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. 2003 Aug;74(8):1109–1112. doi: 10.1136/jnnp.74.8.1109

Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene

D Bonsch 1, A Schwindt 1, P Navratil 1, D Palm 1, C Neumann 1, S Klimpe 1, J Schickel 1, J Hazan 1, C Weiller 1, T Deufel 1, J Liepert 1
PMCID: PMC1738610  PMID: 12876245

Abstract

Background: Hereditary spastic paraparesis (HSP) denotes a group of inherited neurological disorders with progressive lower limb spasticity as their clinical hallmark; a large proportion of autosomal dominant HSP belongs to HSP type 4, which has been linked to the SPG4 locus on chromosome 2. A variety of mutations have been identified within the SPG4 gene product, spastin.

Objective: Correlation of genotype and electrophysiological phenotype.

Material: Two large families with HSP linked to the SPG4 locus with a very similar disease with respect to age of onset, progression, and severity of symptoms.

Methods: Mutation analysis was performed by PCR from genomic DNA and cDNA, and direct sequencing. The motor system was evaluated using transcranial magnetic stimulation.

Results: Patients differ in several categories depending on the type of mutation present.

Conclusions: For the first time in hereditary spastic paraparesis, a phenotypic correlate of a given genetic change in the spastin gene has been shown.

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Selected References

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