Clemens Oliver Hanemann, Ulm University, Ulm, Germany
Published online: January 2006
DOI: 10.1038/npg.els.0006009
Hereditary demyelinating neuropathies are among the most common inherited neurological diseases. Many causative mutations have been identified, opening up the possibility of reclassifying the hereditary demyelinating neuropathies. Better understanding of the pathogenesis of these diseases has given an insight into the genotype–phenotype correlation.
Keywords: Charcot–Marie–Tooth; hereditary motor sensory neuropathies; genotype; phenotype; demyelinatimg neuropathies
| References | |
| Bennett CL and Chance PF (2001) Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies. Current Opinion in Neurology 14: 621–627. | |
| D'Urso D, Ehrhardt P and Muller HW (1999) Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin. Journal of Neuroscience 19: 3396–3403. | |
| book Dyck P, Chance P, Lebo R and Carney J (1992) "Hereditary motor and sensory neuropathies". In: Dyck PJ, Thomas PK, Griffin J, Low PA and Poduslo JF (eds.) Peripheral Neuropathy, pp. 229–316. Philadelphia, PA: Saunders | |
| Felice KJ, Gomez LM, Natowicz M, et al. (2000) Adult-onset MLD: a gene mutation with isolated polyneuropathy. Neurology 55: 1036–1039. | |
| Hanemann CO, D'Urso D, Gabreels-Festen AA and Muller HW (2000) Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot–Marie–Tooth type 1A. Brain 123(5): 1001–1006. | |
| Kiyosawa H, Lensch MW and Chance PF (1995) Analysis of the CMT1A-REP repeat: mapping crossover breakpoints in CMT1A and HNPP. Human Molecular Genetics 4: 2327–2334. | |
| Ressot C and Bruzzone R (2000) Connexin channels in Schwann cells and the development of the X-linked form of Charcot–Marie–Tooth disease. Brain Research. Brain Research Reviews 32: 192–202. | |
| Previtali SC, Quattrini A, Fasolini M, et al. (2000) Epitope-tagged P(0) glycoprotein causes Charcot–Marie–Tooth-like neuropathy in transgenic mice. Journal of Cell Biology 151(5): 1035–1046. | |
| Warner LE, Hilz MJ, Appel ST, et al. (1996) Clinical phenotypes of different MPZ (Po) mutations may include Charcot–Marie–Tooth type 1b, Dejerine–Sottas, and congenital hypomyelination. Neuron 17: 451–460. | |
| Xu W, Shy M, Kamholz J, et al. (2001) Mutations in the cytoplasmic domain of P0 reveal a role for PKC-mediated phosphorylation in adhesion and myelination. Journal of Cell Biology 155: 439–446. | |
| Further Reading | |
| Bennett CL and Chance PF (2001) Molecular pathogenesis of hereditary motor and sensory and autonomic neuropathies. Current Opinion in Neurology 14: 621–627. | |
| Boerkoel CF, Takashima H, Garcia CA, et al. (2002) Charcot–Marie–Tooth disease and related neuropathies: mutation distribution and genotype–phenotype correlation. Annals of Neurology 51: 190–201. | |
| Hanemann CO (2001) Hereditary demyelinating neuropathies: from gene to disease. Neurogenetics 3: 53–57. | |
| book Jessen KR and Richardson WD (eds.) (2001) Glial Cell Development: Basic Principles and Clinical Relevance, 2nd edn. Oxford, UK: Oxford University Press. | |
| Web Links | |
| ePath OMIM (Online Mendelian Inheritance in Man) Database http://www.ncbi.nlm.nih.gov/Omim/ | |
| ePath Neuromuscular Disease Center. Washington University School of Medicine, St Louis, MO http://www.neuro.wustl.edu/neuromuscular/ | |
| ePath IPNMDB: The Inherited Peripheral Neuropathies Mutation Database. http://molgen-www.uia.ac.be/CMTMutations/ | |
| ePath Gap junction protein, beta 1, 32kD (connexin 32, Charcot–Marie–Tooth neuropathy, X-linked) (GJB1); Locus ID: 2705. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=2705 | |
| ePath Myelin protein zero (Charcot–Marie–Tooth neuropathy 1B) (MPZ); Locus ID: 4359. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=4359 | |
| ePath Peripheral myelin protein 22 (PMP22); Locus ID: 5376. LocusLink: http://www.ncbi.nlm.nih.gov/LocusLink/LocRpt.cgi?l=5376 | |
| ePath Gap junction protein, beta 1, 32kD (connexin 32, Charcot–Marie–Tooth neuropathy, X-linked) (GJB1); MIM number: 304040. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?304040 | |
| ePath Myelin protein zero (Charcot–Marie–Tooth neuropathy 1B) (MPZ); MIM number: 159440. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?159440 | |
| ePath Peripheral myelin protein 22 (PMP22); MIM number: 601097. OMIM: http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?601097 | |
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