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At least 523 records · Page 29Linked to original sources
PubMed2006

Mivacurium-induced neuromuscular block in adult patients suffering from Charcot-Marie-Tooth disease.

PURPOSE: The response to non-depolarizing neuromuscular blocking drugs is variable in patients with Charcot-Marie-Tooth (CMT) disease. We speculated that CMT involvement of the monitored muscle may be partially responsible for this inconsistency. We therefore investigated the response to a standard dose of mivacurium simultaneously assessed at adductor pollicis (AP) and orbicularis oculi (OO) muscles in five patients with CMT. CLINICAL FEATURES: Over a period of one year, five adult patients with CMT scheduled for orthopedic surgery were studied. The right arm and the right supercilliary arch were prepared for acceleromyographic (AMG) neuromuscular monitoring. The AMG probes were attached at the distal interphalangeal joint of the right thumb and on the right upper eyelid to record the response of the AP and OO, respectively. The ulnar nerve and upper part of the facial nerve were stimulated supramaximally with repeated train-of-four stimuli (2 Hz, 0.2 msec) every 15 sec via applied surface electrodes. Following monitor calibration and induction of general anesthesia, mivacurium 0.2 mg x kg(- 1) iv was given, and the time course of relaxation and recovery were assessed. Times to spontaneous recovery of T1 to 25% were 15 +/- 3 vs 12 +/- 4 min in the AP and OO muscle groups respectively, whereas times to 90% recovery were 23 +/- 5 vs 29 +/- 10 min, respectively. CONCLUSION: The onset and recovery characteristics associated with mivacurium-induced neuromuscular block were similar at the AP and OO muscle groups. A near normal response to mivacurium was observed in this small series of patients with CMT disease.

Adult↗
PubMed2002

The genetic convergence of Charcot-Marie-Tooth disease types 1 and 2 and the role of genetics in sporadic neuropathy.

Charcot-Marie-Tooth (CMT) disease represents a clinically and genetically heterogeneous group of inherited neuropathies caused by aberration of the intimate relationship between the myelin sheath and the axon; disorders causing demyelination are classified as CMT1 and those causing axonal loss as CMT2. The mechanisms by which mutations disturb the relationship of the myelin sheath and axon are not fully understood; however, we hypothesize that some mutations affect this relationship more profoundly than others, and thus account for the paradox that mutation of a "myelin gene" can present with electrophysiologic features of CMT2 and vice versa. Also, contrary to popular understanding, inherited neuropathies account for a substantial number of chronic peripheral neuropathies. Because of this observation, we propose that molecular diagnosis is a necessary adjunct for differentiating genetic and acquired peripheral neuropathies, even in sporadic chronic neuropathy.

Charcot-Marie-Tooth Disease↗
PubMed2004

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models.

Mutations in the neurofilament light (NFL) gene cause Charcot-Marie-Tooth (CMT) disease. There is a wide range of clinical presentations in CMT patients harboring NFL mutations, with patients classified as CMT2E or CMT1F. In this study, we analyzed the effects of five NFL mutations on the assembly and intracellular distribution of intermediate filaments (IFs), and compared the results with those obtained previously for other NFL mutations. Although all NFL mutants affected the formation of IF networks, our data show differential effects on the assembly of IFs depending on the exact nature of the mutation. Defective transport of the mutant NFL subunits was observed for all the CMT-linked NFL mutations, but the characteristics of this defect also depended on the specific mutation. These results show that defects in the assembly and transport of NFs are common to all NFL mutants studied thus far, but the exact nature of the defect appears to be correlated with each mutant genotype.

Biological Transport↗
PubMed1977

Argyll-Robertson-like pupils in the neural type of Charcot-Marie-Tooth disease.

The authors report of Argyll-Robertson-like pupils in three patients presenting the neural type of Charcot-Marie-Tooth (CMT) disease with peroneal muscular atrophy. Up to now the light-near dissociation had been reported in the hypertrophic variety of CMT disease. Stress is laid upon the fact that the presence of the light-near dissociation in patients with CMT disease does not help in clinically differentiating the neural from the hypertrophic type of this disease.

