Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration

Recently, Farmer et al. described the case of a 54-year-old Ashkenazi Jewish woman with a five-year course of progressive behavioral variant frontotemporal dementia (bvFTD) who was found at autopsy to have both adult polyglucosan body disease (APBD) (not, however, proven genetically) and frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) [1]. We present the clinical, pathologic, molecular, and genetic findings in a novel case of APBD with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration with FUS proteinopathy (FTLD-FUS), as well as the second reported case of APBD with concomitant FTLD-TDP. We also investigated 52 additional FTLD cases for the presence of concomitant APBD.