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Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene
  1. D Bönsch1,2,
  2. A Schwindt1,3,
  3. P Navratil1,3,
  4. D Palm3,
  5. C Neumann1,
  6. S Klimpe1,4,
  7. J Schickel1,3,
  8. J Hazan5,
  9. C Weiller6,
  10. T Deufel1,
  11. J Liepert6
  1. 1Institut für Klinische Chemie und Laboratoriumsdiagnostik, Universitätsklinikum Jena, Germany
  2. 2Klinik für Neurologie, Universitätsklinikum Jena
  3. 3Kinderklinik der Universität Münster, Germany
  4. 4Neurologische Klinik, Universität Mainz, Germany
  5. 5Genoscope, Evry, France
  6. 6Klinik für Neurologie, Universität Hamburg, Germany
  1. Correspondence to:
 Dr D Bönsch, Neurologische Universitätsklinik, Universitätsklinikum Jena, D-07740 Jena, Germany;


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.

  • 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

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  • Funding: this study was funded by Tom-Wahlig-Stiftung, Jena, (SK and JS) and IZKF Jena (TD, JL).

  • Competing interests: none declared.