Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. (Articolo in rivista)

Type
Label
  • Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. (Articolo in rivista) (literal)
Anno
  • 2001-01-01T00:00:00+01:00 (literal)
Alternative label
  • Gambardella A.1-2, Muglia M.1, Labate A.1, Magariello A.1, Gabriele AL.1, Mazzei R.1, Pirritano D.2, Conforti FL.1, Patitucci A.1, Valentino P.2, Zappia M.2, Quattrone A.1-2 (2001)
    Juvenile Huntington's disease presenting as progressive myoclonic epilepsy.
    in Neurology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Gambardella A.1-2, Muglia M.1, Labate A.1, Magariello A.1, Gabriele AL.1, Mazzei R.1, Pirritano D.2, Conforti FL.1, Patitucci A.1, Valentino P.2, Zappia M.2, Quattrone A.1-2 (literal)
Pagina inizio
  • 708 (literal)
Pagina fine
  • 711 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 57 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • We report in detail the clinical, EEG, and laboratory findings of a 9-year-old girl with a clinical picture of progressive myoclonic epilepsy (PME), in whom we performed the molecular study for HD and found a CAG repeat expansion of 115 repeats. (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1,Institute of Experimental Medicine and Biotechnology, National Research Council, Piano Lago di Mangone - Cosenza (ora ISN) 2,Institute of Neurology, School of Medicine Catanzaro (literal)
Titolo
  • Juvenile Huntington's disease presenting as progressive myoclonic epilepsy. (literal)
Abstract
  • A 9-year-old girl, who had no family history of neurologic diseases in the first-degree relatives, had a 3-year history of progressive myoclonus epilepsy (PME). A thorough laboratory investigation was normal. As two sisters of her paternal grandmother were said to have Huntington's disease (HD), the authors looked for HD and found a CAG repeat expansion of 115 repeats. This diagnosis should be considered in addition to other causes in patients with PME. Moreover, the current case further supports the notion that HD should be considered even when a family history is not obvious. (literal)
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