The Molecular Basis for Degenerative Dementia

Dementia Molecular Basis Causal Genes and (Chromosome) Susceptibility Genes Pathology AD Abeta <2% carry these mutations. APP (21), PS-1 (14), PS-2 (1) (most mutations are in PS-1) Apo EPSILON 4 (19)  Amyloid plaques, neurofibrillary tangles FTD Tau Tau exon and intron mutations (17) (about 10% of familial cases) Progranulin (17) (10% of familial cases) H1 tau haplotypes Tau inclusions, Pick bodies, neurofibrillary tangles   TDP-43 FUS     TDP-43 inclusions FUS inclusions DLB alpha-synuclein Very rare alpha-synuclein (4) (dominant) Unknown alpha-synuclein inclusions (Lewy bodies) CJD PrPSCproteins   Prion (20) (up to 15% of cases carry these dominant mutations) Codon 129 homozygosity for methionine or valine Tau inclusions, spongiform changes, gliosis