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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]