Current insights into familial spastic paraparesis: New advances in an old disease

Daniela Fortini, Federica Cricchi, Roberto Di Fabio, Maria Damiano, Giovanna Comanducci, Laura Benedetti, Manuela Valoppi, Gaetano S. Grieco, Ottavio D'Eugenio, Andrea Celato, Filippo M. Santorelli, Carlo Casali, Giuseppe A. Amabile, Francesco Pierelli

Research output: Contribution to journalArticle

Abstract

Hereditary spastic paraparesis (HSP) comprises a clinically and genetically heterogeneous group of disorders characterized by progressive spasticity and hyperreflexia of the lower limbs. The past few years have witnessed an exponential increase in knowledge of this disease and we can now list 19 loci mapped on the human genome and eight genes cloned. However, this wider knowledge of the molecular basis of HSP has had limited impact on clinical practice: the use of antispastic drugs and regular physiotherapy still remain crucial in the therapeutic management of patients. Nonetheless, the identification of new genes mutated in HSP furthers comprehension of the pathomechanisms involved and helps in genetic counseling, especially of asymptomatic individuals who request molecular analyses.

Original languageEnglish
Pages (from-to)43-49
Number of pages7
JournalFunctional Neurology
Volume18
Issue number1
Publication statusPublished - Jan 2003

Keywords

  • Autosomal dominant
  • Autosomal recessive and X-linked inheritance
  • Defective trafficking
  • Hereditary spastic paraparesis

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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  • Cite this

    Fortini, D., Cricchi, F., Di Fabio, R., Damiano, M., Comanducci, G., Benedetti, L., Valoppi, M., Grieco, G. S., D'Eugenio, O., Celato, A., Santorelli, F. M., Casali, C., Amabile, G. A., & Pierelli, F. (2003). Current insights into familial spastic paraparesis: New advances in an old disease. Functional Neurology, 18(1), 43-49.