Charcot-Marie-Tooth Disease↗
PubMed2003

Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.

Autosomal recessive forms of axonal Charcot-Marie-Tooth (ARCMT2) disease are frequent in some areas, such as North Africa and the Middle East, since consanguineous marriages are still common there. Recently, a unique homozygous mutation in LMNA, which encodes lamin A/C, a component of the nuclear envelope, was identified in members of three Algerian families with ARCMT2 linked to chromosome 1q21.2-q21.3. In the present study we describe a group of 21 ARCMT2 patients from seven unrelated Algerian families with the same R298C mutation in the lamin A/C gene and marked variability of the clinical phenotype. There is a wide range of age of onset, from 6 to 27 years, with a mean of 14.4 +/- 4.6 years. The course of the disease varies considerably from one patient to another. Twelve patients with a disease duration of 10-15 years had a severe CMT phenotype with distal wasting and weakness of all four limbs and areflexia associated with involvement of the proximal lower limb muscles. In contrast, nine patients had the classical CMT phenotype with mild functional disability without proximal lower limb involvement after a disease duration of 5-18 years. Electrophysiological studies showed a median motor nerve conduction velocity (MNCV) in the normal range in almost all the patients. MNCV and compound muscle action potential (CMAP) values were inversely correlated with the disease duration and the MNCV was strictly related to the CMAP, strongly supporting a pure axonal process without a demyelinating component. Six patients had a nerve biopsy, which revealed severe rarefaction of myelinated fibres in all cases and an increased density of unmyelinated fibres in the majority of cases. In conclusion, the ARCMT2 associated with the R298C mutation differs from other types of ARCMT2. The variability among patients in the age of onset and the course of the disease strongly suggests the action of modifying genes, which remain to be identified.

Adolescent↗
PubMed1997

Myasthenia gravis and Charcot-Marie-Tooth disease type 1A: an unusual combination of diseases.

Concurrence of myasthenia gravis (MG) and Charcot-Marie-Tooth type 1 (CMT1A) neuropathy is rare. We describe a 60-year-old woman with MG and genetically proved CMT1A. The fluctuating ocular symptoms and proximal limb weakness were markedly improved by pyridostigmine treatment. Recognition of the possible association of MG and CMT1A in the same patient is important because the therapeutic result is rewarding.

Charcot-Marie-Tooth Disease↗
PubMed1984

Nephropathy associated with Charcot-Marie-Tooth disease.

In this report, we describe a case of 14-year-old girl with Charcot-Marie-Tooth (CMT) disease and the nephropathy which was characterized by heavy proteinuria and microscopic hematuria. She progressed to renal failure with clinical duration of 4 years from the onset of disease. Renal biopsy specimens revealed the features of focal segmental glomerulosclerosis (FSGS). The patient has also a bilateral sensorineural deafness. Although the clinical features show similarities to those of the Alport syndrome, electron microscopic examination did not disclose the glomerular basement membrane changes which were characteristic of the Alport syndrome. The association of nephropathy with CMT disease is discussed, as compared with previous report.

Adolescent↗
PubMed2001

Behavioural profiling of a murine Charcot-Marie-Tooth disease type 1A model.

Different features of motor behaviour were studied on a transgenic mouse model of Charcot-Marie-Tooth's disease (CMT). Mutants with 4 or 7 copies of the human PMP22 gene leading to a phenotype significantly close to CMT's disease type 1A were compared with control animals. The aim of the study was to validate this transgenic model and to characterise the impairments occurring in the various lines. Three main types of analysis were performed in 2-month-old mice without any peculiar visible deficit: (i) a study of standardised clinical tests (SHIRPA protocol) demonstrated that only a few motor deficits were expressed; (ii) a measurement of general spontaneous activity by means of a commercial video-tracking system was performed and revealed that the main spontaneous activities were identical in the three lines with, however, some slight localised modifications; and, (iii) by contrast, the three lines respond very differently to the footprints, grip strength, splay test and rotarod test. Even in lines with a significantly limited copy number of the transgene, we observed and quantified impairments. In conclusion, mutants of CMT1A seem to be a very pertinent model of this human pathology and will certainly be useful for therapeutic procedures and for theoretical studies on this disease.

