bluuebunny/crossref_metadata_2025 huggingface dataset:
Essential tongue tremor
Authors: Biary Nabil , Koller William C.
Published: January 2005

Twenty patients with tongue tremor associated with essential tremor are reported. Patients were unaware of the tongue tremor, and voice disturbance was a complaint in only one patient. Three patients had an isolated tongue tremor. Hand tremor was present in 16 patients. Dystonia, myoclonus, and tremor of other body parts were present in some patients. Three patients had a mild‐to‐moderate dysarthria. The frequency of tongue tremor (4–8 Hz) was identical to hand tremor. The intravenous infusion of ethanol suppressed tongue tremor. Therapy with propranolol, primidone, or clonazepam also reduced tongue tremor amplitude. Tongue tremor is a common finding in some essential tremor patients but often there are no symptoms.
Young onset Parkinson's disease
Authors: Quinn Niall , Critchley Peter , Marsden C. David
Published: January 2005

We describe a personal series of 60 cases of parkinsonism with onset under the age of 40 years. Known causes for early onset of secondary parkinsonism, such as Wilson's disease or encephalitis, were excluded in every case. Two groups were identified: those with onset after the age of 21 in whom no hereditary factors could be ascertained (56 cases), and those with onset before 21 years all of whom had familial parkinsonism. In neither group have we found any association with prematurely grey hair, hypertension, diabetes, pernicious anaemia, or thyroid disorder. Among their families, we have not found any association with diabetes, pernicious anaemia, or thyroid disorder. We propose that cases of apparent idiopathic Parkinson's disease begining between age 21–40 years should be called “young onset Parkinson's disease.” Twenty percent of such patients in our series had at least one first‐ or second‐degree relative in the same or antecedent generations with parkinsonism, but only 1.5% of their relatives at risk had parkinsonism, which is similar to the prevalence in the general population. Ten percent of these patients had at least one relative with essential tremor, but only 1.6% of their relatives at risk had tremor, which again was similar to the prevalence in the population in general. These patients with young onset Parkinson's disease responded well to levodopa therapy. However, dyskinesias and response fluctuations occurred early and frequently. The prevalence of dyskinesias and response fluctuations was strongly correlated with the duration of levodopa treatment, but not with the duration (or probably the severity) of the disease before levodopa therapy was commenced. The involuntary movements often were severe and frequently were diphasic. Despite long disease duration, the incidence of dementia in young onset patients aged less than 65 years was negligible. We believe that most, if not all, patients in this group have degenerative Lewy body idiopathic Parkinson's disease, representing the lower end of a skewed deviation for age of onset of this disease. We have so far failed to identify any additional environmental factor which may have accelerated disease onset in these patients. In contrast, cases of parkinsonism beginning before age 21 years were invariably familial. We proposed that they should be called “juvenile parkinsonism.” All affected relatives with parkinsonism also had young disease onset, and all but one were siblings. None of four such patients seen by us has demented, and computed tomography (CT) scan has been normal in all four. We believe that most such patients have some form of genetically determined secondary parkinsonism.
A new syndrome of axial muscle rigidity associated with etretinate therapy
Authors: Albin Roger L. , Silverman Alan K. , Ellis Charles N. , Voorhees John J. , Albers James W.
Published: January 2005

We report on three cases of a novel syndrome associated with treatment for psoriasis with the retinoid etretinate. The distinctive features of this syndrome include rigidity that is restricted to the axial muscles, impairment of neck extension greater than flexion, impairment of anteflexion at the waist, severe impairment of lateral flexion at both the waist and the neck, and, in one case, rigidity of proximal lower extremity muscles. Peripheral nerve block extinguished the lower extremity rigidity in one patient, and two patients had a favorable response to Sinemet. One patient had persistence of symptoms and findings 2 years after discontinuation of etretinate. The clinical features of this syndrome are consistent with an effect of etretinate on central, possible catecholaminergic neurons.
The relationship of serotonin to depression in Parkinson's disease
Authors: Mayeux Richard , Stern Yaakov , Sano Mary , Williams Janet B. W. , Cote Lucien J.
Published: January 2005

We have previously reported a correlation between depression in patients with idiopathic Parkinson's disease and decreased concentrations of the cerebrospinal fluid content of the serotonin metabolite, 5‐HIAA. To further examine this relationship, we repeated the study in a new cohort of patients while they remained on dopaminergic medications, conducted follow‐up interviews and examinations in our original cohort, and conducted an open trial of the serotonin precursor, 5‐hydroxytryptophan in a group of new patients with depression. We were again able to demonstrate a significant reduction in cerebrospinal 5‐HIAA in depressed patients in comparison to controls and patients without depression. Demented patients with Parkinson's disease, particularly those with concurrent depression, had the lowest values of 5‐HIAA. No new cases of depression occurred in our orignial cohort after 21/2 years of follow‐up, and depression remitted following conventional or experimental treatment in four patients. Depression improved in six of the seven new patients following oral 5‐hydroxytryptophan. Three of these patients allowed a repeat lumbar puncture, and the concentration of 5‐HIAA increased following 5‐hydroxytryptophan. These three studies support our hypothesis that depression in idiopathic Parkinson's disease is associated with a reduction in brain serotonin. However, it also suggests that other factors, biological or environmental, may be causal factors.
Tardive dystonia in patients with Tourette's syndrome
Authors: Singh Sanjay K. , Jankovic Joseph
Published: January 2005

