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Table 3 List of neurodegenerative diseases caused by NF dysmetabolism

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

Mechanism Disease Inheritance Mutated gene Protein function References
Deleterious mutations in NF genes Charcot-Marie-Tooth 2E (CMT2E) Dominant NEFL   [91]
Charcot-Marie-Tooth 1F (CMT1F) Recessive NEFL   [92]
Charcot-Marie-Tooth 2CC (CMT2CC) Dominant NEFH   [93]
Deleterious mutations in genes involved in NF degradation Giant axonal neuropathy (GAN) Recessive GAN NF-specific adaptor for the Cullin3-E3 ubiquitin ligase complex [94]
Giant axonal neuropathy 2 (GAN2) Dominant DCAF8 NF-specific adaptor for the Cullin4-E3 ubiquitin ligase complex [95]
Charcot-Marie-Tooth 2F (CMT2F) Dominant HSPB1 Chaperone protein assisting nascent NFs in acquiring the correct conformation [96]
Charcot-Marie-Tooth 2 L (CMT2L) Dominant HSPB8 Chaperone protein assisting nascent NFs in acquiring the correct conformation [97]
Charcot-Marie-Tooth 2R (CMT2R) Recessive TRIM2 E3 ligase specific for NF-L [98]
Myofibrillar myopathy 6 (MFM6) Dominant BAG3 Co-chaperone for HSP70 protein family [99]