期刊
PLOS ONE
卷 8, 期 4, 页码 -出版社
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pone.0061074
关键词
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资金
- Ministry of Science and Higher Education (Poland) [N N401557840]
- START Scholarship from the Foundation for Polish Science
- Ministry of Science and Higher Education (Poland)
- Foundation Stiftelsen Gamla Tjanarinnor
- Swedish Brain Fund
- Alzheimer Foundation, Sweden
- Dementia Association, Sweden
- Stiftelsen for alderssjukdomar vid Karolinska Institutet
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 gamma-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 gamma-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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