We describe two patients with Gilles de la Tourette's syndrome (TS) who developed tardive dystonia after treatment with neuroleptics. The dystonic movements persisted after the offending drugs were stopped and improved with tetrabenazine. Tardive dystonia in TS has not been documented previously.
Tardive akathisia: An analysis of clinical features and response to open therapeutic trials
Authors: Burke Robert E. , Kang Un Jung , Jankovic Joseph , Miller Lucinda G. , Fahn Stanley
Published: January 2005

In recent years, there has been increasing recognition that akathisia occurs not only as an acute, self‐limited complication of dopamine (DA) antagonist treatment, but also as a persistent form, called tardive akathisia. We present a retrospective analysis of clinical features and therapeutic trials in 52 cases of this disorder. Although most patients developed this disorder after years of DA antagonist treatment (mean = 4.5 years), a significant proportion (34%) developed it within 1 year. The characteristic motor features included frequent, complex stereotyped movements. The legs were most frequently involved, showing marching in place and crossing/uncrossing. Trunk rocking, respiratory grunting and moaning, and complex hand movements such as face rubbing or scratching also occurred. In the 26 patients who were able to discontinue DA antagonists, akathisia persisted for years (mean = 2.7 years, range of 0.3–7 years) until abatement of symptoms or last follow‐up. Younger patients were more likely to have remission or therapeutic suppression of akathisia at follow‐up. In our experience, the catecholamine‐depleting drugs reserpine and tetrabenazine were the most effective agents for suppressing symptoms, producing improvement in 87 and 58% of patients treated, respectively. However, improvement was limited in many patients, and at last follow‐up only 33% of patients had complete abatement of their symptoms. In conclusion, tardive akathisia is a particularly disabling form of tardive dyskinesia, frequently persistent for years and often resistant to therapy.
Hemiballismus: Study of a case using positron emission tomography with 18f1uoro‐2‐deoxyg1ucose
Authors: Dubinsky Richard M. , Baker Michael , Hallett Mark , Greenberg Michael , di Chiro Giovanni
Published: January 2005

A 64‐year‐old man had right‐sided persistent hemiballismus. Cerebral computed tomography (CT) and 0.5‐T magnetic resonance imaging (MRI) showed no abnormalities, but 1.5‐T MRI showed decreased signal intensity of the putamina, greater on the left than on the right. The subthalamic area was normal on CT and MRI. Positron emission tomography with 18fluoro‐ 2‐deoxyglucose showed marked hypometabolism of the left putamen (60% of the right) and hypermetabolism of the left parietal lobe (138% of the right). The decreased metabolism of the left putamen may indicate a reduction in neuronal firing. The pathophysiology of the hemiballismus in this case may be loss of tonic inhibition of the lateral globus pallidus from the putamen, leading in turn to greater inhibition of the subthalamic nucleus, less excitation of the medial globus pallidus, and less inhibition of the thalamus and motor cortex, and thus allowing expression of the ballistic movements. allowing expression of the ballistic movements.
Ataxia telangiectasia: A reappraisal of the ocular motor features and their value in the diagnosis of atypical cases
Authors: Stell R. , Bronstein A. M. , Plant G. T. , Harding A. E.
Published: January 2005

The eye movements of four patients with ataxia telangiectasia (AT), three of whom had an unusual neurological presentation, were studied. All had striking abnormalities of saccadic generation with markedly hypometric saccades, increased saccadic latency, but normal saccadic velocity. Three patients used head thrusts to aid refixation. In addition, there was absence of smooth pursuit and optokinetic nystagmus, and hyperactive vestibular responses. Two of the four patients had, in addition, periodic alternating nystagmus. This combination of an ocular motor apraxia with superadded cerebellar ocular motor abnormalities, and possibly periodic alternating nystagmus, should strongly suggest the diagnosis of AT, even if the clinical syndrome is otherwise atypical.
Betel nut‐induced extrapyramidal syndrome: An unusual drug interaction
Authors: Deahl Martin
Published: January 2005

Two cases are described of chronic schizophrenic patients maintained on depot neuroleptics, who developed severe extrapyramidal symptoms following a period of heavy betel nut consumption. A mechanism for this effect is proposed based on the pharmacological antagonism of the anticholinergic agent, procyclidine, by the active alkaloid ingredient of the betel, arecoline.
The effect of nocturnal physiological sleep on various movement disorders
Authors: Silvestri Rosalia , De Domenico Pietro , Di Rosa Antonio E. , Bramanti Placido , Serra Salvatore , Di Perri Raoul
Published: January 2005

