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 journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)328-331
Number of pages4
JournalJournal of Neurology
Volume257
Issue number3
DOIs
Publication statusPublished - Mar 2010

Fingerprint

Phenotype
Mutation
Hereditary Spastic Paraplegia
Amyotrophic Lateral Sclerosis
Fathers
Genes

Keywords

  • Amyotrophic lateral sclerosis
  • Hereditary spastic paraplegias
  • SPG3A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

De Leva, M. F., Filla, A., Criscuolo, C., Tessa, A., Pappatà, S., Quarantelli, M., ... De Michele, G. (2010). Complex phenotype in an Italian family with a novel mutation in SPG3A. Journal of Neurology, 257(3), 328-331. https://doi.org/10.1007/s00415-009-5311-3

Complex phenotype in an Italian family with a novel mutation in SPG3A. / De Leva, Maria Fulvia; Filla, Alessandro; Criscuolo, Chiara; Tessa, Alessandra; Pappatà, Sabina; Quarantelli, Mario; Bilo, Leonilda; Peluso, Silvio; Antenora, Antonella; Longo, Dario; Santorelli, Filippo M.; De Michele, Giuseppe.

In: Journal of Neurology, Vol. 257, No. 3, 03.2010, p. 328-331.

Research output: Contribution to journalArticle

De Leva, MF, Filla, A, Criscuolo, C, Tessa, A, Pappatà, S, Quarantelli, M, Bilo, L, Peluso, S, Antenora, A, Longo, D, Santorelli, FM & De Michele, G 2010, 'Complex phenotype in an Italian family with a novel mutation in SPG3A', Journal of Neurology, vol. 257, no. 3, pp. 328-331. https://doi.org/10.1007/s00415-009-5311-3
De Leva MF, Filla A, Criscuolo C, Tessa A, Pappatà S, Quarantelli M et al. Complex phenotype in an Italian family with a novel mutation in SPG3A. Journal of Neurology. 2010 Mar;257(3):328-331. https://doi.org/10.1007/s00415-009-5311-3
De Leva, Maria Fulvia ; Filla, Alessandro ; Criscuolo, Chiara ; Tessa, Alessandra ; Pappatà, Sabina ; Quarantelli, Mario ; Bilo, Leonilda ; Peluso, Silvio ; Antenora, Antonella ; Longo, Dario ; Santorelli, Filippo M. ; De Michele, Giuseppe. / Complex phenotype in an Italian family with a novel mutation in SPG3A. In: Journal of Neurology. 2010 ; Vol. 257, No. 3. pp. 328-331.
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