Table 2.
Causal genes, mutation spectrum, and mode of inheritance
| 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 | [16–18] | |
| Valosin-containing protein gene (VCP) | Missense | Autosomal dominant | [19] |
*Abbrevations: indel, insertion/deletion; PTC, premature termination codon