Complex phenotype in an Italian family with a novel mutation in SPG3A (Articolo in rivista)

Type
Label
  • Complex phenotype in an Italian family with a novel mutation in SPG3A (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1007/s00415-009-5311-3 (literal)
Alternative label
  • de Leva, MF; Filla, A; Criscuolo, C; Tessa, A; Pappata, 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
    in Journal of neurology (Print); DR DIETRICH STEINKOPFF VERLAG, HEIDELBERG (Germania)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • de Leva, MF; Filla, A; Criscuolo, C; Tessa, A; Pappata, S; Quarantelli, M; Bilo, L; Peluso, S; Antenora, A; Longo, D; Santorelli, FM; De Michele, G (literal)
Pagina inizio
  • 328 (literal)
Pagina fine
  • 331 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 257 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Department of Neurological Sciences, Federico II University, Via S. Pansini 5, 80131 Naples, Italy National Research Council/Department of Biomorphological and Functional Sciences, Biostructure and Bioimaging Institute, Federico II University, Naples, Italy Molecular Medicine, IRCCS Bambino Gesù Hospital, Rome, Italy Department of IFM Chemistry and Molecular Imaging, University of Turin, Turin, Italy (literal)
Titolo
  • Complex phenotype in an Italian family with a novel mutation in SPG3A (literal)
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. (literal)
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