Thirty‐one subjects affected by different movement disorders underwent polygraphic and videotape monitoring during nocturnal sleep, to assess movement patterns during the night. It was possible to distinguish two categories of disorders according to their pattern of movements. In the largest group (Meige's syndrome, blepharospasm, amyotrophic choreoacanthocytosis, Tourette syndrome, tonic foot, hemiballism) abnormal movements were still present during sleep, but decreased in frequency and amplitude in all stages. The second group presented three syndromes (nocturnal paroxysmal dystonia, nocturnal myoclonus, restless legs syndrome), in which light nonrapid‐eye‐movement sleep induced a strong activation of abnormal movements, whereas rapid‐eye‐movement sleep suppressed them.
Paralysis agitans and levodopa in “Ayurveda”: Ancient Indian medical treatise
Authors: Manyam Bala V.
Published: January 2005

Neurologic diseases (Vata rogas, Sanskrit) and the pharmacologic treatment of them were described in the ancient Indian medical system—Ayurveda. This article explores paralysis agitans, which was described under the name Kampavata. Mucuna pruriens (Atmagupta, Sanskrit), which contains levodopa, was used in the treatment of Kampavata. Existence of paralysis agitans prior to the industrial revolution is not just of historical interest, but would also suggest that under the hypothesis of exposure to environmental toxins as a possible cause of paralysis agitans, natural organic compounds with worldwide distribution should also be considered.
A clinical and genetic study of familial Parkinson's disease
Authors: Maraganore D. M. , Harding A. E. , Marsden C. D.
Published: January 2005

The clinical features of familial Parkinson's disease (PD) were investigated by examining the families of 20 British probands who were selected on the basis of having clinically typical PD and at least one affected relative. Forty‐nine secondary cases were identified. These subjects were clinically indistinguishable from sporadic cases of idiopathic PD. If it is assumed that familial PD has a genetic basis, pedigree and segregation analysis suggested autosomal dominant inheritance of a gene or genes with reduced penetrance as the most likely explanation. The data did not support the possibilities of either mitochondrial or polygenic inheritance, although the latter cannot be excluded. The role of genetic factors in sporadic cases of PD remains unclear.
Combined resting–postural tremor of the head with a changing axis
Authors: Rapoport Abraham , Braun Hava , Aviv Alex , Sarova Ida
Published: January 2005

When essential tremor involves the head, it produces a rhythmic, periodic movement with a certain fixed frequency and a variable amplitude. The axis of the tremor has been described as either horizontal (no‐no) or vertical (yes‐yes) and is present when the head is in an action or postural position. Seven patients who differ in symptoms are described; one subgroup exhibited a combined resting‐postural head tremor with a changing axis.
Machado‐Joseph disease: An autosomal dominant motor system degeneration
Authors: Rosenberg Roger N.
Published: January 2005

Machado‐Joseph disease is an autosomal dominant spinocerebellar degeneration. It expresses itself clinically with variable expression. Type one patients have early onset with a rapid progression of symptoms including spasticity, rigidity and myokymia. Type two patients are the most common phenotype with ataxia and spasticity. Type three patients develop progressive ataxia with variable amyotrophy. All patients have ophthalmoparesis and normal mental status. The neuropathology consists of neuronal loss and gliosis in the substantia nigra, motor cranial nuclei, dentate nucleus of the cerebellum, and variable neuronal loss with gliosis in the cerebellar cortex and neostriatum. The cerebral cortex is normal histologically. The inferior olivary nuclei are normal, thus separating this disease from olivopontocerebellar atrophy (OPCA). The disease has a worldwide distribution including families described in Portugal, the Azores, Spain, Italy, United States, Canada, Brazil, China, Taiwan, and Japan. The gene has not been mapped for this disease but the locus on chromosome 6p mapped for most families with OPCA has been excluded for this disorder.
Effect of aging and dopaminomimetic therapy on mitochondrial respiratory function in Parkinson's disease
Authors: Bravi Daniele , Anderson Jeffrey J. , Dagani Fiorenzo , Davis Thomas L. , Ferrari Rosaria , Gillespie Marge , Chase Thomas N.
Published: January 2005

Oxygen consumption and enzyme activity were evaluted in platelet mitochondria from 17 patients with Parkinson's disease. In comparison with age‐matched controls, no consistent abnormality could be discerned in complex I, complex II‐III, or complex IV oxygen consumption, or in the enzyme activity of these respiratory chain complexes. Neither chronic therapy with levodopa/carbidopa alone nor in combination with deprenyl significantly affected any measure of mitochondrial respiratory function. There was no discernible relationship between patient age or disease severity and any parameter of mitochondrial respiration. Moreover, blood lactate levels following glucose loading were not different in patients and controls. These results fail to support the occurrence of a generalized defect in any mitochondrial respiratory function in Parkinson's disease.
Muscle trophic factor: I. Assay of a muscle trophic factor by measurement of muscle cell nuclei
Authors: Ozawa Eijiro , Kohama Kazuhiro
Published: January 2005

