Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (Articolo in rivista)

Type
Label
  • Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (Articolo in rivista) (literal)
Anno
  • 2008-01-01T00:00:00+01:00 (literal)
Alternative label
  • Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, (2008)
    Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.
    in Journal of the neurological sciences
    (literal)
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  • Denora PS, Muglia M, Casali C, Truchetto J, Silvestri G, Messina D, Boukrhis A, Magariello A, Modoni A, Masciullo M, Malandrini A, Morelli M, de Leva MF, Villanova M, Giugni E, Citrigno L, Rizza T, Federico A, Pierallini A, Quattrone A, Filla A, Brice A, (literal)
Pagina inizio
  • 22 (literal)
Pagina fine
  • 25 (literal)
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  • 277 (literal)
Rivista
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  • 2008 Dec 12. [Epub ahead of print] (literal)
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  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
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  • Istituto di Neurologia Università Magna Graecia Catanzaro Istituto di scienze neurologiche Molecular Medicine & Neurology, IRCCS Bambino Gesù Hospital, Rome, INSERM, UMR_S679 Neurologie & Thérapeutique Expérimentale, France UPMC Univ Paris 06, UMR_S679, France Groupe Hospitalier Pitié-Salpêtrière, Département de Génétique et Cytogénétique, Paris, France Department of Neurology and ORL, University of Rome La Sapienza-Polo Pontino, Latina, Italy Department of Neuroscience, Catholic University of Rome, Italy IRCCS Don Carlo Gnocchi Foundation, Rome Department of Neurosciences, University of Siena, Italy Department of Neurological Sciences, Federico II University, Naples Villa Nigrisoli Hospital, Bologna, Italy Unit of Neuroradiology, IRCCS-San Raffaele Pisana, Rome, Italy (literal)
Titolo
  • Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: Further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population. (literal)
Abstract
  • Spastic paraplegia with thinning of the corpus callosum (ARHSP-TCC) is a relatively frequent form of complicated hereditary spastic paraplegia in which mental retardation and muscle stiffness at onset are followed by slowly progressive paraparesis and cognitive deterioration. Although genetically heterogeneous, ARHSP-TCC is frequently associated with mutations in the SPG11 gene, on chromosome 15q. However, it is becoming evident that ARHSP-TCC can also be the clinical presentation of mutations in ZFYVE26 (SPG15), as shown by the recent identification of eight families with a variable phenotype. Here, we present an additional Italian ARHSP-TCC patient harboring two new, probably loss-of-function mutations in ZFYVE26. This finding, together with the report of a mutation in another Italian family, provides confirmation that ZFYVE26 is the second gene responsible for ARHSP-TCC in the Italian population. (literal)
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