A Patient with Posterior Cortical Atrophy Possesses a Novel Mutation in the Presenilin 1 Gene

作者：Sitek Emilia J; Narozanska Ewa; Peplonska Beata; Filipek Slawomir; Barczak Anna; Styczynska Maria; Mlynarczyk Krzysztof; Brockhuis Bogna; Portelius Erik; Religa Dorota; Barcikowska Maria; Slawek Jaroslaw; Zekanowski Cezary^*

来源：PLos One, 2013, 8(4): e61074.

DOI：10.1371/journal.pone.0061074

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%26apos;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%26apos;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%26apos;s disease spectrum.

• 出版日期2013-4-12