A method for assaying a skeletal muscle cell trophic factor in chicken serum is described. The number of myoblast and myotube nuclei was considered to reflect the rate of myoblast multiplication and was thus adopted as an index for the activity of the trophic factor. In a 35‐mm Falcon plastic Petri dish, 2.5 × 104 to 105 myoblasts were cultured. The culture medium consisted of 85% Eagle's minimum essential medium and 15% horse serum. The assay medium was composed of 2.4 ml of this culture medium and 0.1 ml of partially purified trophic factor of appropriately diluted chicken serum. Four dishes were prepared for each sample under identical conditions. On day 4 of incubation, cells were fixed, stained, and observed under a microscope, and the number of nuclei in 20 fields was counted. The mean number of nuclei obtained from the four dishes was used to denote a single point. A three‐point common‐zero method of slope‐ratio assay was used to calculate activity. The activity of the trophic factor was expressed with reference to the effect of the control serum on myoblast multiplication.
Muscle trophic factor: III. Effect of hormones and tissue extracts on muscle trophic‐factor activity
Authors: Ozawa Eijiro , Kohama Kazuhiro
Published: January 2005

The ability of classical hormones or extract from adult chicken tissues to replace or influence the activity of chicken skeletal muscle cell trophic factor was investigated. Pituitary gland extract did not replace the trophic factor in a range equivalent to the serum concentrations of somatotropin, although high concentrations of such extract showed a significant ability to mimic trophic‐factor activity. Insulin, triiodothyronine, testosterone, dihydrotestosterone (Stanolone), and estradiol did not show any ability to mimic trophic‐factor activity. Both pituitary extract and insulin showed a potentiating effect on the trophic factor when added to the medium; however, the concentrations necessary for this effect were too high to be considered physiologic. Triiodothyronine, testosterone, Stanolone, and estradiol did not potentiate the trophic factor; indeed, at higher concentrations, these hormones actually suppressed the activity of the trophic factor. Every tissue extract examined showed, to a greater or lesser extent, the ability to potentiate the trophic factor.
Muscle trophic factor: IV. Testosterone‐induced increase in muscle trophic factor in chicken serum
Authors: Kohama Kazuhiro , Ozawa Eijiro
Published: January 2005

Repeated injections of testosterone into hens and roosters gave rise to a reversible increase in the activity of muscle cell trophic factor in serum.
Peripheral nerve responses during ischemia in the evaluation of diabetic neuropathy
Authors: Horowitz Steven H. , Ginsberg‐Fellner Fredda
Published: January 2005

The stability of sensory conduction and evoked potentials during ischemia has been used in the evaluation of diabetic neuropathy and diabetic control (Hgb A1C). Six newly diagnosed juvenile diabetics were studied at diagnosis and 3 to 12 months later. In three patients in good control, ischemic “resistance” became normal. In three patients in poor control, resistance remained increased; two of these three experienced a 10%–20% slowing in conduction velocity. Similar relationships between control and ischemic resistance are found in long‐term diabetics. These data suggest that abnormal ischemic resistance may herald the onset of an electrical and clinical neuropathic state.
Myopathies with abnormal mitochondria: A clinicopathologic classification
Authors: Kamieniecka Zofia , Schmalbruch Henning
Published: January 2005

Of 185 patients with myopathy, 22 showed abnormal muscle mitochondria. In 12 of the 22 patients, all of whom had ocular myopathy or the ophthalmoplegia‐plus syndrome, muscle biopsies contained 5%–25% “ragged red” fibers. In 4 patients with a facioscapulohumeral distribution of weakness, ragged red fibers were less numerous (3%–8%). In both groups, routine histology showed almost normal muscle. The remaining 6 patients were clinically heterogeneous, all without ptosis or ophthalmoplegia. The biopsies of three of these patients showed severely affected muscle. It is possible that mitochondrial changes in these muscles were nonspecific. Electromyography indicated or suggested a myogenic lesion in 21 of the 22 patients; in 10, the serum creatine kinase was increased.
The regional curare test and electrophysiologic diagnosis of myasthenia gravis: Further studies
Authors: Horowitz Steven H. , Sivak Mark
Published: January 2005

Five hundred consecutive patients were evaluated for myasthenia gravis with repetitive stimulation of the median and ulnar nerves. Axillary nerve stimulation and repeated stimulation of wrist nerves following regional curare administration to the hand were performed when necessary. Abnormal responses were seen in 95% of 297 patients with generalized disease and in 35% of 54 patients with ocular disease, all of whom were clinically responsive to anticholinesterases. Identical responses were also seen in 32% of 124 patients with possible generalized disease, all of whom lacked clinical responsiveness to anticholinesterases. Abnormalities occurred following regional curare administration in 29% of 224 patients with normal responses during repetitive stimulation alone. This program for evaluating patients with suspected myasthenia gravis continues to be successful, safe, and practical.
A clinical review
Authors: Siegel Irwin M.
Published: January 2005

The optimal management of muscular dystrophy is multidisciplinary and aggressive in nature. Serial assessment aids in determining the functional stage of the disease and in indicating specific therapies. Physical therapy can augment strength through exercise and relieve contracture through passive stretching. Occupational therapy is employed to help the patient manage his activities of daily living within the restrictions imposed on him by his disease. Progressive disability can be delayed through a variety of physiatric and orthopedic techniques, including surgical release of lower‐extremity contracture, repair of foot and ankle deformity, and correction of scoliosis. Appropriate orthoses are available, as are a variety of special devices to facilitate ongoing care for postambulatory patients. Physicians treating the muscular dystrophies should be aware of the complications of these diseases, particularly cardiomyopathy, pulmonary failure, and psychological and social problems.
Morphology and physiology of skeletal muscle in aging rodents
Authors: Caccia Mario R. , Harris John B. , Johnson Margaret A.
Published: January 2005

