1.A Novel V136A Mutation in Cx32 and a R359W Mutation in EGR2 within a Charcot-Marie-Tooth Patient.
Byung Ok CHOI ; Ki Wha CHUNG ; Seung Min KIM ; Kee Duk PARK ; Mi Sun LEE ; Sang Hee SHIN ; Jiyong LEE ; Il Nam SUNWOO
Journal of the Korean Neurological Association 2004;22(1):80-83
Mutations of the CMT genes develop a variety of distinct phenotypes. Cx32 gene mutations cause the X-linked form of CMT disease, and mutations in EGR2 are associated with CMT type 1, DSS, and congenital hypomyelination neuropathy. Her parents, grandmother and sister did not show the V136A mutation in Cx32. We report the first CMT patient with EGR2 and Cx32 mutations.
Charcot-Marie-Tooth Disease
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Humans
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Parents
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Phenotype
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Siblings
2.X-linked Charcot-Marie-Tooth Disease Type 1 Harboring Unusual Electrophysiological Features.
Hyung Jun PARK ; Ha Young SHIN ; Hyo Eun LEE ; Dong Hyun LEE ; Kyung Min KIM ; Byung Ok CHOI ; Seung Min KIM
Journal of the Korean Neurological Association 2014;32(2):108-112
Charcot-Marie-Tooth X type 1 (CMTX1) is caused by mutations in the connexin 32 gene (Cx32) on the X chromosome. Electrophysiologically, CMTX1 is usually associated with intermediate slowing of conduction velocities and severe impairments in male patients. In addition, patients with CMTX1 rarely present conduction block and temporal dispersion, which are characteristic findings in acquired demyelinating neuropathy. We report herein, for the first time in Korea, two patients with Cx32 mutations who exhibited unusual electrophysiological findings.
Charcot-Marie-Tooth Disease*
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Humans
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Korea
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Male
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X Chromosome
3.Classification and molecular diagnostic procedure for Chacort-Marie-Tooth disease.
Chinese Journal of Medical Genetics 2012;29(5):553-557
Charcot-Marie-Tooth disease (CMT) is the most common form of hereditary neuropathy with significant clinical and genetic heterogeneity. So far 28 genes have been cloned. The main clinical manifestations of CMT include progressive distal muscle wasting and weakness, impaired distal sensation, and diminishing or loss of tendon reflex. Patients may be classified into demyelinating type (CMT1) and axonal type (CMT2) according to electrophysiological and pathological characteristics. Establishment of a standard diagnostic procedure based on clinical, electrophysiological and pathological findings will enable accurate diagnosis in most CMT patients and provide guidance for gene consulting and prognosis.
Charcot-Marie-Tooth Disease
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classification
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diagnosis
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genetics
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Humans
4.Peroneal muscular atrophy in a case.
Feng-li YAO ; Mei CHEN ; Fen-ping LUO
Chinese Journal of Pediatrics 2005;43(11):842-842
5.A Family Harboring CMT1A Duplication and HNPP Deletion.
Jung Hwa LEE ; Hee Jin KANG ; Hyunseok SONG ; Su Jin HWANG ; Sun Young CHO ; Sang Beom KIM ; Joonki KIM ; Ki Wha CHUNG ; Byung Ok CHOI
Journal of Clinical Neurology 2007;3(2):101-104
Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with duplication of chromosome 17p11.2-p12, whereas hereditary neuropathy with liability to pressure palsies (HNPP), which is an autosomal dominant neuropathy showing characteristics of recurrent pressure palsies, is associated with 17p11.2-p12 deletion. An altered gene dosage of PMP22 is believed to the main cause underlying the CMT1A and HNPP phenotypes. Although CMT1A and HNPP are associated with the same locus, there has been no report of these two mutations within a single family. We report a rare family harboring CMT1A duplication and HNPP deletion.
Charcot-Marie-Tooth Disease
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Gene Dosage
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Humans
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Paralysis
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Phenotype
6.Coexistence of Amyotrophic Lateral Sclerosis in the Proband of an X-Linked Charcot-Marie-Tooth Disease Type 1 Pedigree in China.
Shu Yan FENG ; Shu Man FENG ; Liu Yi LI ; Zhang Yu ZOU
Journal of Clinical Neurology 2018;14(2):261-263
No abstract available.
Amyotrophic Lateral Sclerosis*
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Charcot-Marie-Tooth Disease*
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China*
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Pedigree*
8.Is Roussy-Levy Syndrome the same as Charcot-Marie-Tooth Disease?.
