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PubMed1995

[The diagnosis and prevalence of locus CMT1A duplication in Charcot-Marie-Tooth disease type 1].

BACKGROUND: The Charcot-Marie-Tooth (CMT) disease or hereditary motor-sensitive neuropathy (HMSN) is the most frequent hereditary neuropathy. The demyelinated or type 1 form (CMT1) is the most frequently presented, commonly being of a dominant autosomic inheritance. CMT1 is heterogeneous genetically and the subjacent mutation found in most of the cases is a duplication of 1,500 kb in the CMT1A locus of chromosome 17p11.2. The aim of the present study was to determine the prevalence of CMT1A duplication in patients with CMT1 and evaluate its usefulness as a biological diagnostic marker. METHODS: The study was carried out in a group of patients with HMSN who were not related, and were distributed according to the following diagnostic categories: CMT1 (n = 49), CMT2 (n = 9), untyped CMT (n = 11) and Déjérine-Sottas (DS) disease (n = 4). To detect three alleles confirming the presence of duplication the DNA of the patients was analyzed with four polymorph markers, VAW409R3a, RM11-GT, VAW412R3HEc and EW401HE localized in the CMT1A locus. RESULTS: CMT1A duplication was found in 68.7% of the patients with CMT1 and in 27.2% of untyped CMT patients. None of the individuals in the CMT2 and DS categories showed duplication. Cases pertaining to families with dominant autosomic inheritance and genetically sporadic cases were confirmed to show a high prevalence of duplication, being of 83.3% and 85.7%, respectively. CONCLUSIONS: Duplication of the CMT1A locus is the most prevalent mutation found in Charcot-Marie-Tooth type 1 disease. It is a specific mutation of this disease among the different forms of hereditary motor-sensitive neuropathy. This mutation is useful as a biological marker in the diagnosis of these neuropathies.

Alleles↗
PubMedDate not supplied

Total intravenous anaesthesia in Charcot-Marie-Tooth disease. Case report.

A Total Intravenous Anaesthesia (TIVA) protocol in a case of hereditary motor-sensory neuropathy Charcot-Marie-Tooth disease in three consecutive orthopaedic surgical procedures is described. History, physical examination and sural nerve fascicular biopsy findings are reported. Problems related to the perioperative anaesthesiological management in peripheral neuropathies are discussed. Propofol and fentanyl without muscle relaxants, proved to be a safe technique, fast at reaching the level of surgical anaesthesia required, manageable for maintenance and rapidly reversible.

Adult↗
PubMed2006

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

PURPOSE: To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency. METHODS: CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1, EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed CMT1 patients of Chinese ancestry. RESULTS: The CMT1A duplication was detected in 62.5% (20/32) CMT1 patients. This duplication accounts for the major mutation for Chinese CMT1. Among 12 cases that have no CMT1A duplication detected, three point mutations including one (3.1%) in MPZ and two (6.3%) in Cx32 were identified. No mutation was detected in genes PMP22, EGR2 and LITAF among the remaining nine (28.1%) CMT1 patients. CONCLUSION: The mutation frequency for the Chinese CMT1 is similar to that seen in the global ethnic population. Molecular testing of the CMT1A duplication, along with the loci of MPZ and Cx32, may detect the majority of Chinese CMT1 patients.

Amino Acid Substitution↗
PubMed2000

Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3 in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene.

Autosomal recessive Charcot-Marie-Tooth disease (CMT) type 4 (CMT4) is a complex group of demyelinating hereditary motor and sensory neuropathies presenting genetic heterogeneity. Five different subtypes that correspond to six different chromosomal locations have been described. We hereby report a large inbred Lebanese family affected with autosomal recessive CMT4, in whom we have excluded linkage to the already-known loci. The results of a genomewide search demonstrated linkage to a locus on chromosome 19q13.1-13.3, over an 8.5-cM interval between markers D19S220 and D19S412. A maximum pairwise LOD score of 5.37 for marker D19S420, at recombination fraction [theta].00, and a multipoint LOD score of 10.3 for marker D19S881, at straight theta = .00, strongly supported linkage to this locus. Clinical features and the results of histopathologic studies confirm that the disease affecting this family constitutes a previously unknown demyelinating autosomal recessive CMT subtype known as "CMT4F." The myelin-associated glycoprotein (MAG) gene, located on 19q13.1 and specifically expressed in the CNS and the peripheral nervous system, was ruled out as being the gene responsible for this form of CMT.

Adolescent↗
PubMed1989

[Epidural anesthesia for a patient with Charcot-Marie-Tooth disease, bronchial asthma and hypothyroidism].

