Posterior Cortical Atrophy/Novel Mutation in the Presenilin 1 Gene

Only the residues discussed are depicted and colored: I211 and Q223 in orange other residues in cyan. Hydrogen bonds are visualized as dashed yellow cylinders. 

Mutations in the presenilin 1 gene, affecting the function of γ-secretase, PCA usually display the same cerebrospinal fluid (CSF) biomarker including elevated levels of total tau (t-tau) and phosphorylated tau (p-tau) and dereased levels of amyloid-β (Aβ) consisting of 42 amino acids (Aβ42).  Mutation in prion protein gene (PRNP), or PSEN1 gene (Q223R) were associated with PCA phenotype.

Marked cortical and subcortical atrophy within both occipital and parietal lobes bilaterally. The atrophy was greater in the former. The right parietal lobe was more atrophic than the left one, with no asymmetry in the occipital lobes.

Intronic primers were used to amplify and sequence exons 3–12 of PSEN1, exons 16 and 17 of APP, exons 1–12 of PSEN2, and PRNP 

PCA, harboring a novel ATT>ATG mutation at codon 211 (I211M, g.44652T>G) of PSEN1 was identified. I211M mutation could be causative,Q223R mutation was identified.

Typical CSF biomarkers presentation should not exclude the possibility of causative link between PCA and AD