Dementia, delusions and seizures: storage disease or genetic AD?
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.
Alberici
A
A
Alzheimer Unit, IRCCS-S. Giovanni di Dio-FBF, Brescia, Italy. antoalberici@yahoo.it
Bonato
C
C
Borroni
B
B
Cotelli
M
M
Mattioli
F
F
Binetti
G
G
Gennarelli
M
M
Luca
M D
MD
Simonati
A
A
Perani
D
D
Rossini
P
P
Padovani
A
A
D000328:Adult; D000544:Alzheimer Disease / Q000134:cerebrospinal fluid / Q000150:complications / Q000235:genetics*; D003702:Delusions / Q000134:cerebrospinal fluid / Q000209:etiology / Q000235:genetics*; D003704:Dementia / Q000134:cerebrospinal fluid / Q000150:complications / Q000235:genetics*; D005500:Follow-Up Studies; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D009154:Mutation; D053764:Presenilin-1 / Q000235:genetics*; D012640:Seizures / Q000134:cerebrospinal fluid / Q000209:etiology / Q000235:genetics*
D053764:Presenilin-1