Disease | Aggregated proteins | Mutated genes | References |
---|---|---|---|
Alzheimer’s disease (AD) | Amyloid-β, tau, NFs | APP, PSEN1, PSEN2 | [10] |
Parkinson’s disease (PD) | α-synuclein, NFs | SNCA, LRRK2, PARK7, PINK1, PRKN | [11] |
Amyotrophic lateral sclerosis (ALS) | Superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP43), FUS, dipeptide repeat protein (DRP), NFs | SOD1 | [12] |
Frontotemporal dementia (FTD) | Tau, NFs | PSEN1, MAPT | [13] |
Fragile X tremor/ataxia syndrome (FXTAS) | Crystallin, heat shock protein 70 (HSP70), HSP27, ubiquitin, NFs | FMR1 | [14] |
Spinal muscular atrophy (SMA) | NFs | SMN1 | [15] |
Essential tremor (ET) | NFs | FUS, TENM4 | [16] |
Spinocerebellar ataxia type 1 (SCA1) | Ataxin-1, NFs | ATXN1 | [16] |
Multiple system atrophy-cerebellar (MSA-C) | α-synuclein, tau, NFs | COQ2 | [16] |
Spastic paraplegia 11 | NFs | SPG11 | [17] |
Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) | NFs | ZSWIM6 | [18] |
Neuronal intranuclear inclusion disease (NIID) | Ubiquitin, NFs | – | [19] |
Diabetic neuropathy | NFs | – | [20] |
Progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (PEHO syndrome) | NFs | ZNHIT3 | [21] |