Table 2.
List of 50 genes where causative or probably causative variants were reported to cause early-onset dementia.
| Disease categories | No. of genes | Candidate genes selection |
|---|---|---|
| Alzheimer’s disease | 19 | APP, PSEN1, PSEN2, S100A9, CR1, BIN1, TREM2, CLU, CTNNA3, DNMBP, SORL1, BACE1, PICALM, GAB2, LPR6, ADAM10, ABCA7, CD33, TOMM40. |
|
Amyotrophic Lateral Sclerosis (ALS) & Frontotemporal dementia (FTD) |
18 | TDP43, CHMP2B, SIGMAR1, VCP, FUS, GRN, MAPT, UBQLN2, ALS2, TAF15, FIG. 4, OPTN, DAO, HNRNPA1, SOD1, ANG, VAPB, SQSTM1. |
| Dementia with Lewy Bodies | 7 | PINK1, PARK7, PARK9, GBA, SNCA, PARK2, LRRK2. |
| Other neurodegenerative diseases | 6 | SPAST, CYP7B1, SPG11, CSF1R, NOTCH3, PRNP. |
Abbreviations: APP, amyloid precursor protein; PSEN1, presenilin 1; PSEN2, presenilin 2; S100A9, S100 calcium binding protein A9; CR1, complement receptor 1; BIN1, Bridging integrator 1; TREM2, triggering receptor expressed on myeloid cells 2; CLU, clusterin; CTNNA3, catenin alpha 3; DNMBP, dynamin-binding protein; SORL1, sortilin-related receptor; BACE1, Beta-secretase 1; PICALM, Phosphatidylinositolbinding clathrin assembly protein; GAB2, GRB2-associated binding protein 2; LPR6, Low-density lipoprotein receptor-related protein 6; ADAM10, A disintegrin and metalloprotease 10; ABCA7, ATP-binding cassette transporter A7; CD33, cluster of differentiation 33; TOMM40, translocase of outer mitochondrial membrane 40; TDP43, transactive response DNA binding protein 43 kDa; CHMP2B, charged multivesicular body protein 2B; SIGMAR1, sigma non-opioid intracellular receptor 1; VCP, valosin-containing protein; FUS, fused in sarcoma; GRN, progranulin; MAPT, microtubule associated protein tau; UBQLN2, ubiquilin 2; ALS2, amyotrophic lateral sclerosis 2; TAF15, TATA-box binding protein associated factor 15; FIG. 4, FIG. 4 phosphoinositide 5-phosphatase; OPTN, optineurin; DAO, D-amino acid oxidase; HNRNPA1, heterogeneous nuclear ribonucleoprotein A1; SOD1, Superoxide dismutase 1; ANG, Angiogenin precursor; VAPB, Vesicle-associated membrane protein-associated protein B; SQSTM1, Domain-specific mutations in sequestosome 1; PINK1, PTEN-induced kinase 1; PARK7, Parkinsonism associated deglycase 7; PARK9, Parkinson disease (autosomal recessive) 9; GBA, glucocerebrosidase; SNCA, Alpha-synuclein; PARK2, Parkinson disease associated gene 2; LRRK2, Leucine-rich repeat kinase 2; SPAST, spastin; CYP7B1, cytochrome P450 7B1; SPG11, spastic paraplegia 11; CSF1R, colony stimulating factor 1 receptor; NOTCH3, Neurogenic locus notch homolog protein 3; PRNP, prion protein.