Table 3 Potential genetic risk factors for dementia with Lewy bodies (DLB) and Parkinson’s disease dementia (PDD)
From: Are dementia with Lewy bodies and Parkinson’s disease dementia the same disease?
Gene | DLB | PDD |
|---|---|---|
GBA (glucocerebrosidase) | Mutations are most prevalent risk factors for sporadic DLB [271, 272]; associated with increased levels of AD pathology [183, 273]. | Mutations associated with risk of PDD and agressive cognitive decline [274,275,276,277,278,279,280,281,282,283]. |
MAPT (microtubule-associated protein tau) H1 haplotype | Associated with increased risk of DLB [284]. | Strongly associated with dementia in PD [153, 275, 285,286,287,288,289]. |
APOE (apolipoprotein E) | APOE ε4 is overrepresented in DLB, and it is an increased risk for DLB [35, 290]. | Mixed evidence for dementia risk in PD [291,292,293,294,295,296,297]. |
SNCA (α-synuclein) | Rare multiplications and mutations are associated with dementia in monogenic PD [292, 300], but show phenotypic variations and clinical heterogeneity [301,302,303,304,305,306]. | |
COMT (catechol-O-methyltransferase) | No evidence for dementia risk [287, 288, 307,308,309], but polymorphisms may contribute to cognitive deficits in PD [310]. | |
UBQLN1 (ubiquilin-1) and FMR1 (fragile X mental retardation protein 1) | ||
LRRK2 (leucine-rich repeat serine/threonine-protein kinase 2) | Not essential for DLB [313]. | No association with PDD [314,315,316,317,318,319,320,321,322]. |
C9orf72 repeat expansion | Not related with DLB [313]. | |
RAB39B (Ras-related protein Rab-39B) mutations | Not related with DLB [323]. | |