Aging in the rodent is accompanied by a progressive loss of skeletal muscle fibers. The muscle twitch also becomes slower, probably as a result of fibertype conversion from “fast‐twitch” to “slow‐twitch.” The loss of muscle fibers precedes signs of obvious weakness and appears to involve the loss of entire functioning motor units. In the mouse, this loss of motor units correlates with a loss of axons from the innervating nerve trunks.
Protein synthesis in skeletal muscle following acute exhaustive exercise
Authors: Rogers Peter A. , Jones George H. , Faulkner John A.
Published: January 2005

Cell‐free and whole‐tissue protein synthesis was studied in skeletal muscle of untrained male guinea pigs that had undergone a treadmill run to exhaustion. Experiments using explants from the gastrocnemius muscle maintained in organ culture demonstrated that the ability of the acutely exercised muscle to incorporate amino acids into protein had increased. Compared to polyribosomes prepared from several lower hind limb muscles of nonexercised guinea pigs, polyribosomes from the same muscle in exhausted guinea pigs had incorporated almost 50% more radioactive leucine into protein. However, the polysome profiles of control and exercised muscle were identical, and no difference in the total polysome RNA content could be detected. The efficiency of in‐vitro protein synthesis using washed membrane‐bound polyribosomes (microsomes) isolated from acutely exercised skeletal muscle was 50% greater than with microsomes from rested control muscle.
Application of lectin cytochemistry to the study of human neuromuscular disease
Authors: Bonilla Eduardo , Schotland Donald L. , Wakayama Yoshihiro
Published: January 2005

This is a review of the application of cell surface cytochemistry to the study of human neuromuscular disease. The advantages and limitations of the use of lectins coupled to peroxidase are discussed, and the application of this technique is illustrated by a study of the surface of muscle cells in Duchenne muscular dystrophy and polymyositis.
Red blood cell alterations in muscular dystrophy: The role of lipids
Authors: Plishker Gordon A. , Appel Stanley H.
Published: January 2005

Biochemical, morphologic, and biophysical studies support the concept that the red blood cell (RBC) membrane is altered in both myotonic muscular dystrophy (MyD) and Duchenne muscular dystrophy (DMD). These studies have not identified a primary metabolic defect that would explain the various alterations of membrane properties. Since the lipid milieu of the membrane affects most membrane properties, it has been extensively investigated in MyD and DMD. Although some studies have suggested specific lipid abnormalities, no reproducible alterations have been reported in the major lipid constituents of the RBC membrane in these disorders. These findings suggest that major alterations of the predominant membrane lipids are not involved in these diseases. Furthermore, studies of the RBC membrane do not provide definitive statements as to the inborn error of metabolism, whether proteins or lipid constituents are primarily affected, or even whether the described alterations are intrinsic to the membrane or are secondary to some circulating factors. Nevertheless, RBCs have proved useful in demonstrating the involvement of the plasma membrane in muscle disorders and should be important in defining how such membrane perturbations affect transport mechanisms.
Some factors affecting spontaneous transmitter release in dystrophic mice
Authors: Shalton Penny M. , Wareham Anthony C.
Published: January 2005

Neuromuscular junctions of slow‐ and fast‐twitch skeletal muscles from dystrophic (dy2J/dy2J) and control mice of the C57BL/6J strain were used to investigate the effect of muscular dystrophy on nerve‐terminal regulation of their intracellular concentration of free calcium ions. The frequency of spontaneous miniature endplate potentials (MEPPs) was taken as an indicator of the intraterminal free calcium ion concentration. Dicoumarol, 2,4‐dinitrophenol, ruthenium red, and the calcium ionophore A‐23187 all potentiated the MEPP frequency in dystrophic muscles at concentrations which had negligible effects on normal muscles. Dystrophic muscle preparations were also more sensitive to an increased extracellular calcium concentration. Usually, these manipulations had more effect on the nerve terminals of dystrophic slow muscle than on those of dystrophic fast muscle. We conclude that muscular dystrophy alters the nerve terminal's ability to regulate the concentration of intracellular free calcium ions.
Glycogen cycle enzymes and cyclic nucleotides in avian muscular dystrophy
Authors: Schliselfeld Louis H. , Anderson Daryl M.
Published: January 2005

Fast‐frozen pectoralis muscle samples were taken from normal chickens (lines 200 and 412) and chickens having hereditary muscular dystrophy (line 304). The glycogen phosphorylase activity ratio (activity without AMP/activity with AMP) was significantly greater in dystrophic muscles (0.306 ± 0.046) than it was in normal muscles (0.090 ± 0.023). Glucagon treatment did not cause any changes in phosphorylase activity ratios. Isoproterenol treatment of both normal and dystrophic muscles raised the phosphorylase activity ratio of normal muscles to 0.446 ± 0.054, which was not significantly different from that of the dystrophic muscles. The dystrophic muscles had significantly less glycogen than normal muscles (23.3 ± 2.8 compared with 36.8 ± 2.8 μmoles glucosyl units/g of muscle). There was no relationship of muscular dystrophy to total phosphorylase activity (measured in the presence of 1 mM AMP) and to glycogen synthase activities measured without and with glucose 6‐phosphate. Normal muscles had 28% less cAMP and 49% less cGMP than dystrophic muscles, but these differences were eliminated by treatment of the chickens with glucagon.
Perineurioma as the cause of localized hypertrophic neuropathy
Authors: Mitsumoto Hiroshi , Wilbourn Asa J. , Goren Hershel
Published: January 2005

