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At least 19 recordsLinked to original sources
PubMed1977

An autoradiographic study of muscular dystrophy, motor neuron disease and Charcot-Marie-Tooth disease.

The autoradiographic findings using tritiated leucine are described in muscle biopsy material from five patients with progressive muscular dystrophy (P.M.D.), three with motor neuron disease (M.N.D.) and four with Charcot-Marie-Tooth disease (C.M.T.). In progressive muscular dystrophy there is a marked increase in uptake of leucine into cytoplasmic proteins and precursors, and reduced incorporation into structural protein. In Charcot-Marie Tooth disease muscle there is a significantly increased uptake into cytoplasmic elements and a normal uptake into structural protein. In motor neuron disease the uptake into cytoplasmic elements appears normal but is reduced into structural proteins. The abnormal uptake in C.M.T. could be explained as a product of regenerative efforts associated with reinnervation. However, the abnormal uptake may represent the primary effects of gene action in the muscle, as seems probable in progressive muscular dystrophy.

Charcot-Marie-Tooth Disease↗
PubMed1979

Cardiac findings in Charcot-Marie-Tooth disease. A prospective study of 68 patients.

Charcot-Marie-Tooth disease (peroneal muscular atrophy) has been reported to cause cardiac arrthymias and conduction disturbances in association with peripheral muscle atrophy. To establish more accurately the frequency of such cardiac disorders in this disease, 68 patients with Charcot-Marie-Tooth disease were evaluated prospectively for evidence of cardiac involvement. Cardiac findings were limited to five patients with conduction defects, two patients with supraventricular tachycardia, two patients with ischemic heart disease, and 20 with mitral valve prolapse. The frequency of each of the abnormal cardiac findings, with the possibly emalities in the population at large. The low incidence of cardiac involvement in patients with Charcot-Marie-Tooth disease may be helpful in distinguishing this disorder from Friedreich's ataxia, an entity that may mimic Charcot-Marie-Tooth disease but that is frequently associated with heart disease.

Adult↗
PubMed1976

Charcot-Marie-Tooth disease associated with "essential tremor": Report of 7 cases and a review of the literature.

A study of 7 cases of Charcot-Marie-Tooth disease associated with a dyskinesia resembling benign essential tremor is presented. In 4 patients, the family history strongly suggested an autosomal mode of transmission, 2 cases were sporadic without an established genetic pattern and 1 was probably recessive. The distal parts of the upper and lower limbs showed imparied muscle strength with slight or no atrophy in 4 patients and conspicuous weakness and wasting in another 2. One patient was a chairbound. Although essential tremor and the tremor seen in these patients are clinically (phenotypically) similar it seems possible that they result from two different genotypes. Further, it seems that cases with Charcot-Marie-Tooth disease and "essential tremor" are not the result of the association of two separate dominant characteristics which are generally inherited as mendelian dominant traits. In spite of the diversity of the clinical manifestations of the peripheral neuropathy, the semiologically different types of essential tremor and the electrophysiological data, it is concluded that patients who develop a peripheral neuropathy on a familial basis and who exhibit clinical features of similar character, suffer from a common type of pathological disorder. Stress is laid upon the fact that Friedreich's ataxia and Charcot-Marie-Tooth disease share many clinical features. It is suggested that when Friedreich's ataxia and Charcot-Marie-Tooth disease seem to be present in the same individual and/or alternate in different members of the same family, the process is likely to be one of Charcot-Marie-Tooth disease. The value of the type of inheritance, natural history, clinical examination and electrophysiological data in differentiating Charcot-Marie-Tooth disease (with or without essential tremor) from other degenerative disorders is analyzed.

Adolescent↗
PubMed1979

Charcot-Marie-Tooth disease and schizophrenia in identical twins.

Charcot-Marie-Tooth disease and schizophrenia occurred in monozygotic twins. Dermatoglyphics and blood grouping determined monozygocity. Charcot-Marie-Tooth disease appeared to be an autosomal dominant trait transmitted from the mother. No definite evidence of inheritance was seen for schizophrenia.

Adult↗
PubMed1992

Evaluation and management of upper extremity neuropathies in Charcot-Marie-Tooth disease.

The evaluation and treatment of five patients with upper extremity neuropathies secondary to Charcot-Marie-Tooth disease were reviewed with emphasis on age at onset of Charcot-Marie-Tooth disease and upper extremity deformities, clinical findings, signs of associated nerve compression, and outcome of surgical treatment. The onset of the disease generally occurred in the first or second decade of life. The onset of upper extremity symptoms lagged behind by an average of 8 years. All patients had intrinsic minus hands with decreased sensibility. Three of five patients had clinical or electrophysiologic evidence of associated nerve compression syndromes. Treatment with standard tendon transfers, nerve compression releases, soft tissue releases, and joint fusions resulted in subjectively improved function in three of four patients undergoing reconstruction. Release of six compression neuropathies in one patient provided excellent pain relief, but the underlying neuropathy progressed. Pessimism regarding reconstructive surgery in the patient with upper extremity neuropathies secondary to Charcot-Marie-Tooth disease is unwarranted.

