Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia (Articolo in rivista)

Type
Label
  • Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia (Articolo in rivista) (literal)
Anno
  • 2010-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1016/j.jns.2009.09.025 (literal)
Alternative label
  • Magariello A; Muglia M; Patitucci A; Ungaro C; Mazzei R; Gabriele AL; Sprovieri T; Citrigno L; Conforti FL; Liguori M; Gambardella A; Bono F; Piccoli T; Patti F; Zappia M; Mancuso M; Iemolo F; Quattrone A. (2010)
    Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
    in Journal of the neurological sciences
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Magariello A; Muglia M; Patitucci A; Ungaro C; Mazzei R; Gabriele AL; Sprovieri T; Citrigno L; Conforti FL; Liguori M; Gambardella A; Bono F; Piccoli T; Patti F; Zappia M; Mancuso M; Iemolo F; Quattrone A. (literal)
Pagina inizio
  • 96 (literal)
Pagina fine
  • 100 (literal)
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  • 288 (literal)
Rivista
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  • 1-2 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Institute of Neurological Sciences, National Research Council, 87050 Mangone, Cosenza, Italy. Department of Neurosciences, Psychiatric and Anesthesiological Sciences, University of Messina, Messina, Italy. Institute of Neurology, University ‘Magna Graecia’, Catanzaro, Italy. Department of Clinical Neurosciences, University of Palermo, Palermo, Italy Department of Neurosciences, University of Catania, Catania, Italy Department of Neuroscience, Neurological Clinic, University of Pisa, Italy Department of Neurology, General Hospital R. Guzzardi Vittoria, Ragusa, Italy Institute of Biomedicine and Molecular Immunology, National Research Council, Palermo, Italy (literal)
Titolo
  • Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia (literal)
Abstract
  • Mutations in the SPG4 gene are the most common causes of hereditary spastic paraplegia (HSP) accounting for up to 40% of autosomal dominant (AD) forms and 12–18% of sporadic cases. The phenotype associated with HSP due to mutations in the SPG4 gene tends to be pure. There is increasing evidence, however, of patients with complicated forms of spastic paraplegia in which SPG4 mutations were identified. A cohort of 38 unrelated Italian patients with spastic paraplegia, of which 24 had a clear dominant inheritance and 14 were apparently sporadic, were screened for mutations in the SPG4 gene. We identified 11 different mutations, six of which were novel (p.Glu143GlyfsX8, p.Tyr415X, p.Asp548Asn, c.1656_1664delinsTGACCT, c.1688-3C>G and c.*2G>T) and two exon deletions previously reported. The overall rate of SPG4 gene mutation in our patients was 36.8% (14/38); in AD-HSP we observed a mutation frequency of 45.8% (11/24), in sporadic cases the frequency was 21.4% (3/14). Furthermore, we found a mutational rate of 22.2% (2/9) and 41.4% (12/29) in the complicated and pure forms, respectively. The results underlie the importance of genetic testing in all affected individuals. (literal)
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