Charcot Marie Tooth disease 1C (CMT1C)
Evidence-based neurology checklist on charcot marie tooth disease 1c (cmt1c): Genetics This is caused by mutations in LITAF and SIMPLE genes on chromosome 16p They encode LPS-induced TNF-activating factor This is a zinc binding membrane protein The onset is usually in the second decade Clinical…
Genetics
- This is caused by mutations in LITAF and SIMPLE genes on chromosome 16p
- They encode LPS-induced TNF-activating factor
- This is a zinc binding membrane protein
- The onset is usually in the second decade
Clinical features
Motor nerve conduction studies (NCS)
Acronyms
References
- Jerath NU, Shy ME. Charcot-Marie-Tooth disease type 1C: clinical and electrophysiological findings for the c.334G>A (p.Gly112Ser) LITAF/SIMPLE mutation. Muscle Nerve 2017; doi: 10.1002/mus.25600 (Epub ahead of print).
- Guimarães-Costa R, Iancu Ferfoglia R, Leonard-Louis S, et al. Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients. Eur J Neurol 2017; 24:530-538.
- Street VA, Goldy JD, Golden AS, Tempel BL, Bird TD, Chance PF. Mapping of Charcot-Marie-Tooth disease type 1C to chromosome 16p identifies a novel locus for demyelinating neuropathies. Am J Hum Genet 2002; 70:244-250.
- Qin W, Wunderley L, Barrett AL, High S, Woodman PG. The Charcot Marie Tooth disease protein LITAF is a zinc-binding monotopic membrane protein. Biochem J 2016; 473:3965-3978.
- Potulska-Chromik A, Sinkiewicz-Darol E, Kostera-Pruszczyk A, et al. Charcot-Marie-Tooth type 1C disease coexisting with progressive multiple sclerosis: a study of an overlapping syndrome. Folia Neuropathol 2012; 50:369-374.
