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Table 5 Genetic biomarkers for neurodegenerative diseases

From: Relevance of biomarkers across different 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]
  1. 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