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Journal of Biomedicine and Biotechnology
Volume 2009 (2009), Article ID 985415, 10 pages
Diagnosis of Charcot-Marie-Tooth Disease
1Molecular Diagnosis Center of Inherited Diseases, Institut de Investigació Biomèdica de Bellvitge (IDIBELL), Gran Via 199, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
2Unitat de Neuromuscular, Neurology Department, Hospital Universitari de Bellvitge-IDIBELL, Feixa Llarga s/n, 08907 L'Hospitalet de Llobregat, Barcelona, Spain
Received 24 March 2009; Revised 24 June 2009; Accepted 8 July 2009
Academic Editor: John McGregor
Copyright © 2009 Isabel Banchs et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- P. Dyck, P. Chance, R. Lebo, et al., “Hereditary motor and sensory neuropaties,” in Peripheral Neuropathy, P. Dick, Ed., pp. 1094–1136, W.B. Saunders, Philadelphia, Pa, USA, 3rd edition, 1993.
- T. Sevilla and J. J. Vilchez, “Diferentes fenotipos del síndrome de Charcot-Marie-Tooth causados por mutaciones del mismo gen: siguen siendo útiles los criterios de clasificación clásicos?” Neurologia, vol. 19, no. 5, pp. 264–271, 2004.
- K. Szigeti and J. R. Lupski, “Charcot-Marie-Tooth disease,” European Journal of Human Genetics, vol. 17, no. 6, pp. 703–710, 2009.
- J. Berciano and O. Combarros, “Hereditary neuropathies,” Current Opinion in Neurology, vol. 16, no. 5, pp. 613–622, 2003.
- A. E. H. Emery, “Population frequencies of inherited neuromuscular diseases—a world survey,” Neuromuscular Disorders, vol. 1, no. 1, pp. 19–29, 1991.
- S. Kurihara, Y. Adachi, K. Wada, E. Awaki, H. Harada, and K. Nakashima, “An epidemiological genetic study of Charcot-Marie-Tooth disease in Western Japan,” Neuroepidemiology, vol. 21, no. 5, pp. 246–250, 2002.
- N. Hattori, M. Yamamoto, T. Yoshihara, et al., “Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients,” Brain, vol. 126, no. 1, pp. 134–151, 2003.
- M. E. Shy, A. Jáni, K. Krajewski, et al., “Phenotypic clustering in MPZ mutations,” Brain, vol. 127, no. 2, pp. 371–384, 2004.
- M. Laurà, M. Milani, M. Morbin, et al., “Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain,” Journal of Neurology, Neurosurgery and Psychiatry, vol. 78, no. 11, pp. 1263–1266, 2007.
- J. Meuleman, A. Pou-Serradell, A. Löfgren, et al., “A novel -splice site mutation in peripheral myelin protein 22 causing hereditary neuropathy with liability to pressure palsies,” Neuromuscular Disorders, vol. 11, no. 4, pp. 400–403, 2001.
- M. E. Shy, M. T. Scavina, A. Clark, et al., “T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy,” Annals of Neurology, vol. 59, no. 2, pp. 358–364, 2006.
- J. Li, K. Krajewski, M. E. Shy, and R. A. Lewis, “Hereditary neuropathy with liability to pressure palsy: the electrophysiology fits the name,” Neurology, vol. 58, no. 12, pp. 1769–1773, 2002.
- S. Bort, E. Nelis, V. Timmerman, et al., “Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies,” Human Genetics, vol. 99, no. 6, pp. 746–754, 1997.
- J. D. England, G. S. Gronseth, G. Franklin, et al., “Practice Parameter: evaluation of distal symmetric polyneuropathy: role of laboratory and genetic testing (an evidence-based review). Report of the American Academy of Neurology, American Association of Neuromuscular and Electrodiagnostic Medicine, and American Academy of Physical Medicine and Rehabilitation,” Neurology, vol. 72, no. 2, pp. 185–192, 2009.
