Table 5 Genetic biomarkers for neurodegenerative diseases

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]