Comparison between clinical disabilities and electrophysiological values in Charcot-Marie-Tooth 1A patients with PMP22 duplication

Journal of Clinical Neurology (Korea)

Volumn 8, Issue 2, 2012, Pages 139-145

  Kim, Young Hwa ^a   Chung, Hwa Kyung ^a   Park, Kee Duk ^a   Choi, Kyoung Gyu ^a   Kim, Seung Min ^b   Sunwoo, Il Nam ^b   Choi, Young Chul ^b   Lim, Jeong Geun ^c   Lee, Kwang Woo ^d   Kim, Kwang Kuk ^e   Lee, Dong Kuk ^f   Joo, In Soo ^g   Kwon, Ki Han ^h   Gwon, Seok Beom ^h   Park, Jae Hyeon ⁱ   Kim, Dae Seong ^j   Kim, Seung Hyun ^k   Kim, Woo Kyung ^h   Suh, Bum Chun ^l   Kim, Sang Beom ^m   Kim, Nam Hee ⁿ   Sohn, Eun Hee ^o   Kim, Ok Joon ^p   Kim, Hyun Sook ^p   Cho, Jung Hee ^q   Kang, Sa Yoon ^r   Park, Chan Ik ^s   Oh, Jiyoung ^t   Shin, Jong Hyu ^u   Chung, Ki Wha ^u   Choi, Byung Ok ^a   more..

^a Ewha Womans University School of Medicine   (South Korea)

^b Yonsei University College of Medicine   (South Korea)

^c Keimyung University   (South Korea)

^d Seoul National University College of Medicine   (South Korea)

^e University of Ulsan College of Medicine   (South Korea)

^f Catholic University of Daegu   (South Korea)

^g Ajou University School of Medicine   (South Korea)

^h Hallym University College of Medicine   (South Korea)

ⁱ Inje University College of Medicine   (South Korea)

^j Pusan National University School of Medicine   (South Korea)

^k Hanyang University College of Medicine   (South Korea)

^l Sungkyunkwan University School of Medicine   (South Korea)

^m Kyung Hee University Hospital   (South Korea)

ⁿ Dongguk University College of Medicine   (South Korea)

^o Chungnam National University College of Medicine   (South Korea)

^p Cha University   (South Korea)

^q National Health Insurance Corporation   (South Korea)

^r Jeju National University School of Medicine   (South Korea)

^s Yonsei University Wonju College of Medicine   (South Korea)

^t Konkuk University School of Medicine   (South Korea)

^u Kongju National University   (South Korea)

more..

Author keywords

Charcot marie tooth disease; CMT1A; Compound muscle action potential; Duplication; Nerve conduction velocity; Sensory nerve action potential

Indexed keywords

EID: 84863819673     PISSN: 17386586     EISSN: 20055013     Source Type: Journal    
DOI: 10.3988/jcn.2012.8.2.139     Document Type: Article

References (29)

1. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, et al. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 1991;66:219-232.
2. Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, et al. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients. Hum Mutat 2004;24: 185-186.
3. Zhang F, Seeman P, Liu P, Weterman MA, Gonzaga-Jauregui C, Towne CF, et al. Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet 2010;86:892-903.
4. Roa BB, Garcia CA, Suter U, Kulpa DA, Wise CA, Mueller J, et al. Charcot-Marie-Tooth disease type 1A. Association with a spontaneous point mutation in the PMP22 gene. N Engl J Med 1993;329:96-101.
5. Shy ME, Chen L, Swan ER, Taube R, Krajewski KM, Herrmann D, et al. Neuropathy progression in Charcot-Marie-Tooth disease type 1A. Neurology 2008;70:378-383.
6. Krajewski KM, Lewis RA, Fuerst DR, Turansky C, Hinderer SR, Garbern J, et al. Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A. Brain 2000;123:1516-1527.
7. Low PA, McLeod JG. Hereditary demyelinating neuropathy in the trembler mouse. J Neurol Sci 1975;26:565-574.
8. Sancho S, Magyar JP, Aguzzi A, Suter U. Distal axonopathy in peripheral nerves of PMP22-mutant mice. Brain 1999;122:1563-1577.
9. Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, 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 2003;126:134-151.
10. Dyck PJ, Lambert EH. Lower motor and primary sensory neuron diseases with peroneal muscular atrophy. II. Neurologic, genetic, and electrophysiologic findings in various neuronal degenerations. Arch Neurol 1968;18:619-625.
11. Harding AE, Thomas PK. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 1980;103:259-280.
12. Bouché P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P. Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J Neurol Sci 1983;61:389-399.
13. Birouk N, Gouider R, Le Guern E, Gugenheim M, Tardieu S, Maisonobe T, et al. Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases. Brain 1997;120:813-823.
14. Hoogendijk JE, De Visser M, Bolhuis PA, Hart AA, Ongerboer de Visser BW. Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype. Muscle Nerve 1994;17:85-90.
15. Thomas PK, Marques W Jr, Davis MB, Sweeney MG, King RH, Bradley JL, et al. The phenotypic manifestations of chromosome 17p11.2 duplication. Brain 1997;120:465-478.
16. Lewis RA, Sumner AJ, Shy ME. Electrophysiological features of inherited demyelinating neuropathies: A reappraisal in the era of molecular diagnosis. Muscle Nerve 2000;23:1472-1487.
17. Shy ME, Blake J, Krajewski K, Fuerst DR, Laura M, Hahn AF, et al. Reliability and validity of the CMT neuropathy score as a measure of disability. Neurology 2005;64:1209-1214.
18. Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, et al. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations. Brain 2006;129:2103-2118.
19. Pareyson D, Scaioli V, Laurà M. Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease. Neuromolecular Med 2006;8: 3-22.
20. Videler AJ, van Dijk JP, Beelen A, de Visser M, Nollet F, van Schaik IN. Motor axon loss is associated with hand dysfunction in Charcot-Marie-Tooth disease 1a. Neurology 2008;71:1254-1260.
21. Verhamme C, van Schaik IN, Koelman JH, de Haan RJ, Vermeulen M, de Visser M. Clinical disease severity and axonal dysfunction in hereditary motor and sensory neuropathy Ia. J Neurol 2004;251:1491-1497.
22. de Waegh S, Brady ST. Altered slow axonal transport and regeneration in a myelin-deficient mutant mouse: the trembler as an in vivo model for Schwann cell-axon interactions. J Neurosci 1990;10:1855-1865.
23. de Waegh SM, Lee VM, Brady ST. Local modulation of neurofilament phosphorylation, axonal caliber, and slow axonal transport by myelinating Schwann cells. Cell 1992;68:451-463.
24. Sahenk Z, Chen L, Mendell JR. Effects of PMP22 duplication and deletions on the axonal cytoskeleton. Ann Neurol 1999;45:16-24.
25. Watson DF, Nachtman FN, Kuncl RW, Griffin JW. Altered neurofilament phosphorylation and beta tubulin isotypes in Charcot-Marie-Tooth disease type 1. Neurology 1994;44:2383-2387.
26. Killian JM, Tiwari PS, Jacobson S, Jackson RD, Lupski JR. Longitudinal studies of the duplication form of Charcot-Marie-Tooth polyneuropathy. Muscle Nerve 1996;19:74-78.
27. Pareyson D, Marchesi C, Salsano E. Hereditary predominantly motor neuropathies. Curr Opin Neurol 2009;22:451-459.
28. Pareyson D, Marchesi C. Diagnosis, natural history, and management of Charcot-Marie-Tooth disease. Lancet Neurol 2009;8:654-667.
29. Roy EP 3rd, Gutmann L, Riggs JE. Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1. Muscle Nerve 1989; 12:52-55.