Animals↗
PubMed2000

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.

Charcot-Marie-Tooth (CMT) disease is the most common inherited motor and sensory neuropathy. The axonal form of the disease is designated as "CMT type 2" (CMT2). Although four loci known to be implicated in autosomal dominant CMT2 have been mapped thus far (on 1p35-p36, 3q13. 1, 3q13-q22, and 7p14), no one causative gene is yet known. A large Russian family with CMT2 was found in the Mordovian Republic (Russia). Affected members had the typical CMT2 phenotype. Additionally, several patients suffered from hyperkeratosis, although the association, if any, between the two disorders is not clear. Linkage with the CMT loci already known (CMT1A, CMT1B, CMT2A, CMT2B, CMT2D, and a number of other CMT-related loci) was excluded. Genomewide screening pinpointed the disease locus in this family to chromosome 8p21, within a 16-cM interval between markers D8S136 and D8S1769. A maximum two-point LOD score of 5.93 was yielded by a microsatellite from the 5' region of the neurofilament-light gene (NF-L). Neurofilament proteins play an important role in axonal structure and are implicated in several neuronal disorders. Screening of affected family members for mutations in the NF-L gene and in the tightly linked neurofilament-medium gene (NF-M) revealed the only DNA alteration linked with the disease: a A998C transversion in the first exon of NF-L, which converts a conserved Gln333 amino acid to proline. This alteration was not found in 180 normal chromosomes. Twenty unrelated CMT2 patients, as well as 26 others with an undetermined form of CMT, also were screened for mutations in NF-L, but no additional mutations were found. It is suggested that Gln333Pro represents a rare disease-causing mutation, which results in the CMT2 phenotype.

Amino Acid Sequence↗
PubMed1986

Charcot-Marie-Tooth disease in northern Finland.

This study presents the main clinical and electrophysiological features of patients with Charcot-Marie-Tooth (CMT) disease or hereditary motor and sensory neuropathy (HMSN) in Northern Finland diagnosed during the period 1969-1983. The group consists of 40 patients aged between 5 and 74 years. A positive family history suggesting a dominant inheritance was seen in 23 patients--the rest were classified as sporadic. According to median or sural nerve conduction velocities the disease was graded as demyelinating (HMSN type I) and neuronal (HMSN type II). A clear tendency towards an earlier onset was seen in type I cases compared to those in type II. Both clinically and neurophysiologically the lower arms were more severely affected in type I than in type II. Muscular atrophy of the legs occurred more often in type I than in type II. Electromyographic abnormalities were characteristically neurogenic, though in some advanced cases small motor unit potentials could also be seen. In addition 2 cases originally diagnosed as CMT proved to be distal myopathy on electromyography (EMG). According to electrodiagnostic criteria, patients in the same family could belong to different subgroups of CMT suggesting that the present use of conduction velocities as the discriminating factor between the groups may be unsound.

Adolescent↗
PubMed1996

Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.

A Spanish family with X linked dominant Charcot-Marie-Tooth (CMTX1) neuropathy was screened for point mutations in the connexin32 gene (GJ beta 1). The patients showed a C-T transition at position 552 which predicts arginine to tryptophan substitution at amino acid 164 (R164K). This mutation destroys an AciI restriction site at position 552 and creates a PflMI restriction site.

Arginine↗
PubMed1978

The uptake of 3H(G)L leucine into single muscle fibers in Charcot-Marine-Tooth disease.

In previous studies, the incorporation of 3H(G)L-leucine into muscles of patients with Charcot-Marie-Tooth (CMT) disease was shown to be increased in comparison with that observed in motor neuron disease (MND). To determine the cause of the increased uptake in CMT, studies of single fiber leucine incorporations have been undertaken. The results of this study indicate that the increased incorporation is into those muscle fibers which are undergoing regeneration following reinnervation. These results do not support the thesis that there is an associated myopathic process in CMT.

Charcot-Marie-Tooth Disease↗