http://www.cnr.it/ontology/cnr/individuo/prodotto/ID49989

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (Articolo in rivista)

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Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (Articolo in rivista) (literal)

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Magariello A; Muglia M; Patitucci A; Mazzei R; Conforti FL; Gabriele AL; Sprovieri T; Ungaro C; Gambardella A; Mancuso M; Siciliano G; Branca D; Aguglia U; de Angelis MV; Longo K; Quattrone A. (2006)
Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia
in Neuromuscular disorders; Pergamon Press, Oxford (Regno Unito)
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Magariello A; Muglia M; Patitucci A; Mazzei R; Conforti FL; Gabriele AL; Sprovieri T; Ungaro C; Gambardella A; Mancuso M; Siciliano G; Branca D; Aguglia U; de Angelis MV; Longo K; Quattrone A. (literal)

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Angela Magariello, Maria Muglia, Alessandra Patitucci, Rosalucia Mazzei, Francesca Luisa Conforti , Anna Lia Gabriele, Teresa Sprovieri, Carmine Ungaro from Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy; Antonio Gambardella from Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy; Michelangelo Mancuso, Gabriele Siciliano from Department of Neuroscience, Neurological Clinic, University of Pisa, Pisa, Italy; Damiano Branca, Umberto Aguglia from Unit of Neurology, Reggio Calabria, Italy; Maria Vittoria de Angelis from Department of Oncology and Neuroscience, Institute of Aging (Ce.S.Ie), Foundation University G. d'Annunzio, Chieti-Pescara, Italy; Katia Longo from Department of Neurological Sciences, University Federico II, Naples, Italy; Aldo Quattrone from Institute of Neurological Sciences, National Research Council, Mangone, Cosenza, Italy and Institute of Neurology, University 'Magna Graecia', Catanzaro, Italy. (literal)

Titolo

Novel spastin (SPG4) mutations in Italian patients with hereditary spastic paraplegia (literal)

Abstract

Spastic paraplegia type 4 is caused by mutations in the gene that encodes spastin (SPG4), a member of the AAA protein family. A cohort of 34 unrelated Italian patients with pure spastic paraplegia, of which 18 displayed autosomal dominant inheritance and 16 were apparently sporadic, were screened for mutations in the SPG4 gene by denaturing high performance liquid chromatography. We identified a previously reported mutation in a sporadic patient with pure hereditary spastic paraplegia. We also identified eight unrelated patients with pure autosomal dominant hereditary spastic paraplegia carrying five novel mutations in the SPG4 gene (one missense mutation, c.1304 C>T; one nonsense mutation, c.807C>A; two frameshift mutations, c.1281dupT, c.1514_1515insATA; and one splicing mutation, c.1322-2A>C). The frequency for SPG4 mutations detected in autosomal dominant hereditary spastic paraplegia was 44.4%. This study contributes to expand the spectrum of SPG4 mutations in Italian population. (literal)

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