Adult↗
PubMed1992

Gene dosage is a mechanism for Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is the most common inherited peripheral neuropathy in humans, characterized electrophysiologically by decreased nerve conduction velocities (NCVs). CMT1A is associated with a large submicroscopic DNA duplication in proximal 17p. In this report we demonstrate that a patient with a cytogenetically visible duplication, dup(17)(p11.2p12), has decreased NCV. Molecular analysis demonstrated this patient was duplicated for all the DNA markers duplicated in CMT1A as well as markers both proximal and distal to the CMT1A duplication. These data support the hypothesis that the CMT1A phenotype can result from a gene dosage effect.

Charcot-Marie-Tooth Disease↗
PubMed1992

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is associated with a DNA duplication at chromosome 17p11.2. In view of the point mutation in the gene for peripheral myelin protein pmp-22/gas-3 in Trembler mice, a murine model for CMT1A, we have analysed whether this gene is altered in CMT1A. Here we show that the human homologue of the murine pmp-22 gene is located within the CMT1A DNA duplication, which is a direct repeat and does not interrupt the coding region of PMP-22. Expression of PMP-22 in CMT1A fibroblasts is similar to expression in control fibroblasts. Increased gene dosage or altered PMP-22 expression in the peripheral nervous system are therefore possible mechanisms by which PMP-22 is involved in CMT1A.

Base Sequence↗
PubMed1992

The gene for the peripheral myelin protein PMP-22 is a candidate for Charcot-Marie-Tooth disease type 1A.

Charcot-Marie-Tooth disease type 1A (CMT1A) is an autosomal dominant peripheral neuropathy associated with a large DNA duplication on the short arm of human chromosome 17. The trembler (Tr) mouse serves as a model for CMT1A because of phenotypic similarities and because the Tr locus maps to mouse chromosome 11 in a region of conserved synteny with human chromosome 17. Recently, the peripheral myelin gene Pmp-22 was found to carry a point mutation in Tr mice. We have isolated cDNA and genomic clones for human PMP-22. The gene maps to human chromosome 17p11.2-17p12, is expressed at high levels in peripheral nervous tissue and is duplicated, but not disrupted, in CMT1A patients. Thus, we suggest that a gene dosage effect involving PMP-22 is at least partially responsible for the demyelinating neuropathy seen in CMT1A.

Amino Acid Sequence↗
PubMed1979

Variation of phenotype in Charcot-Marie-Tooth disease.

A two year old from a family with typical Charcot-Marie-Tooth disease has extensive ocular and central abnormalities, severe generalized neuropathy, and amyotrophy. Many abnormalities previously described in association with Charcot-Marie-Tooth disease are combined in this patient, including chorioretinal degeneration, optic atrophy, facial weakness, oligophrenia, and generalized amyotrophy. Documentation of the diagnosis in the child's ancestors and the precedent for each of his abnormalities suggest that these features represent a virulent expression of the inherited defect.

Amyotrophic Lateral Sclerosis↗
PubMed1992

The peripheral myelin protein gene PMP-22 is contained within the Charcot-Marie-Tooth disease type 1A duplication.

Charcot-Marie-Tooth disease (CMT1) is the most common form of inherited peripheral neuropathy. Although the disease is genetically heterogeneous, it has been demonstrated that the gene defect is the most frequent type (CMT1A) is the result of a partial duplication of band 17p11.2. Recent studies suggested that the peripheral hypomyelination syndrome in the trembler (Tr) mouse, a possible animal model for CMT1 disease, is associated with a point mutation in the peripheral myelin protein-22 gene (pmp-22). Expression of pmp-22 is particularly high in Schwann cells, and the protein is found in peripheral myelin. We now report that the human PMP-22 gene is contained within the CMT1A duplication. We therefore, suggest that increased dosage of the PMP-22 gene may be the cause of CMT1A neuropathy.

Base Sequence↗
PubMed1975

A family with Charcot-Marie-Tooth disease and Leber's optic atrophy.

A family has been studied in which members of 4 generations were affected by the hypertrophic type of Charcot-Marie-Tooth disease. The diagnosis was confirmed by electrophysiological studies and by sural nerve biopsy. 10 members of the family, 8 males and 2 females, developed optic atrophy of acute onset with progression over a period of two to six months. The history of visual failure, its maternal inheritance, and the neuro-ophthalmological findings of optic atrophy with bilateral central scotomata were typical of Leber's optic atrophy. 2 members of the family suffered from both Charcot-Marie-Tooth disease and Leber's optic atrophy. There have been a few previous reports of optic atrophy associated with Charcot-Marie-Tooth disease, and in the present family both conditions appeared to have been inherited independently.

Adolescent↗
PubMed1978

Charcot-Marie-Tooth disease with Leber optic atrophy.

A family is described in which visual failure was associated with hypertrophic Charcot-Marie-Tooth disease. The diagnosis of Charcot-Marie-Tooth disease was confirmed by electrophysiologic studies and by quantitative histologic studies of sural nerve biopsies. The clinical features and mode of inheritance of the visual failure were those of Leber optic atrophy. The two conditions were inherited independently.

