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

Journal: Journal Of Neurology, Neurosurgery, And Psychiatry

Published: July 24, 2003

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.

Methods: 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.

Authors

D Bönsch, A Schwindt, P Navratil, D Palm, C Neumann, S Klimpe, J Schickel, J Hazan, C Weiller, T Deufel, J Liepert

Relevant Conditions

Refsum Disease, Hereditary Spastic Paraparesis, Spastic Paraplegia Type 7, Spastic Paraplegia Type 4, Spastic Paraparesis, Spasticity, Spastic Paraplegia Type 2

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

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