Dementia, delusions and seizures: storage disease or genetic AD?
Antonella Alberici, Department of Neurology, University of Brescia, P.zzale Spedali Civili 1, 25123 Brescia, Italy (tel.: +39 030 3995632; fax: +39 030 3995027; e-mail: [email protected]).
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.