Adolescent↗
PubMed2024

Dominant NARS1 mutations causing axonal Charcot-Marie-Tooth disease expand NARS1-associated diseases.

Pathogenic variants in six aminoacyl-tRNA synthetase (ARS) genes are implicated in neurological disorders, most notably inherited peripheral neuropathies. ARSs are enzymes that charge tRNA molecules with cognate amino acids. Pathogenic variants in asparaginyl-tRNA synthetase (NARS1) cause a neurological phenotype combining developmental delay, ataxia and demyelinating peripheral neuropathy. NARS1 has not yet been linked to axonal Charcot-Marie-Tooth disease. Exome sequencing of patients with inherited peripheral neuropathies revealed three previously unreported heterozygous NARS1 variants in three families. Clinical and electrophysiological details were assessed. We further characterized all three variants in a yeast complementation model and used a knock-in mouse model to study variant p.Ser461Phe. All three variants (p.Met236del, p.Cys342Tyr and p.Ser461Phe) co-segregate with the sensorimotor axonal neuropathy phenotype. Yeast complementation assays show that none of the three NARS1 variants support wild-type yeast growth when tested in isolation (i.e. in the absence of a wild-type copy of NARS1), consistent with a loss-of-function effect. Similarly, the homozygous knock-in mouse model (p.Ser461Phe/Ser472Phe in mouse) also demonstrated loss-of-function characteristics. We present three previously unreported NARS1 variants segregating with a sensorimotor neuropathy phenotype in three families. Functional studies in yeast and mouse support variant pathogenicity. Thus, NARS1 is the seventh ARS implicated in dominant axonal Charcot-Marie-Tooth disease, further stressing that all dimeric ARSs should be evaluated for Charcot-Marie-Tooth disease.

Charcot–Marie–Tooth disease↗
PubMed1978

Hereditary angioneurotic edema and Charcot-Marie-Tooth disease in the same family.

In one family two genetic diseases were transmitted as autosomal dominant traits; hereditary angioneurotic edema was inherited from the paternal side and Charcot-Marie Tooth disease from the maternal side of the family. The conditions occurred separately in 8 and 11 members respectively and together (an exceedingly rare occurrence) in 3. Of six siblings, two girls and four boys, all had Charcot-Marie-Tooth disease, and three, the two girls and one of the boys, also had hereditary angioneurotic edema.

Adolescent↗
PubMed1979

Charcot-Marie-Tooth disease associated with 'essential tremor' and normal and/or slightly diminished motor conduction velocity. Report of 7 cases.

We present a study of 7 cases of Charcot-Marie-Tooth disease, associated with a dyskinesia clinically identical with essential tremor, in which motor conduction velocity in the upper limbs was normal or slightly diminished. An analysis of age of onset, sex distribution and clinical signs from cases in the literature is compared with the present series. A family with Charcot-Marie-Tooth disease in which affected members have widely different motor conduction velocity values is reported. Stress is laid upon the fact that categorization of this disease on electrophysiological studies in the upper limbs may present considerable difficulties.

Adult↗
PubMed1979

Neuromyotonia in the spinal form of Charcot-Marie-Tooth disease.

The term neuromyotonia has been applied to spontaneous activity of peripheral motor nerves which gives rise to pseudomyotonia, muscular fasciculations and myokymia. A family is described in which 8 members of 3 generations suffer from the spinal form of Charcto-Marie-Tooth disease (distal type of chronic spinal atrophy). 5 of the 8 members were examined and found to have myokymia, accentuated by voluntary muscle contraction. Pseudomyotonia was present in 2 patients and, in the 1 patient treated, was abolished by carbamazepine. The association between neuromyotonia and charcto-Marie-Tooth disease has been reported in only 7 patients before but may be more common than previously thought because muscle cramps are reported to be a feature of this disorder.

Adult↗
PubMedDate not supplied

F-wave conduction velocity in the deep peroneal nerve: Charcot-Marie-Tooth disease and dystrophia myotonica.

The F-wave has been used to estimate the motor nerve conduction velocity (MNCV) along the proximal segment (spinal cord to knee) of the axons of the deep peroneal nerve in patients with Charcot-Marie-Tooth disease and those with dystrophia myotonica. A new, modified method has been applied to estimate proximal MNCV in patients in whom F-waves or M-responses cannot be obtained from the small muscles of the foot. Terminal latencies and MNCV along the distal nerve segment (knee to ankle) have also been estimated using conventional techniques. The results have been compared with those obtained for control subjects. Proximal MNCV was severely slowed in every patient with Charcot-Marie-Tooth disease; the degrees of proximal and distal MNCV decreases were related. In patients with dystrophia myotonica, distal and proximal MNCVs were significantly reduced in comparison with control subjects, the MNCV slowing was not related to the degree of muscle atrophy. This is consistent with the hypothesis that the nerves and muscles are independently affected in dystrophia myotonica. It is concluded that the F-wave MNCV technique is as useful as, and may be more sensitive than, the conventional MNCV method.

Adolescent↗