Dementia, delusions and seizures: Storage disease or genetic AD?

A. Alberici, C. Bonato, B. Borroni, M. Cotelli, F. Mattioli, G. Binetti, M. Gennarelli, M. D. Luca, A. Simonati, D. Perani, P. Rossini, A. Padovani

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)1057-1059
Number of pages3
JournalEuropean Journal of Neurology
Volume14
Issue number9
DOIs
Publication statusPublished - Sep 2007

Keywords

  • De novo
  • Genetic AD
  • Presenilin
  • Storage disease

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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