The patient was a 75-year-old male with a history of Charcot-Marie-Tooth disease (CMT), bronchial asthma and hypothyroidism simultaneously. Epidural anesthesia was planned for the open reduction of a femur fracture. CMT is one of the hereditary motor and sensory neuropathies, and there may be no report in Japan that epidural anesthesia was applied to a patient with CMT. It has been suggested that neuromuscular disease is a contraindication to epidural anesthesia, but the patient had such a severe gait disturbance that he might not be able to walk by himself postoperatively without any aggravation of the neuropathy. In addition, there existed the other simultaneous complications, especially severe respiratory insufficiency. Therefore we dared to administer epidural anesthesia. The epidural anesthesia was safely performed during the operation and there was no untoward effects postoperatively.

Aged↗
PubMed1993

Charcot-Marie-tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2-->12.

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve conduction velocities characteristic of CMT1A. This patient was not informative for the DNA markers mapping to the CMT1A region; however, with DNA markers pA10-41 and EW503 that map proximally and distally with respect to the disease locus, a dosage difference was observed between the two alleles. Comparison with parental genotypes indicated a de novo maternal duplication. Pulsed field gel analysis using probe VAW409R3a indicated that a 500-kb SacII junction fragment usually associated with CMT1A was absent in this patient. These findings confirm that the disease phenotype is probably caused by a gene dosage effect.

Charcot-Marie-Tooth Disease↗
PubMed2001

[X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation].

OBJECTIVE: To study the Cx32 gene mutation in a X-linked recessive Charcot-Marie-Tooth disease (CMTXR) family. METHODS: Mutation analysis of Cx32 was screened by polymerase chain reaction single strand conformation polymorphism (PCR-SSCP) combined with DNA direct sequencing in 4 patients, 9 unaffected family members and 50 unrelated normal individuals. RESULTS: Arg15Gln mutation was found in 4 patients and 3 unaffected family members. CONCLUSION: The mutation of Cx32 can also cause CMTXR. Using PCR-SSCP combined with DNA direct sequencing can make gene diagnosis to CMTXR that is caused by Cx32 mutation.

Adult↗
PubMed1997

New mutations in the X-linked form of Charcot-Marie-Tooth disease.

Mutations in the gene for connexin 32 are associated with a chromosome X-linked form of Charcot-Marie-Tooth disease. The prevalence of this form is probably underestimated. We screened 12 candidate families and found 7 missense mutations of which 4 are new. These mutations are located in intra- and extramembraneous parts of the protein. Some mutations are probably present with a higher frequency. This study further confirms variation of connexin 32 mutations with scarcity in the second transmembrane domain and, so far, absence in the fourth transmembrane domain and in the carboxy-terminal region.

Charcot-Marie-Tooth Disease↗
PubMed1975

Myotonic pupils in Charcot-Marie-Tooth disease. Successful relief of symptoms with 0.025% pilocarpine.

Twenty-seven members of a family with dominantly inherited Charcot-Marie-Tooth disease (CMTD) were examined. Fifteen members had CMTD and 13 of these had varying amounts of myotonic pupillary abnormalities similar in some ways to Adie tonic pupil syndrome. Those with graver neurologic disease showed greater pupillary abnormalities. Ten of the 15 patients had pupillary constriction with methacholine chloride (Mecholyl) and some of these had extensive iris atrophy. Several affected patients received symptomatic relief from 0.025% pilocarpine. Seven other patients with CMTD who were not related to our initial family were checked for myotonic pupils; two had findings similar to our initial family. Pupillary abnormalities in certain patients with CMTD appear secondary to a parasympathetic denervation of the iris sphincter and ciliary muscle, as shown by a positive methacholine test, and probably represent part of the autonomic nervous system dysfunction associated with the polyneuropathy in CMTD.

Adult↗
PubMed2006

Early onset Charcot-Marie-Tooth disease caused by a homozygous Leu239Phe mutation in the GDAP1 gene.

Mutations in the ganglioside -induced differentiation-associated protein 1 (GDAP1) gene are common a cause of the Charcot-Marie-Tooth (CMT4A) disease with autosomal recessive mode of inheritance. To date more than twenty mutations in the GDAP1 gene have been reported in patients suffering from the demyelinating, axonal or mixed form of Charcot-Marie-Tooth disease. Only in a few CMT4A affected patients sural nerve biopsy findings have been provided. We report a homozygous Leu239Phe mutation in the GDAP1 gene in a 39-year-old female with a severe form of mixed axonal and demyelinating Charcot-Marie-Tooth disease.

Adult↗
PubMed2002

[Anesthetic management for a patient with Charcot-Marie-Tooth disease using propofol and nitrous oxide].