Jae Hong LEE ; Duk Lyul NA ; Seong Ho PARK ; Kwang Woo LEE
Journal of the Korean Neurological Association 1994;12(1):170-174
We report data on 2 members of a family affected by a dominantly inherited disorder closely resembling Roussy-Levy syndrome(RLS) Electrophysiological findings showed a marked decrease of motor and sensory conduction velocities and mild neurogenic damage. Light and electron microscopy of sural nerve biopsy showed a hypertrophic neuropathy with diffuse onion-bulb formations and marked decrease of large size fibers. Teased fiber preparations revealed reduced internodal lengths and segmental demyelination. The hypothesis that RLS is not a disease entity but a hypertrophic-type of Charcot-Marie Tooth disease with essential tremor(HMSN type 1) is strongly supported.
Biopsy
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Charcot-Marie-Tooth Disease*
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Demyelinating Diseases
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Humans
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Microscopy, Electron
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Sural Nerve
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Tooth Diseases
9.Comparison between Clinical Disabilities and Electrophysiological Values in Charcot-Marie-Tooth 1A Patients with PMP22 Duplication.
Young Hwa KIM ; Hwa Kyung CHUNG ; Kee Duk PARK ; Kyoung Gyu CHOI ; Seung Min KIM ; Il Nam SUNWOO ; Young Chul CHOI ; Jeong Geun LIM ; Kwang Woo LEE ; Kwang Kuk KIM ; Dong Kuk LEE ; In Soo JOO ; Ki Han KWON ; Seok Beom GWON ; Jae Hyeon PARK ; Dae Seong KIM ; Seung Hyun KIM ; Woo Kyung KIM ; Bum Chun SUH ; Sang Beom KIM ; Nam Hee KIM ; Eun Hee SOHN ; Ok Joon KIM ; Hyun Sook KIM ; Jung Hee CHO ; Sa Yoon KANG ; Chan Ik PARK ; Jiyoung OH ; Jong Hyu SHIN ; Ki Wha CHUNG ; Byung Ok CHOI
Journal of Clinical Neurology 2012;8(2):139-145
BACKGROUND AND PURPOSE: Charcot-Marie-Tooth disease (CMT) type 1A (CMT1A) is the demyelinating form of CMT that is significantly associated with PMP22 duplication. Some studies have found that the disease-related disabilities of these patients are correlated with their compound muscle action potentials (CMAPs), while others have suggested that they are related to the nerve conduction velocities. In the present study, we investigated the correlations between the disease-related disabilities and the electrophysiological values in a large cohort of Korean CMT1A patients. METHODS: We analyzed 167 CMT1A patients of Korean origin with PMP22 duplication using clinical and electrophysiological assessments, including the CMT neuropathy score and the functional disability scale. RESULTS: Clinical motor disabilities were significantly correlated with the CMAPs but not the motor nerve conduction velocities (MNCVs). Moreover, the observed sensory impairments matched the corresponding reductions in the sensory nerve action potentials (SNAPs) but not with slowing of the sensory nerve conduction velocities (SNCVs). In addition, CMAPs were strongly correlated with the disease duration but not with the age at onset. The terminal latency index did not differ between CMT1A patients and healthy controls. CONCLUSIONS: In CMT1A patients, disease-related disabilities such as muscle wasting and sensory impairment were strongly correlated with CMAPs and SNAPs but not with the MNCVs or SNCVs. Therefore, we suggest that the clinical disabilities of CMT patients are determined by the extent of axonal dysfunction.
Action Potentials
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Axons
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Charcot-Marie-Tooth Disease
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Cohort Studies
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Humans
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Muscles
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Neural Conduction
10.Novel Compound Heterozygous Nonsense PRX Mutations in a Korean Dejerine-Sottas Neuropathy Family.
Ye Ji CHOI ; Young Se HYUN ; Soo Hyun NAM ; Heasoo KOO ; Young Bin HONG ; Ki Wha CHUNG ; Byung Ok CHOI
Journal of Clinical Neurology 2015;11(1):92-96
BACKGROUND: Mutations in the gene encoding periaxin (PRX) are known to cause autosomal recessive Dejerine-Sottas neuropathy (DSN) or Charcot-Marie-Tooth disease type 4F. However, there have been no reports describing Korean patients with these mutations. CASE REPORT: We examined a Korean DSN patient with an early-onset, slowly progressive, demyelinating neuropathy with prominent sensory involvement. Whole-exome sequencing and subsequent capillary sequencing revealed novel compound heterozygous nonsense mutations (p.R392X and p.R679X) in PRX. One mutation was transmitted from each of the patient's parents. No unaffected family member had both mutations, and the mutations were not found in healthy controls. CONCLUSIONS: We believe that these novel compound heterozygous nonsense mutations are the underlying cause of DSN. The clinical, electrophysiologic, and pathologic phenotypes in this family were similar to those described previously for patients with PRX mutations. We have identified the first PRX mutation in a Korean patient with DSN.
Capillaries
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Charcot-Marie-Tooth Disease
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Codon, Nonsense
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Hereditary Sensory and Motor Neuropathy*
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Humans
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Parents
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Peripheral Nerves
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Phenotype