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At least 973 records · Page 54Linked to original sources
PubMed1988

Double-blind controlled trials of Cronassial in chronic neuromuscular diseases and ataxia.

We report three 12-month, double-blind, three-phase studies comparing the effect of placebo and 40 mg and 100 mg IM daily of purified bovine brain gangliosides (Cronassial) in chronic neuromuscular diseases. Thirty patients with Charcot-Marie-Tooth disease, 16 with idiopathic polyneuropathy, and 30 with spinocerebellar degeneration had neuromuscular function measured monthly by quantitative testing of motor and sensory function, coordination, and electrophysiologic factors. Analysis of these studies, and of longer term (up to 2 years) open studies of 100 mg daily of Cronassial in 67 patients failed to show therapeutic efficacy of Cronassial. Statistical power calculations indicated that five of the 37 measures had greater than a 70% chance of detecting a 20% difference in the rate of progression of the active-drug and placebo groups. A number of measures significantly improved during prolonged placebo treatment, suggesting that the placebo effect has a strong influence on "objective" measures of neuromuscular function.

Adult↗
PubMed1996

[Distal spinal muscular atrophy].

Chronic spinal muscular atrophy usually presents in childhood or adolescence, generally as predominant proximal muscle weakness. Other less common forms involving distal muscles can be either partial or generalized and their prognosis is relatively good. At least three well-defined types can be identified: a) a form located in the upper extremities that typically affects young men, is not familial and is highly prevalent in Asia; b) a more generalized form that can be either familial or isolated and that resembles Charcot-Marie-Tooth disease in the distribution of muscle weakness and prognosis, and c) another generalized form that starts in and mainly involves the upper extremities, is inherited in an autosomal dominant manner and is accompanied by laryngeal involvement. We review the literature and describe 27 patients with distal spinal muscular atrophy resembling Charcot-Marie-Tooth disease.

Adolescent↗
PubMed2001

The frequency of 17p11.2 duplication and Connexin 32 mutations in 282 Charcot-Marie-Tooth families in relation to the mode of inheritance and motor nerve conduction velocity.

The 17p11.2 duplication and Connexin 32 (Cx32) mutations are the most frequent gene mutations responsible for Charcot-Marie-Tooth diseases. We classified 282 Charcot-Marie-Tooth families according to the median motor nerve conduction velocity of the index patient and the mode of inheritance, and screened them for 17p11.2 duplication and Cx32 mutations. Forty-seven percent of the Charcot-Marie-Tooth families had median motor nerve conduction velocity under 30 m/s (group 1), 15% between 30 and 40 m/s (group 2), and 28% over 40 m/s (group 3). Spinal Charcot-Marie-Tooth (group 4) was observed in 7% of the families. Modes of inheritance were not similarly represented among the different groups. The 17p11.2 duplication was detected in index patients of group 1 only, and accounted for 83% of the familial cases and 36% of the isolated cases. In contrast, 21 Cx32 mutations were detected to variable degrees in groups 1-3, but were most numerous by far in dominant families of group 2 (44%). This systematic approach was taken to estimate the frequency of 17p11.2 duplication and Cx32 mutations in the different Charcot-Marie-Tooth subgroups, in order to propose a practical strategy for molecular analysis.

Adult↗
PubMed1994

Spastic paraplegia with amyotrophy of the legs: a rare case of motor and sensory neuropathy.

A 36-year-old man who suffers from gait disturbance is reported. He noticed deformity of his feet at the age of 15. When he was 32 years old, he complained of heaviness in his lower extremities. Since then his legs have been always stiff. He had no previous illness or familial neuromuscular diseases. Neurological examination revealed no impairment of mental function or cranial nerves. Marked weakness and wasting of the feet were noted. The legs showed an inverted champagne bottle shape and pes cavus deformity was evident. Deep tendon reflexes were normal in the arms but abnormally brisk in the legs. Bilateral Babinski sign and ankle clonus were elicited. The patient tended to walk on his toes and the legs scissored. The motor nerve velocities were less than normal. Sural nerve biopsy showed reduced myelinated fiber density and increased endoneurial connective tissue. Electron microscopy showed axonal swellings filled with neurofilaments. Distal wasting and weakness involving the legs more than the arms resembled that of Charcot-Marie-Tooth disease. According to the classification by Dyck, this disorder could be referred to as hereditary motor and sensory neuropathy type V. Spastic paraplegia with amyotrophy is rare, but should be identified as a distinct disorder. Recognition of this disorder would imply the clinical and genetic heterogeneity of Charcot-Marie-Tooth disease.

Adult↗
PubMed1995

Structure and function of peripheral nerve myelin proteins.

