Table 5.
Genetic biomarkers for neurodegenerative diseases
| Gene | Protein | Associated Syndrome(s) | Reference |
|---|---|---|---|
| APP | Amyloid precursor protein | EOAD (familial), CAA | Tanzi et al., 1987 [15] |
| PSEN1 | Presenilin 1 | EOAD (familial) | Sherrington et al., 1995 [16] |
| PSEN2 | Presenilin 2 | EOAD (familial) | Levy-Lahad et al., 1995 [17] |
| MAPT | MAPT | bvFTD, PSP | Hutton et al., 1998 [18]; Poorkaj et al., 1998 [19] |
| C9orf72 | C9orf72 | bvFTD, ALS | Renton et al., 2011 [20] |
| GRN | Progranulin | bvFTD, CBS | Gass et al., 2006 [21] |
| VCP | Valosin-containing protein | ALS | Johnson et al., 2010 [22] |
| TARDBP | TDP-43 | ALS | Shreedharan et al., 2008 [23] |
| SOD1 | Superoxide dismutase 1 | ALS | Rosen et al., 1993 [24] |
| FUS | Fused-in sarcoma | ALS | Kwiatkowski et al., 2009 [25]; Vance et al., 2009 [26] |
| HTT | Huntingtin | HD | HDCRG, 1993 [27] |
| SNCA | α-synuclein | PD, DLB, MSA | Kruger et al., 1998 [28] |
| GBA | β-glucocerebrosidase | PD, DLB, Gaucher | Sidransky and Lopez, 2012 [29] |
| PRNP | Prion protein | Prion | Liao et al., 1986 [30]; Kretzschmar et al., 1986 [31]; Hsiao et al., 1989 [32] |
| ApoE (ε4 allele) | Apolioporotein-E | AD (risk factor) | Corder et al., 1993 [33]; Saunders et al., 1993 [34] |
| TREM2 | TREM2 | AD (risk factor) | Guerreiro et al., 2013 [35]; Jonsson and Stafansson, 2013 [36] |
Abbreviations: EOAD, Early-onset Alzheimer’s disease; MAPT, Microtubule associated protein tau; CAA, Cerebral amyloid angiopathy; bvFTD, Behavioral-variant frontotemporal dementia; PSP, progressive supranuclear palsy; ALS, Amyotrophic Lateral Sclerosis; TDP-43, Transactive response DNA binding protein 43 kDa; FUS, Fused-in Sarcoma; CBS, corticobasal syndrome; HD, Huntington’s disease; PD, Parkinson’s disease; DLB, Dementia with Lewy bodies; MSA, multiple system atrophy; AD, Alzheimer’s disease; TREM2, Triggering receptor expressed on myeloid cells 2