Atypical dementia associated with a novel presenilin-2 mutation. (Articolo in rivista)

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Label
  • Atypical dementia associated with a novel presenilin-2 mutation. (Articolo in rivista) (literal)
Anno
  • 2003-01-01T00:00:00+01:00 (literal)
Alternative label
  • Binetti G. 1, Signorini S. 1, Squitti R. 2, Alberici A. 1, Benussi L. 1, Cassetta E. 2, Frisoni G.B. 3, Barbiero L. 1, Feudatari E. 1, Nicosia F. 1, Testa C. 3, Zanetti O. 1, Gennarelli M. 4, Perani D. 5, Anchisi 6, Ghidoni R. 1, Rossini P.M. 2 7 (2003)
    Atypical dementia associated with a novel presenilin-2 mutation.
    in Annals of neurology
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Binetti G. 1, Signorini S. 1, Squitti R. 2, Alberici A. 1, Benussi L. 1, Cassetta E. 2, Frisoni G.B. 3, Barbiero L. 1, Feudatari E. 1, Nicosia F. 1, Testa C. 3, Zanetti O. 1, Gennarelli M. 4, Perani D. 5, Anchisi 6, Ghidoni R. 1, Rossini P.M. 2 7 (literal)
Pagina inizio
  • 832 (literal)
Pagina fine
  • 836 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#altreInformazioni
  • Impact Factor: 8.603 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 54(6) (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#descrizioneSinteticaDelProdotto
  • Discovery of a novel presenilin-2 mutation and report of the biological correlates. (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. Neurobiology Lab and Memory Clinic, IRCCS-Fatebenefratelli, Brescia. 2. Neuroscience Department AFaR Fatebenefratelli Hospital, Roma. 3. Laboratory of Epidemiology and Neuroimaging, Brescia. 4. Genetics Unit, IRCCS-Fatebenefratelli, Brescia. 5. Vita-Salute San Raffaele University and IBFM-CNR, Milano. 6. Scientific Institute Hospital San Raffaele, Milano. 7. Neurology, University Campus Bio-Medico, Roma. (literal)
Titolo
  • Atypical dementia associated with a novel presenilin-2 mutation. (literal)
Abstract
  • We describe an Italian pedigree with hereditary dementia associated with a novel T122R mutation in the presenilin-2 gene (PSEN2). The clinical history, symptom presentation, and structural neuroimaging were consistent with an atypical form of dementia. Disease expression varied within family members. One in a pair of mutated monozygotic twins had evident signs of disease, whereas the other did not, even if her functional neuroimaging investigations, cerebrospinal fluid levels of Abeta1-42, and Tau protein were able to provide markers for future disease development. These observations suggest the importance of still unknown biological and perhaps environmental factors in the disease determination. (literal)
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