X-linked Charcot-Marie-Tooth (CMTX) disease is a clinically heterogeneous hereditary motor and sensory neuropathy. The X-linked inheritance showed an absence of male-to-male transmission and a more severe disease phenotype in affected males compared to that in affected female. A missense mutation, Cys168Arg, was found in connexin 32 gene (Cx32/GJB1) from a patient with CMTX neuropathy. The familial history of this patient also suggested that the disease is X-linked CMT. Thus, we report a CMTX family having the novel Cys168Arg mutation in the Cx32 gene.
Female ; Genes, X-Linked ; Hereditary Sensory and Motor Neuropathy ; Humans ; Male ; Mutation, Missense* ; Phenotype

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 ; Charcot-Marie-Tooth Disease ; Codon, Nonsense ; Hereditary Sensory and Motor Neuropathy* ; Humans ; Parents ; Peripheral Nerves ; Phenotype

Adult ; Aged ; Female ; Hereditary Sensory and Motor Neuropathy ; diagnosis ; genetics ; Humans ; Male ; Middle Aged ; Pedigree

Hereditary motor and sensory neuropathy is an unusual disease which is characterized by deformity of phe foot, acral sensory loss, decreare of deep tendon reflexes, enlargement of peripheral nerve and diminished motor conduction velocity. We report a case of hereditary motor and sensory neuropathy type I.
Congenital Abnormalities ; Foot ; Hereditary Sensory and Motor Neuropathy ; Peripheral Nerves ; Reflex, Stretch

A case of hypertrophic interstitial neuropathy in a 32 years old man developed in the median nerve is reported. This is a rare disease characterized by thickened peripheral nerves which may be palpable and visible. This case was treated by excision of transverse carpal ligament and external and internal neurolysis.
Hereditary Sensory and Motor Neuropathy ; Ligaments ; Median Nerve ; Peripheral Nerves ; Rare Diseases

A case of progressive hypertrophic interstitial neuropathy developed in the median nerve of the right hand is reported. The patient was a 27-year old housewife who had complained of numbness and shooting pain on the median nerve distribution of the right hand for last 13 years, with recent aggrevation. And clinically palpated thickened sausage like mass in right distal forearm and palm mainly at the thenar eminence. Most part of redundant tumor tissus was excised, and complete excision of the transverse carpal ligament for release of compression and adhesiolysis was performed with relief of the symptoms.
Forearm ; Hand ; Hereditary Sensory and Motor Neuropathy ; Humans ; Hypesthesia ; Ligaments ; Median Nerve

Hereditary peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (HMSN), hereditary motor neuropathies (HMN), and hereditary sensory neuropathies (HSN). HMSN, HMN, and HSN are further subdivided into several subtypes. Here, we review the most recent findings in the molecular diagnosis and therapeutic strategy for hereditary peripheral neuropathies. The products of genes associated with hereditary peripheral neuropathy phenotypes are important for neuronal structure maintenance, axonal transport, nerve signal transduction, and functions related to the cellular integrity. Identifying the molecular basis of hereditary peripheral neuropathy and studying the relevant genes and their functions is important to understand the pathophysiological mechanisms of these neurodegenerative disorders, as well as the processes involved in the normal development and function of the peripheral nervous system. These advances and the better understanding of the pathogenesis of peripheral neuropathies represent a challenge for the diagnoses and managements of hereditary peripheral neuropathy patients in developing future supportive and curative therapies.
Axonal Transport ; Hereditary Sensory and Autonomic Neuropathies ; Hereditary Sensory and Motor Neuropathy ; Humans ; Neurodegenerative Diseases ; Neurons ; Peripheral Nervous System ; Peripheral Nervous System Diseases ; Phenotype ; Signal Transduction ; Wills

Charcot-Marie-Tooth disease (CMT) 2A with optic atrophy is referred to as hereditary motor and sensory neuropathy type VI (HMSN VI) and is caused by mitofusin 2 gene (MFN2) mutation. In patients with MFN2 related CMT, central nervous system is known to be also involved and cerebral white matter is mostly involved. We report a patient confirmed as HMSN VI who had isolated bilateral middle cerebellar peduncular lesions in brain MRI.
Brain ; Central Nervous System ; Charcot-Marie-Tooth Disease ; Hereditary Sensory and Motor Neuropathy* ; Humans ; Magnetic Resonance Imaging ; Mitochondria ; Optic Atrophy

BACKGROUND: Mutations in the myelin protein zero (MPZ) gene, which is located on chromosome 1q21-q22, is present in Charcot-Marie-Tooth disease type 1B (CMT1B), CMT type 2, Dejerine-Sottas syndrome, and congenital hypomyelination neuropathy. It is proposed that the nature and position of the MPZ mutations mainly determine the axonal and demyelinating phenotypes. In this study, we investigated to determine the clinical and electrophysiological characteristics in CMT patients with mutations in the MPZ gene. METHODS: We examined mutations of MPZ, in 62 Korean families diagnosed as having CMT disease. Mutations were confirmed by through both strands sequencing. Nerve conduction studies were carried out in CMT patients having each mutation. RESULTS: The three mutations (Asp118Asn, c.449-1G>T (3'-splice site), Lys236Glu), determined to be novel, were not detected in the 105 healthy controls. The mutation frequency of MPZ was similar as those found in several European populations. Electrophysiologically, 3'-splice site mutation (449-1G>T) showed the conduction block and moderate slowing nerve conduction velocities like that of CMT1B. However, the other mutations represented the electrophysiological features of CMT type 2. CONCLUSIONS: We report the identified three novel MPZ mutations in Korean CMT patients and the phenotype-genotype correlations based on nerve conduction studies.
Axons ; Charcot-Marie-Tooth Disease ; Hereditary Sensory and Motor Neuropathy ; Humans ; Mutation Rate ; Myelin P0 Protein* ; Myelin Sheath* ; Neural Conduction ; Phenotype

BACKGROUND: Charcot-Marie-Tooth (CMT) disease is the most common form of inherited motor and sensory neuropathy. Neurofilament light chain polypeptide (NEFL) is one of the most abundant cytoskeletal components of the neuron. The NEFL gene encoding the neurofilament light chain plays an important role in the axonal structure that includes an extensive fibrous network in the cytoplasm of the neuron. Mutations in the NEFL gene are also present in CMT2E, CMT type 1 and Dejerine-Sottas syndrome. However, there have been no reports to investigate the NEFL genes in Korean CMT patients. Therefore, we investigated to find the clinical characteristics in patients with the NEFL gene mutation. METHODS: We examined mutations of the NEFL gene in 125 Korean CMT families. Mutations were confirmed by the sequencing of both strands. Nerve conduction studies were carried out on CMT patients having each mutation. RESULTS: Three pathogenic mutations were found in 3 families, and 2 polymorphisms in 2 families. Two mutations (Leu334Pro, Pro22Arg) were determined too novel, and those were not detected in 105 healthy controls. A de novo missense mutation was found in a CMT family with the NEFL mutation. The frequency of the NEFL mutation was 2.4%, which was similar in Europeans, and lower than those found in Japanese. Pro22Arg and Glu397Lys mutations showed demyelinating neuropathy and Leu334pro mutation showed axonal neuropathy. CONCLUSIONS: We found NEFL mutations in patients with sporadic or dominantly inherited CMT. NEFL mutations should be considered in the evaluation of CMT or related neuropathies with various clinical features.
Asian Continental Ancestry Group ; Axons ; Charcot-Marie-Tooth Disease* ; Cytoplasm ; Hereditary Sensory and Motor Neuropathy ; Humans ; Mutation, Missense ; Neural Conduction ; Neurons