- J. D. England, G. S. Gronseth, G. Franklin, et al., “Evaluation of distal symmetric polyneuropathy: the role of laboratory and genetic testing (an evidence-based review),” Muscle and Nerve, vol. 39, no. 1, pp. 116–125, 2009.
- V. A. Street, G. Meekins, H. P. Lipe, et al., “Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes,” Neuromuscular Disorders, vol. 12, no. 7-8, pp. 643–650, 2002.
- S. Züchner, I. V. Mersiyanova, M. Muglia, et al., “Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A,” Nature Genetics, vol. 36, no. 5, pp. 449–451, 2004.
- E. Sołtysińska, D. Kabzińska, and A. Kochański, “Mutations in the mitofusin 2 gene are the most common cause of Charcot-Marie-Tooth type 2 disease,” Neurologia i Neurochirurgia Polska, vol. 41, no. 4, pp. 350–354, 2007.
- E. A. Amiott, P. Lott, J. Soto, et al., “Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations,” Experimental Neurology, vol. 211, no. 1, pp. 115–127, 2008.
- D. Loiseau, A. Chevrollier, C. Verny, et al., “Mitochondrial coupling defect in Charcot-Marie-Tooth type 2A disease,” Annals of Neurology, vol. 61, no. 4, pp. 315–323, 2007.
- N. Ishihara, Y. Eura, and K. Mihara, “Mitofusin 1 and 2 play distinct roles in mitochondrial fusion reactions via GTPase activity,” Journal of Cell Science, vol. 117, no. 26, pp. 6535–6546, 2004.
- S. Züchner and J. M. Vance, “Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease,” Neuromolecular Medicine, vol. 8, no. 1-2, pp. 63–74, 2006.
- K. Verhoeven, K. G. Claeys, S. Züchner, et al., “MFN2 mutation distribution and genotype/phenotype correlation in Charcot-Marie-Tooth type 2,” Brain, vol. 129, no. 8, pp. 2093–2102, 2006.
- S. Züchner, P. De Jonghe, A. Jordanova, et al., “Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2,” Annals of Neurology, vol. 59, no. 2, pp. 276–281, 2006.
- I. Banchs, C. Casasnovas, J. Montero, J. A. Martínez-Matos, and V. Volpini, “Two Spanish families with Charcot-Marie-Tooth type 2A: clinical, electrophysiological and molecular findings,” Neuromuscular Disorders, vol. 18, no. 12, pp. 974–978, 2008.
- J. E. Hoogendijk, G. W. Hensels, A. A. Gabreëls-Festen, et al., “De-novo mutation in hereditary motor and sensory neuropathy type I,” The Lancet, vol. 339, no. 8801, pp. 1081–1082, 1992.
- E. A. Janssen, S. Kemp, G. W. Hensels, et al., “Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1),” Human Genetics, vol. 99, no. 4, pp. 501–505, 1997.
- K. Silander, P. Meretoja, V. Juvonen, et al., “Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies,” Human Mutation, vol. 12, no. 1, pp. 59–68, 1998.
- E. Nelis, C. Van Broeckhoven, P. De Jonghe, et al., “Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study,” European Journal of Human Genetics, vol. 4, no. 1, pp. 25–33, 1996.
- G. A. Nicholson, “Mutation testing in Charcot-Marie-Tooth neuropathy,” Annals of the New York Academy of Sciences, vol. 883, pp. 383–388, 1999.
- B. O. Choi, M. S. Lee, S. H. Shin, et al., “Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients,” Human Mutation, vol. 24, no. 2, pp. 185–186, 2004.
- A. Cuesta, L. Pedrola, T. Sevilla, et al., “The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease,” Nature Genetics, vol. 30, no. 1, pp. 22–25, 2002.
- T. Sevilla, A. Cuesta, M. J. Chumillas, et al., “Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene,” Brain, vol. 126, no. 9, pp. 2023–2033, 2003.