(1) Two glycoproteins, P0 and PASII, are widely distributed in the peripheral myelin, but not in the central myelin of mammals. P0-like protein is expressed in both peripheral and central myelins of some lower vertebrates, such as fish and tadpoles. A close relationship is suggested between P0 expression and neural regenerative activity. (2) PMP22 was reported to show high sequence homology, not only to PASII, but also to the growth arrest specific protein. Human PASII/PMP22 sequence was deduced and the locus of its gene, chromosome 17p12-p11.2, is similar to the region linked to Charcot-Marie-Tooth disease type 1A. (3) P0 expressed on cultured cells mediated strong homophilic cell adhesion and neurite outgrowth. Addition of the P0 glycopeptide inhibited cell adhesion markedly, indicating that the oligosaccharide with peptide is essential for P0 mediated cell adhesion. The active site for neurite outgrowth in P0 appears to be different from the adhesion site. (4) We determined the human chromosomal locus of the P0 gene, 1q22-q23, which corresponded to the locus of hereditary motor and sensory neuropathy, Charcot-Marie-Tooth disease type 1B. Point mutations in the extracellular domain of P0 are found in the patient's chromosome. (5) L1 is a large multifunctional adhesive glycoprotein of 200 kD. Rat and human L1 sequences confirmed a common structure for the mammalian nervous systems. An isoform of L1 (L1cs), lacking four amino acids, appears to localize in non-neuronal cells such as Schwann cells, while the complete L1 is exclusively found in neurons. L1cs in Schwann cells may be functionally different from L1 in neurons.

Amino Acid Sequence↗
PubMed1995

An adenoviral vector can transfer lacZ expression into Schwann cells in culture and in sciatic nerve.

Although a number of genetic defects in the P0, peripheral myelin protein-22, and connexin-32 genes recently were shown to cause the demyelinating forms of Charcot-Marie-Tooth disease, there is yet no effective treatment for these patients. Recent studies showed that replication defective adenoviral vectors can efficiently introduce genes into muscle, brain, lung, and other tissues, suggesting that this vector system may be useful for the treatment of a number of genetic diseases. In this work, we demonstrated that a replication deficient adenovirus expressing the Escherichia coli beta-galactosidase gene (AdCMVLacZ) can introduce genes into Schwann cells, in culture as well as in sciatic nerve. Schwann cells cultured at a multiplicity of infection of 250:1 did not demonstrate cytopathic effects. Following injection of AdCMVLacZ into sciatic nerve of rats, lacZ-expressing, myelinating Schwann cells could be detected for at least 45 days. These data suggest that in the future, these vectors may be useful both in perturbing Schwann cell gene expression and in designing therapies for the treatment of Charcot-Marie-Tooth disease.

Adenoviruses, Human↗
PubMed1981

[Peroneal atrophy in Tunisia. Study of 70 cases, pure or associated with other heredodegenerative diseases].

Seventy cases of hereditary peripheral neuropathy of Charcot-Marie-Tooth type have been studied. One group of 40 cases from 30 families had a pure peripheral neuropathy, the other 30 from 20 families having other associated inherited nervous defects. The classification of Dyck and Lambert (1968) modified by Dyck (1975) was used, but it proved difficult to distinguish pure types and transitional forms were common. Histological criteria appeared more reliable than clinical features and were the most constant finding within a given family. In forms associated with other abnormalities a hypertrophic and a neuronal form could be distinguished but similar difficulties in classification were encountered as the mode of genetic transmission, age of onset, clinical features and nerve conduction velocity were comparable in the two groups. Discrepancies between electrophysiological and histological findings may result from examining motor nerves with the former technique and sensory with the latter. Despite subdivision there is still a sharp distinction between the various forms of Charcot-Marie-Tooth disease and the hypertrophic neuropathy of Déjerine-Sottas. The genetic pattern is complicated by the frequent association with other inherited abnormalities.

Charcot-Marie-Tooth Disease↗
PubMed1980

[Biochemical studies on muscles in neurogenic atrophies and central paralysis. Studies of the trophic functions of neurons].

