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Table 1 List of neurodegenerative diseases characterized by NF aggregates

From: The role of neurofilament aggregation in neurodegeneration: lessons from rare inherited neurological disorders

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]