- A. Bolino, M. Muglia, F. L. Conforti, et al., “Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2,” Nature Genetics, vol. 25, no. 1, pp. 17–19, 2000.
- A. Bolino, E. R. Levy, M. Muglia, et al., “Genetic refinement and physical mapping of the CMT4B gene on chromosome 11q22,” Genomics, vol. 63, no. 2, pp. 271–278, 2000.
- H. Houlden, R. H. King, A. Hashemi-Nejad, et al., “A novel TRK A (NTRK1) mutation associated with hereditary sensory and autonomic neuropathy type V,” Annals of Neurology, vol. 49, no. 4, pp. 521–525, 2001.
- C. Verny, N. Ravisé, A.-L. Leutenegger, et al., “Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family,” Neurology, vol. 63, no. 8, pp. 1527–1529, 2004.
- K. B. Othmane, E. Johnson, M. Menold, et al., “Identification of a new locus for autosomal recessive Charcot-Marie- Tooth disease with focally folded myelin on chromosome 11p15,” Genomics, vol. 62, no. 3, pp. 344–349, 1999.
- E. LeGuern, A. Guilbot, M. Kessali, et al., “Homozygosity mapping of an autosomal recessive form of demyelinating Charcot-Marie-Tooth disease to chromosome 5q23-q33,” Human Molecular Genetics, vol. 5, no. 10, pp. 1685–1688, 1996.
- J. Senderek, C. Bergmann, C. Stendel, et al., “Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy,” American Journal of Human Genetics, vol. 73, no. 5, pp. 1106–1119, 2003.
- O. Dubourg, H. Azzedine, C. Verny, et al., “Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease,” Neuromolecular Medicine, vol. 8, no. 1-2, pp. 75–85, 2006.
- T. Rogers, D. Chandler, D. Angelicheva, et al., “A novel locus for autosomal recessive peripheral neuropathy in the EGR2 region on 10q23,” American Journal of Human Genetics, vol. 67, no. 3, pp. 664–671, 2000.
- P. K. Thomas, L. Kalaydjieva, B. Youl, et al., “Hereditary motor and sensory neuropathy-russe: new autosomal recessive neuropathy in Balkan gypsies,” Annals of Neurology, vol. 50, no. 4, pp. 452–457, 2001.
- A. De Sandre-Giovannoli, V. Delague, T. Hamadouche, et al., “Homozygosity mapping of autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy (CMT4H) to a novel locus on chromosome 12p11.21-q13.11,” Journal of Medical Genetics, vol. 42, no. 3, pp. 260–265, 2005.
- J. Colomer-Oferil, “Aspectos clínicos y abordaje diagnóstico y terapéutico de las neuropatías hereditarias sensitivo-motoras,” Revista de Neurologia, vol. 35, no. 3, pp. 239–245, 2002.
- J. Berciano, O. Combarros, J. Calleja, et al., “The application of nerve conduction and clinical studies to genetic counseling in hereditary motor and sensory neuropathy type I,” Muscle and Nerve, vol. 12, no. 4, pp. 302–306, 1989.
- J. R. Lupski, R. M. de Oca-Luna, S. Slaugenhaupt, et al., “DNA duplication associated with Charcot-Marie-Tooth disease type 1A,” Cell, vol. 66, no. 2, pp. 219–232, 1991.
- C. Casasnovas, I. Banchs, J. Corral, J. A. Martínez-Matos, and V. Volpini, “Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population,” Clinical Genetics, vol. 70, no. 6, pp. 516–523, 2006.
- R. A. Taylor, E. M. Simon, H. G. Marks, and S. S. Scherer, “The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem,” Neurology, vol. 61, no. 11, pp. 1475–1478, 2003.
- J. Bergoffen, S. S. Scherer, S. Wang, et al., “Connexin mutations in X-linked Charcot-Marie-Tooth disease,” Science, vol. 262, no. 5142, pp. 2039–2042, 1993.