Enzyme activities of the energy supplying metabolism were investigated in muscle specimens of brachial biceps, deltoid or anterior tibial muscles of patients with traumatic nerve lesions, polyneuropathies, Charcot-Marie-Tooth disease, amyotrophic lateral sclerosis, spinal muscular atrophy and hemiparesis. The key enzymes of glycogenolysis (glycogen phosphorylase), glycolysis (triosephosphate dehydrogenase, lactate dehydrogenase), alpha-glycerophosphate cycle (alpha-glycerophosphate dehydrogenase), beta-oxidation of fatty acids (beta-hydroxy-acyl-CoA-dehydrogenase), citrate acid cycle (citrate synthase, malate dehydrogenase), hexokinase reaction (hexokinase) and pentosephosphate shunt (6-phosphogluconate dehydrogenase) were measured. The present study shows that in case of disorders of the lower motor neuron--especially those with impaired axoplasmic transport--changes in the enzyme patterns of muscles occur at an early stage. The glycolytic enzyme activities are of particular significance because they are the most sensitive indicators of the onset, extent and course of neurogenic atrophy. There is a good correlation between severity of the lesion, functional state of the muscles and reduction of these enzyme activities. In case of traumatic nerve lesions re-innervation can prevent a permanent reduction of glycolytic enzymes only if it occurs during the first months after denervation. In all cases in which operative revision is considered, it is therefore not advisible to wait since the regenerative capacity of the motor neuron is not the only limiting factor but also the biochemical and morphological changes in the muscle fibre. These are permanent after long lasting denervation without re-innervation within the first months. Primary neuroaxonal degeneration of the nerve fibre which was found in the majority of our alcoholic patients obviously impairs the metabolism of the muscle to a greater extent than primary demyelination most frequently observed in diabetics with polyneuropathy. Corresponding to the chronic course of the illness over years and to the severity of the pareses, drastic reduction in the activities of glycolytic enzymes was found in patients with Charcot-Marie-Tooth disease. Simultaneously the activity of 6-phosphogluconate dehydrogenase was significantly increased as a result of the chronic neurogenic lesion of the muscle fibres. Follow-up during the treatment of diseases of the lower motor neuron can be performed because the enzyme activities can be measured even in small muscle specimens. In patients with hemiparesis slight but not significant reduction in the glycolytic enzyme activities was found by comparison with a normal control group. We assume that this reduction is due to general inactivity which is caused by the movement disorder rather than to the particular influence of the upper motor neuron.

Denervation↗
PubMed2001

The SOX10 transcription factor: evaluation as a candidate gene for central and peripheral hereditary myelin disorders.

The SOX10 transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). Associated neurological signs have been reported in some cases, including a patient exhibiting a central and peripheral myelin deficiency. Therefore, we screened for SOX10 mutations in a large cohort of patients with peripheral and central myelin disorders. 56 were affected by classical demyelinating Charcot-Marie-Tooth disease without identified mutations in the genes encoding PNS myelin proteins (PMP22, P0), connexin 32 and the zinc-finger transcription factor, EGR2. 88 patients with undetermined leukodystrophy were selected from a large European prospective study. Associated clinical, magnetic resonance imaging and electrophysiological signs were consistent with a defect in CNS myelination in 83 and with an active degeneration of the CNS myelin in 5. No abnormalities in the proteolipid protein gene (PLP) were found. The absence of SOX100 mutation in this large cohort of patients suggests that this gene is not frequently involved in peripheral or central inherited myelin disorders.

Charcot-Marie-Tooth Disease↗
PubMed2006

Cell biology of mitochondrial dynamics.

Mitochondria are the product of an ancient endosymbiotic event between an alpha-proteobacterium and an archael host. An early barrier to overcome in this relationship was the control of the bacterium's proliferation within the host. Undoubtedly, the bacterium (or protomitochondrion) would have used its own cell division apparatus to divide at first and, today a remnant of this system remains in some "ancient" and diverse eukaryotes such as algae and amoebae, the most conserved and widespread of all bacterial division proteins, FtsZ. In many of the eukaryotes that still use FtsZ to constrict the mitochondria from the inside, the mitochondria still resemble bacteria in shape and size. Eukaryotes, however, have a mitochondrial morphology that is often highly fluid, and in their tubular networks of mitochondria, division is clearly complemented by mitochondrial fusion. FtsZ is no longer used by these complex eukaryotes, and may have been replaced by other proteins better suited to sustaining complex mitochondrial networks. Although proteins that divide mitochondria from the inside are just beginning to be characterized in higher eukaryotes, many division proteins are known to act on the outside of the organelle. The most widespread of these are the dynamin-like proteins, which appear to have been recruited very early in the evolution of mitochondria. The essential nature of mitochondria dictates that their loss is intolerable to human cells, and that mutations disrupting mitochondrial division are more likely to be fatal than result in disease. To date, only one disease (Charcot-Marie-Tooth disease 2A) has been mapped to a gene that is required for mitochondrial division, whereas two other diseases can be attributed to mutations in mitochondrial fusion genes. Apart from playing a role in regulating the morphology, which might be important for efficient ATP production, research has indicated that the mitochondrial division and fusion proteins can also be important during apoptosis; mitochondrial fragmentation is an early triggering (and under many stimuli, essential) step in the pathway to cell suicide.

Animals↗