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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)328-331
Number of pages4
JournalJournal of Neurology
Issue number3
Publication statusPublished - Mar 2010


  • Amyotrophic lateral sclerosis
  • Hereditary spastic paraplegias
  • SPG3A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology


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