% of the autosomal-dominant HSP (ADHSP) cases
is the spastin gene, SPG 4.  Bulgarian scientists performed mutation screening of the SPG 4 gene on 36 unrelated patients from three different ethnic groups (Bulgarians, Greeks and Gypsies). 

This study is the first to present clinical data that supports the general hypothesis that the clinical course of the disease (measured by age at disease onset) is related to the type of mutation (missense, splice-site, etc. – determined during diagnostic testing).  The clinical and genealogical findings in Bulgarian SPG 4 patients suggest that a positive family history for inheritance as an autosomal-dominant trait is a strong indication for spastin mutation screening.

SOURCE: Clin Genet. 2006 Dec;70(6):490-5

Spastin gene mutations in Bulgarian patients with
hereditary spastic paraplegia.

Ivanova N, Lofgren A, Tournev I, Rousev R, Andreeva A,
Jordanova A, Georgieva V, Deconinck T, Timmerman V,
Kremensky I, De Jonghe P, Mitev V.

Department of Chemistry and Biochemistry, Medical
University, Sofia, Bulgaria.