Abstract
Young onset dementia raises concern about familial and non degenerative dementias. We describe a patient with early dementia. At the age of 26, a woman developed symptoms of anorexia nervosa, at 30 a memory and attention deficit, and at 34 abnormal behavior with impulsivity, aggression, and dysexecutive disorder. At 36 she showed aphasia, stereotyped behavior, hyper-reflexia, grasping reflex, urinary incontinence, myoclonus, and seizures. Blood and cerebrospinal fluid were normal. Brain computed tomography and single photon emission computed tomography showed diffuse cortico-subcortical atrophy and frontotemporoparietal hypoperfusion. A Leu424Val mutation was present in PSEN1 gene. PSEN1 mutations can produce Alzheimer's disease, frontotemporal dementia, and dementia with Lewy bodies phenotypes, or a combination of them. It has been proposed that the mutation type and location may influence the molecular pathogenesis and thus PSEN1 would represent a molecular connexion between these entities. This case shows a novel PSEN1 mutation with outstanding amnesic and frontal symptoms.