ArticlePloS one2013
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 32 citations in OpenAlex.
- Neurological manifestations of autosomal dominant familial Alzheimer's disease: a comparison of the published literature with the Dominantly Inherited Alzheimer Network observational study (DIAN-OBS).The Lancet. Neurology · 2016Pooled it
- A NovelJournal of Alzheimer's disease reports · 2023Article
- Diagnosis and Management of Posterior Cortical Atrophy.Current treatment options in neurology · 2023Review
- Genetic testing in dementia - utility and clinical strategies.Nature reviews. Neurology · 2021Review
- [Posterior cortical atrophy-a heterogeneous syndrome : A case series].Der Nervenarzt · 2019Article
- Diagnostic evaluation and monitoring of patients with posterior cortical atrophy.Neurodegenerative disease management · 2019Review
- Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia.Scientific reports · 2019Article
- Hypermethylation ofOxidative medicine and cellular longevity · 2018Article
- Visual Dysfunction in Posterior Cortical Atrophy.Frontiers in neurology · 2017Review
- Posterior cortical atrophy as a primary clinical phenotype of corticobasal syndrome with a progranulin gene rs5848 TT genotype.Orphanet journal of rare diseases · 2016Article
- Evaluating pathogenic dementia variants in posterior cortical atrophy.Neurobiology of aging · 2016Article
- Inconsistencies and controversies surrounding the amyloid hypothesis of Alzheimer's disease.Acta neuropathologica communications · 2014Review
- Posterior cortical atrophy: review of the recent literature.Current neurology and neuroscience reports · 2013Review
- Clinical, biological, and imaging features of monogenic Alzheimer's Disease.BioMed research international · 2013Review
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
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.
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