A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.
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 Alzhei...
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oai:doaj.org-article:97b85122553d461a86a5788abdf222072021-11-18T07:49:36ZA patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.1932-620310.1371/journal.pone.0061074https://doaj.org/article/97b85122553d461a86a5788abdf222072013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/23593396/pdf/?tool=EBIhttps://doaj.org/toc/1932-6203Posterior 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.Emilia J SitekEwa NarożańskaBeata PepłońskaSławomir FilipekAnna BarczakMaria StyczyńskaKrzysztof MlynarczykBogna BrockhuisErik PorteliusDorota ReligaMaria BarcikowskaJarosław SławekCezary ŻekanowskiPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 4, p e61074 (2013) |
| institution |
DOAJ |
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DOAJ |
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EN |
| topic |
Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Emilia J Sitek Ewa Narożańska Beata Pepłońska Sławomir Filipek Anna Barczak Maria Styczyńska Krzysztof Mlynarczyk Bogna Brockhuis Erik Portelius Dorota Religa Maria Barcikowska Jarosław Sławek Cezary Żekanowski A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| description |
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. |
| format |
article |
| author |
Emilia J Sitek Ewa Narożańska Beata Pepłońska Sławomir Filipek Anna Barczak Maria Styczyńska Krzysztof Mlynarczyk Bogna Brockhuis Erik Portelius Dorota Religa Maria Barcikowska Jarosław Sławek Cezary Żekanowski |
| author_facet |
Emilia J Sitek Ewa Narożańska Beata Pepłońska Sławomir Filipek Anna Barczak Maria Styczyńska Krzysztof Mlynarczyk Bogna Brockhuis Erik Portelius Dorota Religa Maria Barcikowska Jarosław Sławek Cezary Żekanowski |
| author_sort |
Emilia J Sitek |
| title |
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| title_short |
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| title_full |
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| title_fullStr |
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| title_full_unstemmed |
A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| title_sort |
patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/97b85122553d461a86a5788abdf22207 |
| work_keys_str_mv |
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