Clinical, electrodiagnostic, and morphological studies were performed on three patients with localized hypertrophic neuropathy (LHN). LHN is characterized clinically by slowly progressive motor mononeuropathy without significant pain or numbness. Nerve conduction studies and needle electrode examination show severe focal motor and sensory axonal loss. Morphological findings in the localized areas of enlarged nerves are different from those of generalized hypertrophic neuropathy, entrapment neuropathy, and neurofibroma, and consist of primary perineurial cell hyperplasia. The tumor is thus a perineurioma. This rare tumor can occur both in generalized neurofibromatosis and in isolated form and appears to be the cause of localized hypertrophic neuropathy.
Surface labeling studies of normal and dystrophic myogenic cells in culture
Authors: Schimmel Steven D. , Goff Richard
Published: January 2005

Surface protein topographies of cultured normal and genetically dystrophic embryonic chick breast muscle cells and fibroblasts were compared by external labeling and size distribution analysis by sodium dodecyl sulfate‐polyacrylamide gradient slab gel electrophoresis. Four labeling techniques were evaluated and all were found to be specific for the cell surface. Using radioiodination of tyrosine residues and periodateborotritide labeling of sialic acid residues, no reproducible abnormalities could be detected in any of the dystrophic cell types—fibroblasts, fusion‐inhibited differentiated myoblasts, and multinucleated differentiated myotubes. However, comparison of 3‐day‐old cultures of normal fusion‐inhibited differentiated myoblasts with fused myotubes revealed that increased iodination of protein classes with nominal molecular weights of 230,000 and 88,000 was evident in the myoblasts. In addition, large structural differences were detected between differentiated myoblasts and myogenic cells grown in the presence of phorbol 12‐myristate 13‐acetate, a potent tumor promoter and reversible inhibitor of myogenic differentiation.
Spinal transection and the postnatal differentiation of slow myosin isoenzymes
Authors: Margreth A. , Libera L. Dalla , Salviati G. , Ischia N.
Published: January 2005

Newborn rats underwent cordotomy, and the myosin composition of individual muscles was investigated 3 months postoperatively. The results indicate that, after cordotomy, the myosin composition in the extensor digitorum longus and tibialis anterior muscles is normal, whereas in the soleus muscle the myosin has catalytic and molecular properties intermediate between those of adult fast and slow myosin. Together with histochemical data these results indicate that spinal transection causes a developmental arrest in the soleus muscle, at a stage corresponding to a mixed fiber population.
Duchenne muscular dystrophy: Unusual activation of single fibers in vitro
Authors: Takagi Akio , Nonaka Ikuya
Published: January 2005

Single skinned fibers were prepared from muscle biopsies of patients with Duchenne muscular dystrophy (DMD) and other neuromuscular diseases. The activation of the contractile system by calcium or strontium ion and the function of the sarcoplasmic reticulum were studied. In many fibers of the biopsy specimens from patients with DMD, activation by strontium revealed a pattern intermediate between those shown by the usual type 1 and type 2 fibers. These fibers were generally of smaller diameter and produced less maximal tension than type 1 and 2 fibers. The study of muscle of newborn animals suggests that this unusual pattern of activation might reflect either arrested development or incomplete regeneration after muscle necrosis in the disease.
Supernormal excitability of human sensory fibers after ischemia
Authors: Stöhr M. , Gilliatt R. W. , Willison R. G.
Published: January 2005

Weak electrical stimuli were applied to sensory fibers of the median nerve at the wrist, and the ascending action potentials were recorded at the elbow. This was done with or without a preceding conditioning stimulus to test for supernormal excitability to the second stimulus. In the resting nerve, supernormal excitability was present from 3 to 20 msec after a conditioning shock. After a period of ischemia, excitability was both exaggerated and prolonged. this observation confirms the presence in sensory fibers of a phenomenon previously described in motor fibers.
The role of proteases in experimental glucocorticoid myopathy
Authors: Clark Abbot F. , Vignos Paul J.
Published: January 2005

Mature, male, New Zealand white rabbits were treated with the synthetic glucocorticoid betamethasone (0.3 mg/kg body weight/day) for 2 weeks. The glucocorticoid treatment caused a 30% decrease in muscle weight of the type 2 psoas muscle, but had no apparent effect on the type 1 soleus muscle. Cathepsin D activity was elevated twofold in the psoas muscle of treated rabbits, a finding suggesting an active role for lysosomes in mediating muscle breakdown in glucocorticoid‐induced myopathy of the rabbit. There was no detectable alkaline serine protease activity in the muscles from either treated or control rabbits. Alkaline protease is localized in mast cells in some species, particularly the rat. Toluidine blue staining for mast cells was absent in rabbit muscles, a finding indicating that this species does not contain these cells. This protease, previously implicated in glucocorticoid myopathy, apparently plays no role in rabbit myopathy. There was no detectable elevation of the Ca‐activated protease in muscles from glucocorticoid‐treated animals. This finding suggests that if this protease plays a role in muscle degradation, its activity is controlled in vivo by special conditions (such as elevated CA levels, inhibitors, and compartmentalizations).
Congenital myasthenia: End‐plate acetylcholine receptors and electrophysiology in five cases
Authors: Vincent A. , Cull‐Candy S. G. , Newsom‐Davis J. , Trautmann A. , Molenaar P. C. , Polak R. L.
Published: January 2005

