Clinical and genetic study of a large SPG4 Italian family

Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Antonio Torato, Orazio Schillaci, Alessandro Stefani, Roberto Floris, Peter H. St. George-Hyslop, Sandro Sorbi, Giorgio Bernardi

Research output: Contribution to journalArticlepeer-review


A novel SPG4 906delT frame-shift mutation in exon 6 was identified in a large Italian family with an autosomal dominant form of hereditary spastic paraplegia (ADHSP). Intrafamilial phenotypic variations observed in the pedigree included spasticity and additional clinical features, such as peripheral sensory-motor neuropathy, cognitive impairment, and urological dysfunction. Severe clinical features were found predominantly in the men who were affected, and there was no statistically significant correlation of disability and time since onset of symptoms, suggesting the existence of other genetic/nongenetic modifier(s), including gender.

Original languageEnglish
Pages (from-to)1055-1059
Number of pages5
JournalMovement Disorders
Issue number8
Publication statusPublished - Aug 2005


  • Frame-shift mutation
  • Gender differences
  • Hereditary spastic paraplegia
  • Intrafamilial phenotypic variations
  • SPG4

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)


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