Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany

Daniele Orsucci, Loredana Petrucci, Elena Caldarazzo Ienco, Lucia Chico, Paolo Simi, Antonella Fogli, Fulvia Baldinotti, Costanza Simoncini, Annalisa Logerfo, Cecilia Carlesi, Alessia Arnoldi, Maria Teresa Bassi, Gabriele Siciliano, Ubaldo Bonuccelli, Michelangelo Mancuso

Research output: Contribution to journalArticle

Abstract

Objective Hereditary spastic paraparesis or paraplegias (HSPs) are a group of neurogenetic conditions with prominent involvement of the pyramidal tracts. Aim of this study is the clinical and molecular characterization of a cohort of patients with HSP. Moreover, we aim to study the minimum prevalence of HSP in our area and to propose a schematic diagnostic approach to HSP patients based on the available data from the literature. Methods Retrospective/perspective study on the subjects with clinical signs and symptoms indicative of pure or complicated HSP, in whom other possible diagnosis were excluded by appropriate neuroradiological, neurophysiologic and laboratory studies, who have been evaluated by the Neurogenetic Service of our clinic in last two years (2011-2012). Results 45 patients were identified. The minimum prevalence of HSP in our area was of about 2.17-3.43/100,000. The SF-36 (quality of life) and SPRS (disease progression) scores were inversely related; the time-saving, four-stage scale of motor disability could predict the SPRS scores with a high statistical significance, and we encourage its use in HSP. Our study confirms SPG4 as the major cause of HSP. All SPG4 patients had a pure HSP phenotype, and the dominant inheritance was evident in the great majority of these subjects. SPG7 was the second genetic cause. Other genotypes were rarer (SPG10, SPG11, SPG17). Conclusion Exact molecular diagnosis will allow a more accurate patient counseling and, hopefully, will lead to specific, targeted, therapeutic options for these chronic, still incurable diseases.

Original languageEnglish
Pages (from-to)14-19
Number of pages6
JournalClinical Neurology and Neurosurgery
Volume120
DOIs
Publication statusPublished - 2014

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Keywords

  • 4SMD
  • Hereditary spastic paraparesis
  • Hereditary spastic paraplegias
  • HSP
  • SPG
  • Strumpell-Lorrain

ASJC Scopus subject areas

  • Clinical Neurology
  • Surgery
  • Medicine(all)

Cite this

Orsucci, D., Petrucci, L., Caldarazzo Ienco, E., Chico, L., Simi, P., Fogli, A., Baldinotti, F., Simoncini, C., Logerfo, A., Carlesi, C., Arnoldi, A., Bassi, M. T., Siciliano, G., Bonuccelli, U., & Mancuso, M. (2014). Hereditary spastic paraparesis in adults. A clinical and genetic perspective from Tuscany. Clinical Neurology and Neurosurgery, 120, 14-19. https://doi.org/10.1016/j.clineuro.2014.02.002