Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene. Issue 8 (21st July 2003)

• Record Type: Journal Article
• Authors: Bönsch, D; Schwindt, A; Navratil, P; Palm, D; Neumann, C; Klimpe, S; Schickel, J; Hazan, J; Weiller, C; Deufel, T; Liepert, J
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 74:Issue 8(2003)
• Page Start: 1109
• Page End: 1112
• Publication Date: 2003-07-21
• Subjects: hereditary spastic paraparesis -- spastic gene; HSP, hereditary spastic paraparesis -- CMCT, central motor conduction time -- PMCT, peripheral motor conduction time -- MEP, motor evoked potential -- TMS, transcranical magnetic stimulation; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.74.8.1109
• Languages: English
• ISSNs: 0022-3050

Abstract

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.