Alzheimer's Disease Research Today is a free monthly online journal that collates and summarizes the latest research about Alzheimer's Disease, including details on diagnosis, memory loss, heredity, treatment, medication.

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

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

Alzheimer Unit, IRCCS-S. Giovanni di Dio-FBF, Brescia, Italy. antoalberici@yahoo.it

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.

Published 27 August 2007 in Eur J Neurol, 14(9): 1057-9.
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