Table 2 Causal genes, mutation spectrum, and mode of inheritance
From: Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
NBD | Causal gene | Type of mutation* | Inheritance | Reference |
|---|---|---|---|---|
AD | Amyloid precursor protein (APP) | Missense, gene dosage | Autosomal dominant, recessive | [5] |
Presenilin 1 (PSEN1) | Missense, indels | Autosomal dominant | [3] | |
Presenilin 2 (PSEN2) | Missense, indels | Autosomal dominant de novo | [6] | |
Prion protein (PRNP) | Missense, indels | Dominant | [7] | |
PD | α-Synuclein (SNCA) | Missense, gene dosage | Autosomal dominant | [4] |
Parkin 2 (PARK2) | Missense, gene dosage | Autosomal recessive | [8] | |
Leucine-rich repeat kinase 2 (LRRK2) | Missense | Autosomal dominant | [9] | |
FTD | Granulin (GRN) | PTC | Autosomal dominant | [10] |
Microtubule-binding protein tau (MAPT) | Missense, gene dosage | Autosomal dominant | [11] | |
ALS | Fused in sarcoma (FUS) | Missense | Autosomal dominant | [12] |
Cu/Zn superoxide dismutase (SOD1) | Missense | Autosomal dominant | [13] | |
Transactive response DNA-binding protein (TARDBP) | Missense | Autosomal dominant | [14] | |
FTD and ALS | Chromosome 9 open reading frame 72 (C9orf72) | G4C2 repeat expansions | Autosomal dominant | [15] |
TANK-binding kinase 1 gene (TBK1) | PTC | Autosomal dominant | ||
Valosin-containing protein gene (VCP) | Missense | Autosomal dominant | [19] |