Neurogenetics

, Volume 8, Issue 4, pp 301–305

SPG11: a consistent clinical phenotype in a family with homozygous Spatacsin truncating mutation

  • Roberto Del Bo
  • Alessio Di Fonzo
  • Serena Ghezzi
  • Federica Locatelli
  • Giovanni Stevanin
  • Antonella Costa
  • Stefania Corti
  • Nereo Bresolin
  • Giacomo Pietro Comi
Original Article

DOI: 10.1007/s10048-007-0095-z

Cite this article as:
Del Bo, R., Di Fonzo, A., Ghezzi, S. et al. Neurogenetics (2007) 8: 301. doi:10.1007/s10048-007-0095-z

Abstract

Hereditary spastic paraplegias (HSP) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Here, we describe clinical and genetic features in an Italian family affected by autosomal recessive HSP (ARHSP) with mental impairment and thin corpus callosum (TCC). In both affected subjects, genetic analysis revealed the presence of a homozygous small deletion (733_734delAT) leading to a frameshift (M245VfsX) within the coding region of SPG11 gene, encoding spatacsin. This finding is the first independent confirmation that spatacsin loss of function mutations cause ARHPS-TCC.

Keywords

Autosomal recessive hereditary spastic paraplegiaThin corpus callosumSpatacsinSPG11

Copyright information

© Springer-Verlag 2007

Authors and Affiliations

  • Roberto Del Bo
    • 1
  • Alessio Di Fonzo
    • 1
  • Serena Ghezzi
    • 1
  • Federica Locatelli
    • 2
  • Giovanni Stevanin
    • 3
  • Antonella Costa
    • 4
  • Stefania Corti
    • 1
    • 5
  • Nereo Bresolin
    • 1
    • 2
    • 5
  • Giacomo Pietro Comi
    • 1
    • 5
  1. 1.Dino Ferrari Centre, Department of Neurological Sciences, IRCCS Foundation, Ospedale Maggiore, Policlinico Mangiagalli and Regina ElenaUniversity of MilanMilanItaly
  2. 2.IRCCS Eugenio Medea, Bosisio PariniLeccoItaly
  3. 3.INSERM, U679, Federative Institute for Neuroscience ResearchPitié-Salpêtrière GroupParisFrance
  4. 4.Neuroradiologic UnitIRCCS Foundation Ospedale Maggiore Policlinico, Mangiagalli and Regina ElenaMilanItaly
  5. 5.Centre of Excellence on Neurodegenerative DiseasesUniversity of MilanMilanItaly