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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 [16,17,18]
Valosin-containing protein gene (VCP) Missense Autosomal dominant [19]
  1. *Abbrevations: indel, insertion/deletion; PTC, premature termination codon