유전학적으로 진단된 Charcot-Marie-Tooth 1A 환자의 전기생리학적 특성
Electrophysiological Characteristics of Genetically Confirmed Charcot-Marie-Tooth 1A
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Abstract
Background: Charcot-Marie-Tooth (CMT) disease is pathologically divided into the following two types: demyelinating type and axonal type. This study aimed to analyze the results of the electrophysiological studies of CMT1A and to reevaluate the clinical significance of nerve conduction studies (NCS). Methods: The subjects of the study were 18 patients with genetically confirmed CMT1A during the period of 1995. 1.-2004. 8. The NCS data from 22 family members of the patients were also included. The nerve conduction velocities, conduction blocks and compound muscle action potentials were analyzed. Results: The subjects were composed of 19 males and 21 females. The mean NCV was 21.70 m/s in the median nerve, and the conduction block was observed in 13 patients (32.5%). The NCV was uniformly slow. The intrafamilial variation of NCVs between parents and their children were analyzed in 30 patients from 11 families. The mean velocity was 24.44±3.67 m/s in parents and 19.53±5.37m/s in their children. Conclusions: The CMT1A showed the slowness in NCV, one of the characteristics of demyelinating neuropathy, and this slowing had a uniform pattern. Nerve conduction block was also frequently observed, the pattern of which was diffuse without dispersion, and non segmental. Because the NCV of the children tended to be slower than that of the parents, CMT1A may not be a simple progressive disease. The onset and progression of CMT1A may be determined by other genetic and environmental factors.
참고문헌 (29)
- Dyck PJ, "Lower motor and primary sensory neuron diseases with peroneal muscular atrophy I. Neurologic, genetic and electrophysiologic findings in hereditary polyneuropathies", 18, pp.603~618 (1968)
- Harding AE, "From the syndrome of Charcot,Marie and Tooth to disorders of peripheral myelin proteins", 118, pp.809~818 (1995)
- Harding AE, "The clinical features of hereditary motor and sensory neuropathy types I and II", 103, pp.259~280 (1980)
- Keller MP, "Inherited neuropathy:from gene to disease", 9, pp.327~341 (1999)
- Bird TD, "Charcot-Marie-Tooth Hereditary Neuropathy Overview"
- Kim SM, "Molecular Genetic Analyses of Charcot-Marie-Tooth Disease Type 1A in Korean", 17, pp.848~852 (1999)
- Oh SJ, "Clinical Electromyography: nerve conduction studies", pp.37~53 (1993), Williams & Wilkins
- Sunwoo IN, "Effects of Age,Sex and Height on Nerve Conduction Studies", 10, pp.173~187 (1992)
- Lee KY, "The usefulness of standardization of the nerve conduction study in the diagnosis and follow up of the demyelinating polyneuropathy", 16, pp.510~518 (1998)
- Olney RK, "American Association of Electrodiagnostic Medicine. Consensus criteria for the diagnosis of multifocal motor neuropathy", 27, pp.117~121 (2003)
- Bromberg MB, "Comparison of electrodiagnostic criteria for primary demyelination in chronic polyneuropathy", 14, pp.968~976 (1991)
- Lupski JR, "DNA duplication associated with Charcot- Marie-Tooth disease type 1A", 66, pp.219~232 (1991)
- Nicolas G, "Proposed revised electrophysiological criteria for chronic inflammatory demyelinating polyradiculoneuropathy", 25, pp.26~30 (2002)
- Attarian S, "Terminal latency index and modified F ratio in distinction of chronic demyelinating neuropathy", 112, pp.457~463 (2001)
- Krajewski KM, "Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A", 123, pp.1516~1527 (2000)
- Birouk N, "Charcot-Marie-Tooth disease type 1A with 17p11.2 duplication. Clinical and electrophysiological phenotype study and factors influencing disease severity in 119 cases", 120, pp.813~823 (1997)
- Kovach MJ, "Anticipation in a unique family with Charcot-Marie-Tooth syndrome and deafness:delineation of the clinical features and review of the literature", 108, pp.295~303 (2002)
- Kaku DA, "Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17", 43, pp.1806~1808 (1993)
- Hoogendijk JE, "Conduction block in hereditary motor and sensory neuropathy type I", 15, pp.520~521 (1992)
- Ionasescu VV, "Charcot-Marie-Tooth neuropathies:from clinical description to molecular genetics", 18, pp.267~275 (1995)
- Roy EP 3rd, "Longitudinal conduction studies in hereditary motor and sensory neuropathy type 1", 12, pp.52~55 (1989)
- Hanemann CO, "Pathogenesis of Charcot-Marie-Tooth 1A neuropathy", 21, pp.282~286 (1998)
- Kaku DA, "Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1", 43, pp.2664~2667 (1993)
- Nicholson GA, "Penetrance of the hereditary motor and sensory neuropathy Ia mutation:assessment by nerve conduction studies", 41, pp.547~552 (1991)
- Chance PF, "Charcot-Marie-Tooth syndrome", 50, pp.1180~1184 (1993)
- Killian JM, "Longitudinal studies of the duplication form of Charcot-Marie- Tooth polyneuropathy", 19, pp.74~78 (1996)
- Dyck PJ, "Charcot-Marie-Tooth disease:nerve conduction and clinical studies of a large kinship", 13, pp.1~11 (1963)
- Roa BB, "Charcot-Marie-Tooth disease type 1A association with a spontaneous point mutation in the PMP-22 gene", 329, pp.96~101 (1993)
- Thomas PK, "The phenotypic manifestations of chromosome 17p11.2 duplication", 120, pp.465~478 (1997)