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

Abstract

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
Volume20
Issue number8
DOIs
Publication statusPublished - Aug 2005

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Fingerprint Dive into the research topics of 'Clinical and genetic study of a large SPG4 Italian family'. Together they form a unique fingerprint.

Cite this