摘要:

AbstractDystrophin cDNAs have been introduced into skeletal muscle fibers of dystrophin‐deficient mice (mdx) through direct DNA injection in plasmid expression vectors and by replication‐defective recombinant adenovirus vectors. The introduced genes appear to protect those muscle fibers from necrosis in which they become expressed. By direct injection of dystrophin cDNA in plasmid expression vector, only 1–2% of adult mdx muscle fibers of the injected muscle expressed dystrophin. On the other hand, by recombinant adenovirus injection into very young mdx muscle, a better efficiency has been reported. We have discussed several putative and proven factors that may contribute to the thus far demonstrated relatively low efficiency of dystrophin gene transfer. These include poor uptake of gene constructs by muscle fibers, degradation of the injected DNA, and poor access of gene constructs to the nuclear compartment. Neutralization or elimination of these factors could improve the efficiency of gene transfer so that it might, in the future, qualify as an effective therapy for DMD and some other genetic diseases of muscle.© 1993 John Wiley&Son

ISSN:0148-639X    

DOI:10.1002/mus.880161102

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractThe facial nerve was stimulated trascranially with a magnetic stimulator in 14 normal controls, 14 hemifacial spasm patients, and 16 post–facialpalsy synkinesis patients. Magnetic stimulation in normal controls revealed muscle responses which had latencies with a mean value of 4.99 ± 0.49 ms and amplitudes of 2.41 ± 1.08 mV. In the same group, transosseal conduction time was calculated to be 1.20 ± 0.13 ms. In the hemifacial spasm group, the amplitudes of the responses on the affected sides were lower as compared to the unaffected sides (mean values 1.78 vs. 2.41 mV,P= 0.01). Also, the threshold to magnetic stimulation was elevated on the affected sides. These findings are suggestive of the presence of a hypoexcitability to magnetic stimulation in the root entry zone. In the post–facial‐palsy synkinesis patients, magnetic stimulation of the affected sides resulted in responses with long latencies and low amplitudes (mean latency 6.34 ms, mean amplitude 0.90 mV). In the recordings made with magnetic stimulation, the difference of the latencies between the two sides was larger as compared to those obtained by electrical stimulation. The transosseal conduction time was also remarkably prolonged on the affected side. These findings may suggest that magnetic stimulation can be an effective method of showing intracranially located lesions of the facial nerve. © 1993 John Wiley&

ISSN:0148-639X    

DOI:10.1002/mus.880161103

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractMolecular analysis of the Duchenne muscular dystrophy (DMD) gene was performed on 4 unrelated patients with Becker muscular dystrophy (BMD) presenting with dilated cardiomyopathy. Two patients with a deletion involving exon 1 were quite unique in that they developed fatal myocardial involvement in their teens, despite the absence of significant muscular weakness. The deletion found in these patients comprised the 3′‐end of exon 1 and the greater part of intron 1. Two other patients with a deletion of exon 47 showed progressive muscular atrophy and weakness; they were considered to be typical BMD in both clinical features and the type of gene deletion. We speculate that a deletion around exon 1 may severely damage the expression and/or the function of dystrophin selectively in cardiac muscle, but not in skeletal muscle. © 1993 John Wiley&Sons,

ISSN:0148-639X    

DOI:10.1002/mus.880161104

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractSeventeen children with pediatric peroneal mononeuropathies evaluated between 1979 and 1991 are reported. Twelve boys and 5 girls, ranging in age from 1.5 months to 17 years, were referred for footdrop in 16 children (94%) or for lower extremity pain in 1 child (6%). Causes included compression in 10 children (59%), trauma in 3 children (18%), entrapment in 3 children (18%), and indeterminate in 1 child (5%). Based on nerve conduction studies and electromyography, the level of the pediatric peroneal mononeuropathic lesion was the common peroneal nerve in 10 children (59%), the deep peroneal nerve in 2 children (12%), and the superficial peroneal nerve in 1 child (5%). In 4 other children (24%), pediatric peroneal mononeuropathy at the knee was not more precisely identified. Surgical exploration in 3 children with progressive pediatric peroneal mononeuropathy was valuable. Improvement occurred in 13 of 17 children (76%). © 1993 John Wiley&Sons, Inc

ISSN:0148-639X    

DOI:10.1002/mus.880161105

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractThere is suggestive but inconclusive evidence for a contribution of T cells and antimyelin antibodies to the pathogenesis of the Guillain–Barré polyneuropathy. We have studied the potential synergism of cellular and humoral immunity in the adoptive transfer model of EAN. EAN was induced in Lewis rats by injecting varying doses of P2peptide (SP26)‐sensitized T lymphocytes. Disease severity was dose‐dependent. The addition of intravenous GC‐AB to a subclinical dose of SP26‐sensitized T cells resulted in overt clinical disease and markedly enhanced demyelination. Intravenous injection of antibody alone had no effect. We conclude that activated neuritogenic T cells, while entering into peripheral nerves, alter the blood‐nerve barrier, which gives circulating demyelinating antibodies access to the endoneurium. The observations support the concept of a synergistic role of T‐cell autoimmunity and humoral responses in the inflammatory demyelination of Lewis rat EAN. © 1993 John

