OCA2 and posterior cortical atrophy: We observed three ClinVar-defined pathogenic or likely pathogenic PP-SVs (SLC3A1, OCA2 and PIGN) and 12 predicted PP-SVs, including seven known SVs (SLC7A2, DNAJC15, COL4A2, SLC2A5, WASF1, MLH1 and RB1), and five unknown SVs (BCL2L11, BARD1, FOXP1, CTNNA1 and AK8-DST) of which patients presenting with BCL2L11 and FOXP1 SVs show associated loss of gene expression, suggesting that inherited SVs may constitute an under-appreciated contribution to PCa pathogenicity.