A 65-year-old woman who had been diagnosed as having Charcot-Marie-Tooth disease (CMTD) 8 years ago and was scheduled to undergo excision of a spinal tumor in the prone position. General anesthesia using propofol was selected as the anesthetic method in order to avoid possible occurrence of malignant hyperthermia due to inhalation anesthetics. The patient was given 80 mg of propofol for anesthetic induction, and then propofol was infused at a rate of 4-5 mg.kg-1.h-1 with intermittent administration of fentanyl (total dose of 0.25 mg) for anesthetic maintenance. Vecuronium 4 mg was injected for intratracheal intubation, and then vecuronium 1 mg was injected at 50 min intervals. The operation proceeded uneventfully. The necessary time for anesthesia was over 460 minutes. There was no delay in wakening, and the patient experienced no problems in the postoperative course. Intravenous anesthesia using propofol is thought to be a safe and effective method of anesthesia for patients with CMTD.

Aged↗
PubMed1995

[Phenotypic heterogeneity in Japanese Charcot-Marie-Tooth disease type 1A patients with PMP-22 gene duplication].

We studied phenotypic heterogeneity in 18 Japanese patients with Charcot-Marie-Tooth disease type 1A (CMT1A) with PMP-22 gene duplication, together with heterogeneity of duplication size. In order to detect the duplication of PMP-22 gene region, the PMP-22 cDNA and a polymorphic marker VAW409R3 were used as probes for Southern blot analysis. As the clinical phenotypes, we assessed the degree of foot deformity, muscular weakness and atrophy, tendon reflexes, sensory impairment and electrophysiologic and sural nerve biopsy findings. Although the degree of muscular weakness and atrophy was slightly more severe in the advanced age, there was a patient with calf hypertrophy in the older age or a patient with marked muscular atrophy of the leg in the younger age. The incidence of foot deformities and sensory impairment was high and these phenotypes did not relate to aging. Diminished or absent tendon reflexes and slowing of motor conduction velocities were commonly seen, but the motor conduction velocity varied greatly among the patients. The clinical phenotypes were extensively variable among the CMT 1A patients with the same gene mutation of PMP-22 gene duplication, suggesting that there is a factor other than PMP-22 gene duplication, which influences phenotypic manifestation in CMT 1A.

Adult↗
PubMed1998

Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

The X-linked form of Charcot-Marie-Tooth disease (CMTX) is associated with mutations in the gene encoding connexin32 (Cx32), which is expressed in Schwann cells. We have compared the functional properties of 11 Cx32 mutations with those of the wild-type protein by testing their ability to form intercellular channels in the paired oocyte expression system. Although seven mutations were functionally incompetent, four others were able to generate intercellular currents of the same order of magnitude as those induced by wild-type Cx32 (Cx32wt). In homotypic oocyte pairs, CMTX mutations retaining functional activity induced the development of junctional currents that exhibited changes in the sensitivity and kinetics of voltage dependence with respect to that of Cx32wt. The four mutations were also capable of interacting in heterotypic configuration with the wild-type protein, and in one case the result was a marked rectification of junctional currents in response to voltage steps of opposite polarity. In addition, the functional CMTX mutations displayed the same selective pattern of compatibility as Cx32wt, interacting with Cx26, Cx46, and Cx50 but failing to do so with Cx40. Although the functional mutations exhibited sensitivity to cytoplasmic acidification, which induced a >/=80% decrease in junctional currents, both the rate and extent of channel closure were enhanced markedly for two of them. Together, these results indicate that the functional consequences of CMTX mutations of Cx32 are of two drastically distinct kinds. The presence of a functional group of mutations suggests that a selective deficit of Cx32 channels may be sufficient to impair the homeostasis of Schwann cells and lead to the development of CMTX.

Animals↗
PubMed2003

Charcot-Marie-Tooth disease with giant axons: a clinicopathological and genetic entity.

The authors report an Italian family with autosomal-dominant Charcot-Marie-Tooth disease (CMT) in which there were giant axons in the sural nerve biopsy. Linkage to the known CMT2 loci (CMT2A, CMT2B, CMT2D, CMT2F) and mutations in the known CMT2 genes (Cx32, MPZ, NEFL), GAN, NEFM, and CMT1A duplication/HNPP deletion were excluded. This family with CMT and giant axons has a pathologic and genetic entity distinct from classic CMT.

Adult↗
PubMed2000

Mutations in the peripheral myelin protein zero and connexin32 genes detected by non-isotopic RNase cleavage assay and their phenotypes in Japanese patients with Charcot-Marie-Tooth disease.

Mutations of myelin protein zero (MPZ) and connexin32 (Cx32) genes were examined in 70 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT) without PMP22 gene duplication. A new method, which could detect base pair mismatches with Rnase cleavage on agarose gel electrophoresis, identified 5 and 4 mutations of the MPZ and Cx32 genes, respectively, including one novel mutation (Ser128Ter) of Cx32. This non-isotopic RNase cleavage assay (NIRCA) employed in the present study is very suitable for exploring mutations of MPZ and Cx32 genes in a large number of CMT patients, as the phenotype of patients with CMT is greatly divergent from demyelinating to axonal pathology.

Adolescent↗