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

Bönsch, D.; Schwindt, A.; Navratil, P.; Palm, D.; Neumann, C.; Klimpe, S.; Schickel, J.; Hazan, J.; Weiller, C.; Deufel, T.; Liepert, J.; Bönsch, D
August 2003
Journal of Neurology, Neurosurgery & Psychiatry;Aug2003, Vol. 74 Issue 8, p1109
Academic Journal
journal article
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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