Pathology (neurofilamentopathies)
NEFL germline mutations in
- autosomal dominant Charcot-Marie-Tooth disease of the 2E axonal form (CMT2E) (MIM.607684)
- germline mutations in Charcot-Marie-Tooth disease of the 1F type (CMT1F) (MIM.607734)
NEFH variants in susceptibility to amyotrophic lateral sclerosis (ALS) (MIM.105400)
See also
References
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Al-Chalabi A, Miller CC. Neurofilaments and neurological disease. Bioessays. 2003 Apr;25(4):346-55. PMID: 12655642
Miller CC, Ackerley S, Brownlees J, Grierson AJ, Jacobsen NJ, Thornhill P. Axonal transport of neurofilaments in normal and disease states. Cell Mol Life Sci. 2002 Feb;59(2):323-30. PMID: 11924605
Perrone Capano C, Pernas-Alonso R, di Porzio U. Neurofilament homeostasis and motoneurone degeneration. Bioessays. 2001 Jan;23(1):24-33. PMID: 11135306
Mahadevan A, Santosh V, Gayatri N, Ratnavalli E, NandaGopal R, Vasanth A, Roy AK, Shankar SK. Infantile neuroaxonal dystrophy and giant axonal neuropathy—overlap diseases of neuronal cytoskeletal elements in childhood? Clin Neuropathol. 2000 Sep-Oct;19(5):221-9. PMID: 11048747
Julien JP. Neurofilament functions in health and disease. Curr Opin Neurobiol. 1999 Oct;9(5):554-60. PMID: 10508735