The nature of the defect in congenital myasthenia was investigated in biopsy specimens of intercostal muscle from 5 male patients whose symptoms presented between birth and 2 years of age. Miniature end‐plate potentials were reduced in amplitude in all 5 patients. The number of acetylcholine receptors as determined by α‐bungarotoxin binding was normal in case 1 and reduced in cases 2, 4, and 5. The shape of the endplates as shown by autoradiography and cholinesterase staining was normal in case 1 and elongated in cases 2, 4, and 5. In case 3, α‐bungarotoxin binding was slowly reversible, and there were some muscle fibers with multiple end‐plate regions. The acetylcholine content of the muscle was normal in all 5 cases. None of the patients had serum antibody to human acetylcholine receptor as measured by immunoprecipitation or inhibition of α‐bungarotoxin binding. We conclude that congenital myasthenia is a heterogeneous condition of nonimmune etiology in which both presynaptic and postsynaptic defects can be found.
Tellurium‐induced myelinopathy in adult rats
Authors: Said Gérard , Duckett Serge
Published: January 2005

Tellurium is known to induce a neuropathy in young rats but not in adult rats. In the present study adult rats were fed a diet containing 1.25% tellurium every day for 30 days. By the end of this period, the rats moved with difficulty but did not show paralysis. Study of teased nerve fiber preparations in conjunction with light and electron microscopy revealed myelin abnormalities consisting of myelin bubbling, segmental demyelination, and remyelination. In some animals, these abnormalities had a patchy distribution, affecting several adjoining nerve fibers in sciatic nerves, brachial plexus, and spinal roots. The intramyelinic edema sometimes was associated with splitting of the axons.
The significance of type 2C muscle fibers in duchenne muscular dystrophy
Authors: Nonaka Ikuya , Takagi Akio , Sugita Hideo
Published: January 2005

Undifferentiated type 2C fibers, which are dark on ATPase staining with both alkaline and acid preincubation, comprised on average 16.1% of the muscle fibers in 12 patients with Duchenne muscular dystrophy (DMD). Many of type 2C fibers had characteristics of regenerating fibers: basophilic cytoplasm, vesicular nuclei with occasional prominent nucleoli, high alkaline phosphatase and nonspecific esterase activity, and also high oxidative enzyme activity at the periphery of the fiber. A localized high acetylcholinesterase activity suggested the presence of a neuromuscular junction in some of the type 2C fibers. In serial sections, histochemical reactions characteristic of the type 2C fiber were present in segments of a single fiber, which in other parts was either a type 1 or a type 2 fiber. Since most of the opaque (hyaline, dark) fibers, which previously have been thought to be precursors of necrotic fibers, behaved as differentiated type 1 or type 2 fibers, the presence of type 2C fibers in DMD may not reflect “dedifferentiation” of fiber type, but rather indicate an active regenerating process. It remains unknown whether the type 2C fiber segments in DMD develop into fully differentiated functional fibers or remain as incompletely regenerated fibers.
Chronic tetanus: Clinical report and histochemistry of muscle
Authors: Risk Winthrop S. , Bosch E. Peter , Kimura Jun , Cancilla Pasquale A. , Fischbeck Kenneth H. , Layzer Robert B.
Published: January 2005

A patient who was partially immune to tetanus developed nonfulminant tetanus after a minor injury. Manifestations of the disease persisted for over 17 months. Electrophysiologic studies revealed an absent silent period in the masseter muscle, large‐amplitude F‐responses, and denervation. A muscle biopsy showed neurogenic atrophy with reinnervation. This observation supports the existence of chronic tetanus and provides morphologic evidence for a peripheral action of tetanus toxin in humans.
Vital‐freezing of human muscle cultures for storage and reculture
Authors: Carter Linda S. , Askanas Valerie
Published: January 2005

The vital‐freezing of human muscle cultures enabling long‐term storage in liquid nitrogen and future reculturing is described. Although human muscle is more fastidious in tissue culture than most cells of other origin, it was successfully frozen and re‐established in culture. Cultures re‐established after storage in liquid nitrogen differentiated and matured in the same way as primary human muscle cultures, and had the same histochemical and electron microsopic characteristics.
In vivo morphometric analysis of muscle microcirculation in dystrophic mice
Authors: Burch Thomas G. , Prewitt Russell L. , Law Peter K.
Published: January 2005