ISSN:0148-639X    

DOI:10.1002/mus.880161106

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractThe aim of this investigation was to define the boundaries of compound motor action potential (CMAP) dispersion, amplitude decay, and area decay in a control population and determine their dependence on external variables such as age and interelectrode distance. Measurements were made from median, ulnar, and common peroneal motor nerves of 110 normal subjects of ages 15–90 years. Significant differences between nerves were found in mean values of each parameter. Dispersion and amplitude decay increased with the square of age in all three nerves, while area decay increased with age in the median nerve. Dispersion was the main cause of amplitude decay. Use of regression equations to predict dispersion and amplitude decay in each nerve significantly tightened confidence limits and should therefore increase the accuracy of these parameters in detecting demyelinating pathology in peripheral nerve. © 1993 John Wiley&Sons, I

ISSN:0148-639X    

DOI:10.1002/mus.880161107

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractWe report 3 cases of isolated deep peroneal nerve injury as a complication of arthroscopic knee surgery. At the level of the knee joint, the deep and superficial peroneal nerves are usually joined as the common peroneal nerve. However, because of the fascicular structure, a partial nerve injury can result in an isolated injury to the deep peroneal nerve fibers. Due to the intraneural topography of the peroneal nerve, electrodiagnostic studies in a partial nerve injury may erroneously indicate a more distal lesion. © 1993 John Wiley&Sons, Inc

ISSN:0148-639X    

DOI:10.1002/mus.880161108

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractThe functional and structural characteristics of the neuromuscular junction were studied in anconeus muscle biopsies of 10 patients with amyotrophic lateral sclerosis (ALS). Intracellular recordings revealed decreased amplitudes of miniature endplate potentials (MEPPs). The MEPP frequencies were highly variable in ALS patients but the average MEPP frequency was not different from that of control patients. The mean quantal content of endplate potentials (m), the mean quanta available for immediate release (n), and the mean quantal stores (N) were all decreased. In contrast, the mean probability of quantal release (p) was normal and the mean probability of quantal store release (P) was surprisingly high at the majority of ALS endplates. Histologic evidence of denervation and small or absent nerve terminals were observed in all ALS patients. These functional and structural abnormalities of the neuromuscular junction may explain the fatigability and the electromyographic evidence of impaired neuromuscular transmission often encountered in ALS patients. © 1993 John Wiley&Sons, Inc

ISSN:0148-639X    

DOI:10.1002/mus.880161109

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractSystemic sclerosis (scleroderma) is thought to be the least likely of the collagen vascular disorders to cause nervous system damage. We evaluated the peripheral neuromuscular manifestations in 32 patients with scleroderma. A clinically defined peripheral nervous system (PNS) lesion was manifest in 5 of 32 patients (16%), including 2 patients with trigeminal neuropathy and single cases of polyneuropathy, brachial plexopathy, and lumbosacral radiculopathy. Neurophysiological studies suggested subclinical PNS involvement in 6 additional patients (3 with distal axonal polyneuropathy, 1 with probable myopathy and superimposed polyneuropathy, 1 with trigeminal neuropathy, and 1 with focal ulnar neuropathy). Even though subjective muscular complaints were numerous (16 patients, 50%), a defined primary muscular disease could be demonstrated only in 5 patients (16%). Our results indicate that peripheral neuropathy in scleroderma is not as uncommon as previously estimated. © 1993 John Wiley&Sons, Inc

ISSN:0148-639X    

DOI:10.1002/mus.880161110

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY

摘要:

AbstractPathologic progression in amyotrophic lateral sclerosis (ALS) results from motor neuron death, while the clinical expression also reflects the compensatory effects of collateral reinnervation consequent to lower motor neuron loss. In a cross‐sectional study of ALS subjects, we made comparisons between motor unit number estimation (MUNE) values and several measures reflecting collateral reinnervation, including isometric strength, compound muscle action potential (CMAP) amplitude, surface motor unit action potential (S‐MUAP) amplitude, fiber density (FD), macro‐EMG potential amplitude, turns‐to‐amplitude (T/A) ratio, and amplitude and recruitment pattern of low threshold voluntary motor units in elbow flexor muscles. Before comparisons were made, testretest reproducibility of these measures was assessed in ALS subjects, and is highest for isometric strength, and lower but similar for EMG measures. When the effects of multiple comparisons are considered, borderline significant correlations are found between MUNE values and isometric strength. Neither MUNE values nor isometric strength are significantly correlated with macro‐EMG amplitude, FD, T/A ratio, or amplitude and recruitment rate of low threshold voluntary motor units. There are significant correlations of CMAP and S‐MUAP with MUNE values, but these are statistical artifacts with no independent interpretation. We conclude that collateral reinnervation prevents isometric strength and EMG measures from accurately reflecting lower motor neuron death in ALS. MUNE measurements are better suited to provide insight into the true natural history of the disease process and may be clinically useful to follow progression and response in drug trials. © 1993 John W

ISSN:0148-639X    

DOI:10.1002/mus.880161111

出版商:Wiley Subscription Services, Inc., A Wiley Company    

年代:1993

数据来源: WILEY