A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

Sitek EJ, Narożańska E, Pepłońska B, Filipek S, Barczak A, Styczyńska M, Mlynarczyk K, Brockhuis B, Portelius E, Religa D, Barcikowska M, Sławek J, Zekanowski C.
Journal   PLoS One
Species  
Analytes Measured   Abeta 40 , Abeta 42
Matrix Tested   Cerebrospinal fluid (CSF)
Year   2013
Volume   8
Page Numbers   61074
Application   Alzheimers
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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