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Neurodegenerative disorders
A number of neurodegenerative disorders are now associated with mutations in neurofilament (type IV) genes. Charcot-Marie-Tooth disease type 2E and Charcot-Marie-Tooth disease type 1 are types of progressive neurological degeneration, both associated with mutations in the neurofilament gene.
• Charcot-Marie-Tooth disease type 1 (CMT1; OMIM #118200)
Associated type IV intermediate filament proteins: NF-L
[Refs] • Charcot-Marie-Tooth disease type 1F (CMT1F; OMIM #607734)
Associated type IV intermediate filament proteins: NF-L
[Refs] • Charcot-Marie-Tooth disease type 2 (CMT2; OMIM #118210)
Associated type IV intermediate filament proteins: NF-L
Other associated intermediate filament proteins: lamin A
[Refs] • Charcot-Marie-Tooth disease type 2E (CMT2E; OMIM #607684)
Associated type IV intermediate filament proteins: NF-L
[Refs]
Amyotrophic lateral sclerosis 1 (ALS1; OMIM #105400) This disorder has been associated with the type III neuronal intermediate filament gene peripherin, PRPH, as well as with mutations in the NF-H neurofilament gene (see below). (Note: This PRPH gene peripherin is not to be confused with another gene named peripherin, the RDS gene expressed in the retina, nor with PRPH2 which is mutated in pigmentosa. Amyotrophic lateral sclerosis is a neurodegenerative disorder characterized by loss of motor neurons in the brain, brainstem and spinal cord, leading to fatal paralysis; it usually begins with asymmetric involvement of the muscles during adult life. ALS is also referred to as 'Lou Gehrig disease' after the famous American baseball player who was diagnosed with the disorder. Associated type IV intermediate filament proteins: NF-H, NF-L, NF-M Other associated intermediate filament proteins: peripherin [Refs]
Parkinson disease (PD; OMIM #168600) Parkinson disease has also been reported to be associated with a mutation in neurofilament gene. Associated type IV intermediate filament proteins: NF-L, NF-M [Refs]
Neuronal intermediate filament inclusion disease (NIFID) A number of neurodegenerative disorders are now associated with mutations in neurofilament (type IV) genes. Charcot-Marie-Tooth disease type 2E and Charcot-Marie-Tooth disease type 1 are types of progressive neurological degeneration, both associated with mutations in the neurofilament gene. Associated type IV intermediate filament proteins: NF-H [Refs]
Note: There are also some neurodegenerative diseases associated with non-neurofilament genes but instead with two type III intermediate filament proteins, i.e. Alexander disease associated with GFAP mutations, and amyotrophic lateral sclerosis associated with mutations in the type III peripheral nervous system gene peripherin (PRPH).
Last modified: August 27 2008 16:55:01. |
