Journal of Neurology

, Volume 257, Issue 3, pp 328–331 | Cite as

Complex phenotype in an Italian family with a novel mutation in SPG3A

  • Maria Fulvia de Leva
  • Alessandro Filla
  • Chiara Criscuolo
  • Alessandra Tessa
  • Sabina Pappatà
  • Mario Quarantelli
  • Leonilda Bilo
  • Silvio Peluso
  • Antonella Antenora
  • Dario Longo
  • Filippo M. Santorelli
  • Giuseppe De Michele
Original Communication

Abstract

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations.

Keywords

Hereditary spastic paraplegias SPG3A Amyotrophic lateral sclerosis 

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Copyright information

© Springer-Verlag 2009

Authors and Affiliations

  • Maria Fulvia de Leva
    • 1
  • Alessandro Filla
    • 1
  • Chiara Criscuolo
    • 1
  • Alessandra Tessa
    • 3
  • Sabina Pappatà
    • 2
  • Mario Quarantelli
    • 2
  • Leonilda Bilo
    • 1
  • Silvio Peluso
    • 1
  • Antonella Antenora
    • 1
  • Dario Longo
    • 4
  • Filippo M. Santorelli
    • 3
  • Giuseppe De Michele
    • 1
  1. 1.Department of Neurological SciencesFederico II UniversityNaplesItaly
  2. 2.National Research Council/Department of Biomorphological and Functional Sciences, Biostructure and Bioimaging InstituteFederico II UniversityNaplesItaly
  3. 3.Molecular MedicineIRCCS Bambino Gesù HospitalRomeItaly
  4. 4.Department of IFM Chemistry and Molecular ImagingUniversity of TurinTurinItaly

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