Dementia, delusions and seizures: storage disease or genetic AD? (Articolo in rivista)

Type
Label
  • Dementia, delusions and seizures: storage disease or genetic AD? (Articolo in rivista) (literal)
Anno
  • 2007-01-01T00:00:00+01:00 (literal)
Alternative label
  • Alberici A. 1,2, Bonato C. 3, Borroni B. 2, Cotelli M. 1, Mattioli F. 2, Binetti G. 4, Gennarelli M. 5, Luca M.D. 6, Simonati A. 7, Perani D. 8, Rossini P. 9, Padovani A. 2 (2007)
    Dementia, delusions and seizures: storage disease or genetic AD?
    in European journal of neurology (Print)
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Alberici A. 1,2, Bonato C. 3, Borroni B. 2, Cotelli M. 1, Mattioli F. 2, Binetti G. 4, Gennarelli M. 5, Luca M.D. 6, Simonati A. 7, Perani D. 8, Rossini P. 9, Padovani A. 2 (literal)
Pagina inizio
  • 1057 (literal)
Pagina fine
  • 1059 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 14 (literal)
Rivista
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1. Alzheimer Unit, IRCCS – S. Giovanni di Dio-FBF, Brescia 2. Neurological Clinic, University of Brescia, Spedali Civili di Brescia 3. Neurological Clinic, Casa di Cura Pederzoli, Peschiera (VR) 4. NeuroBioGen Lab, Neurophysiology Unit, Brescia 5. Genetics Unit, IRCCS – S. Giovanni di Dio-FBF, Brescia 6. Department of Pharmacological Sciences, University of Milan, Milano 7. Neurological Clinic, University of Verona, Verona 8. ‘Vita-Salute’ San Raffaele University and IBFM-CNR, Milano 9. AFaR-Dip. Neurosci. Osp. FBF, Isola Tiberina, Clinica Neurologica Università Campus Bio-Medico Roma (literal)
Titolo
  • Dementia, delusions and seizures: storage disease or genetic AD? (literal)
Abstract
  • We describe a case of a young patient suffering from a rapidly progressive cognitive decline, associated with delusions, myoclonus and seizures and with no family history for dementia. Clinical features, along with skin biopsy findings were overlapping storage disease; the genetic analysis, however, demonstrated a de novo presenilin 1 mutation. The present report suggests the usefulness of genetic determinations in early-onset cases of dementia, even without an autosomal dominant trait of inheritance; for these cases and their relatives an extensive genetic counselling should be recommended. (literal)
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