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. Author manuscript; available in PMC: 2023 Feb 8.
Published in final edited form as: Brain Res Bull. 2022 Oct 29;192:115–127. doi: 10.1016/j.brainresbull.2022.10.017

Table 1.

Mutations or pathologies of Nf & Tau proteins linked to neurological diseases.

Genes Mutations or pathologies of Nf or Tau Linked diseases References

NEFL Both Charcot-Marie-Tooth disease type 1 F (Jordanova et al., 2003)
Charcot-Marie-Tooth disease type 2E (Mersiyanova et al., 2000)
Charcot-Marie-Tooth disease, Dominant intermediate G (Berciano et al., 2016)
Congenital myopathy (Agrawal et al., 2014)
Hereditary spastic paraplegia (Mul et al., 2020)
NEFH Both Charcot-Marie-Tooth disease, Axonal, Type 2CC (Rebelo et al., 2016)
Amyotrophic lateral sclerosis (Al-Chalabi et al., 1999)
PRPH Both Amyotrophic lateral sclerosis (Leung et al., 2004)
Peripheral neuropathy (Bjornsdottir et al., 2019)
INA Pathology Neuronal intermediate filament inclusion disease (Cairns et al., 2004)
NEFM Both Parkinson disease (Lavedan et al., 2002)
MAPT Both Frontotemporal dementia with or without (Hutton et al., 1998)
parkinsonism Pick disease (Murrell et al., 1999)
Progressive supranuclear palsy 1 (Poorkaj et al., 2002)
Atypical progressive supranuclear palsy 1 (Pastor et al., 2001)
Parkinson disease (Martin et al., 2001)