title: A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.
abstract: Posterior cortical atrophy is a dementia syndrome with symptoms of cortical visual dysfunction, associated with amyloid plaques and neurofibrillary tangles predominantly affecting visual association cortex. Most patients diagnosed with posterior cortical atrophy will finally develop a typical Alzheimer's disease. However, there are a variety of neuropathological processes, which could lead towards a clinical presentation of posterior cortical atrophy. Mutations in the presenilin 1 gene, affecting the function of γ-secretase, are the most common genetic cause of familial, early-onset Alzheimer's disease. Here we present a patient with a clinical diagnosis of posterior cortical atrophy who harbors a novel Presenilin 1 mutation (I211M). In silico analysis predicts that the mutation could influence the interaction between presenilin 1 and presenilin1 enhancer-2 protein, a protein partner within the γ-secretase complex. These findings along with published literature support the inclusion of posterior cortical atrophy on the Alzheimer's disease spectrum.
authors.affiliation: Department of Neurological and Psychiatric Nursing, Medical University of Gdansk, Gdansk, Poland.
authors.forename: Emilia J
authors.initials: EJ
authors.lastname: Sitek
authors.forename: Ewa
authors.initials: E
authors.lastname: Narożańska
authors.forename: Beata
authors.initials: B
authors.lastname: Pepłońska
authors.forename: Sławomir
authors.initials: S
authors.lastname: Filipek
authors.forename: Anna
authors.initials: A
authors.lastname: Barczak
authors.forename: Maria
authors.initials: M
authors.lastname: Styczyńska
authors.forename: Krzysztof
authors.initials: K
authors.lastname: Mlynarczyk
authors.forename: Bogna
authors.initials: B
authors.lastname: Brockhuis
authors.forename: Erik
authors.initials: E
authors.lastname: Portelius
authors.forename: Dorota
authors.initials: D
authors.lastname: Religa
authors.forename: Maria
authors.initials: M
authors.lastname: Barcikowska
authors.forename: Jarosław
authors.initials: J
authors.lastname: Sławek
authors.forename: Cezary
authors.initials: C
authors.lastname: Żekanowski
mesh_terms: D000368:Aged; D001284:Atrophy; D002540:Cerebral Cortex / Q000473:pathology* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008958:Models, Molecular; D009154:Mutation / Q000235:genetics*; D053764:Presenilin-1 / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D053766:Presenilin-2 / Q000378:metabolism; D011485:Protein Binding; D015899:Tomography, Emission-Computed, Single-Photon; D014785:Vision, Ocular
chemical_list: D053764:Presenilin-1; D053766:Presenilin-2