Article
Dementia, delusions and seizures: storage disease or genetic AD?
European journal of neurology - 1 Sept 2007
Alberici A, Bonato C, Borroni B, Cotelli M, Mattioli F, Binetti G, Gennarelli M, Luca M D, Simonati A, Perani D, Rossini P, Padovani A
Abstract excerpt
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...
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