1.
Eur J Neurol
; 14(9): 1057-9, 2007 Sep.
Article
in English
| MEDLINE
| ID: mdl-17718701
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.
Subject(s)
Alzheimer Disease/genetics , Delusions/genetics , Dementia/genetics , Mutation , Presenilin-1/genetics , Seizures/genetics , Adult , Alzheimer Disease/cerebrospinal fluid , Alzheimer Disease/complications , Delusions/cerebrospinal fluid , Delusions/etiology , Dementia/cerebrospinal fluid , Dementia/complications , Follow-Up Studies , Genetic Counseling , Humans , Male , Seizures/cerebrospinal fluid , Seizures/etiology
2.
An. med. interna (Madr., 1983)
; 19(11): 607-608, nov. 2002.
Article
in Es
| IBECS
| ID: ibc-18014
ABSTRACT
No disponible
Subject(s)
Middle Aged , Aged , Male , Female , Humans , Tomography, X-Ray Computed , Thrombocytopenia , Anti-Arrhythmia Agents , Amiodarone , Hemorrhage , Hemangiosarcoma , Skin Neoplasms , Lung Diseases
3.
An Med Interna
; 19(11): 607-8, 2002 Nov.
Article
in Spanish
| MEDLINE
| ID: mdl-12522909