PloS one, 2013-04, Vol.8 (4), p.e61074-e61074
2013
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- Autor(en) / Beteiligte
- Titel
- A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene
- Ist Teil von
- PloS one, 2013-04, Vol.8 (4), p.e61074-e61074
- Ort / Verlag
- United States: Public Library of Science
- Erscheinungsjahr
- 2013
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1932-6203eISSN: 1932-6203DOI: 10.1371/journal.pone.0061074Titel-ID: cdi_plos_journals_1335051479
- Format
- –
- Schlagworte
- Age, Aged, Alzheimer's disease, Alzheimers disease, Amyloid, Ataxia, Atrophy, Biology, biomarkers, Cerebral Cortex - pathology, Cerebral Cortex - physiopathology, cerebrospinal-fluid, Cortex, csf, Dementia, Dementia disorders, Development and progression, diagnosis, domain-4, Family medical history, Female, force-field, gamma-secretase complex, Genes, Genetic aspects, Health aspects, Hospitals, Humans, Magnetic Resonance Imaging, Medical research, Medicin och hälsovetenskap, Medicine, Memory, Models, Molecular, Mutation, Mutation - genetics, Neurochemistry, Neurodegenerative diseases, Neurofibrillary tangles, Neurologi, Neurology, Neurosciences, Nursing, onset alzheimers-disease, Patients, PEN-2 protein, Plaques, Presenilin 1, Presenilin 2, Presenilin-1 - chemistry, Presenilin-1 - genetics, Presenilin-1 - metabolism, Presenilin-2 - metabolism, protein, Protein Binding, Proteins, Psychiatric-mental health nursing, Secretase, Semantics, Senile plaques, Tomography, Emission-Computed, Single-Photon, transmembrane, Vision, Ocular, Visual cortex, Visual perception