title: Clinical picture of a patient with a novel PSEN1 mutation (L424V).
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, hyperreflexia, 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.
authors.affiliation: Division of Neurology, Complejo Hospitalario Universitario de Santiago, Santiago de Compostela, Spain. alfredoroblesbayon@gmail.com
authors.forename: A
authors.initials: A
authors.lastname: Robles
authors.forename: M J
authors.initials: MJ
authors.lastname: Sobrido
authors.forename: M
authors.initials: M
authors.lastname: García-Murias
authors.forename: J M
authors.initials: JM
authors.lastname: Prieto
authors.forename: M
authors.initials: M
authors.lastname: Lema
authors.forename: D
authors.initials: D
authors.lastname: Santos
authors.forename: M
authors.initials: M
authors.lastname: Paramo
mesh_terms: D000328:Adult; D017668:Age of Onset; D000647:Amnesia / Q000235:genetics; D000856:Anorexia Nervosa / Q000235:genetics; D001284:Atrophy / Q000235:genetics; D001921:Brain / Q000098:blood supply / Q000000981:diagnostic imaging / Q000473:pathology*; D003704:Dementia / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005260:Female; D005625:Frontal Lobe / Q000473:pathology; D006801:Humans; D009154:Mutation; D053764:Presenilin-1 / Q000235:genetics*; D019275:Radiopharmaceuticals; D019690:Technetium Tc 99m Exametazime; D013702:Temporal Lobe / Q000473:pathology; D015899:Tomography, Emission-Computed, Single-Photon; D014057:Tomography, X-Ray Computed
chemical_list: C508853:PSEN1 protein, human; D053764:Presenilin-1; D019275:Radiopharmaceuticals; D019690:Technetium Tc 99m Exametazime