In order to test the vascular hypothesis of muscular dystrophy, the gracilis muscle in 6hyphen; to 7hyphen;weekhyphen;old C57BL/6Jhyphen;dy2J normal and dystrophic mice was studied using in vivo quantitative morphometric techniques to determine the total length and surface area of capillaries in which blood was flowing per unit volume of muscle. Individual capillary lengths, diameters, and red blood cell velocities were also quantified. During resting conditions, the capillary density (length per unit volume of muscle) and surface area are increased significantly in dystrophic muscle compared to normal muscle. Under fully vasodilated conditions, the capillary density and surface area are similar in normal and dystrophic muscle. Individual capillary lengths, diameters, and red blood cell velocities are also similar in normal and dystrophic muscle under resting conditions. These results indicate that, contrary to the vascular hypothesis, dystrophic muscle at rest has increased capillary density, surface area, and blood flow. It is postulated that the increased capillary density in dystrophic muscle at rest is secondary to muscle fiber breakdown.
Protonmotive force in muscle mitochondria
Authors: Stumpf David A. , Haas Richard , Eguren Luis A. , Parks Janice K. , Eilert Robert E.
Published: January 2005

The protonmotive force (Δp) of muscle mitochondria was measured by estimating the distribution of 14C‐labeled TPMP (trimethylphenylphosphonium iodide) and 14C‐labeled acetate across the inner membrane of muscle mitochondria. The matrix volume was simultaneously determined using 3H‐labeled H2O and 3H‐labeled mannitol and repeated drying to distinguish the label in these 2 compounds. Rapid separation of mitochondria from the incubation medium by centrifugation through silicone oil avoids the problems of potential anaerobic conditions associated with conventional centrifugation and large volumes of trapped media associated with filtration. The value for Δp (mean ± SD) was 192 ± 26 mV in 30 determinations with rat muscle mitochondria during state 4. Measurement of oxygen consumption allowed calculation of membrane conductance (Cm, H+) which was 0.49 ± 0.18 nmol of H+/min/mg protein/mV. The values for δp and Cm, H+ are reported for a variety of experimental conditions and are consistent with Mitchell's chemiosmotic theory. Biopsy specimens obtained from human muscle gave state‐4 Δp values of 197 ± 30 mV (n = 5) and Cm, H+ values of 0.52 ± 0.12 nmol of H+/min/mg/mV (n = 4). This Δp assay is the first described for coupled mammalian muscle mitochondria and will be useful in assessing membrane function.
Gangliosides and sialoglycoproteins in normal and denervated rat diaphragm muscle
Authors: Inestrosa Nibaldo C. , Fernandez Hugo L.
Published: January 2005

Ganglioside‐ and glycoprotein‐bound sialic acid in endplate and non‐endplate regions of rat diaphragm muscles were assessed 1–16 days after phrenic nerve transection. Sialic acid in glycoproteins (90% of total) and gangliosides (10% of total) from intact hemidiaphragms was distributed uniformly throughout endplate and nonendplate regions. After denervation, the total sialic acid per hemidiaphragm increased (days 1–4) and reached a maximum level (days 8–12) which remained constant (days 12–16). These sialic acid changes reflected increments in gangliosides (40% over control), which occurred simultaneously in endplate and nonendplate regions (days 1–8), and increments in sialoglycoproteins (70%–80% over control), which took place much earlier in endplate (days 1–8) than in nonendplate (days 8–14) regions. The results of this study, together with previous data, favor the hypothesis that maintenance of both sialoglycoproteins and gangliosides depends upon an intact innervation, probably through separate mechanisms involving different neurogenic factors.
Histochemical staining of the acetylcholine receptor, acetylcholinesterase, and the axon terminal
Authors: Bjornskov Elizabeth K. , Norris Forbes H. , Mower‐Kuby Janis
Published: January 2005

Fluoresceinated alpha‐bungarotoxin (α‐BT) and the Pestronk‐Drachman neuromuscular stain were combined to demonstrate the acetylcholine receptor, the junctional acetylcholinesterase, and the nerve terminal on the same endplate. The method is reliable and rapid. Synapses in both normal muscle and muscle affected by amyotrophic lateral sclerosis (ALS) are equally well displayed.
Normal function in sarcoplasmic reticulum from mice with muscular dystrophy
Authors: Mrak Robert E. , Fleischer Sidney
Published: January 2005

A rapid, gentle technique has been developed for the isolation of sarcoplasmic reticulum (SR) from small amounts of skeletal muscle from normal and dystrophic mice. Assays for mitochondrial and surface membrane marker enzymes revealed only low levels of contamination in the isolated fractions. A small amount of calcium‐insensitive (“basal”) ATPase in the normal preparation and a higher value in the dystrophic were shown to be due to contamination by a lighter membrane fraction of probable surface membrane origin. Isolated SR from normal and dystrophic mice were indistinguishable by thin section and freeze‐fracture electron microscopy. Only small differences in calcium loading rates and capacity, and in calcium‐stimulated ATPase activity, were present. These were attributable to small differences in purity. We conclude that there is no difference in SR from normal and dystrophic mice in the properties measured.
Chronic elevation of endoneurial fluid pressure is associated with low‐grade fiber pathology
Authors: Low Phillip A. , Dyck Peter James , Schmelzer J. D.
Published: January 2005

The effects of chronic elevations of endoneurial fluid pressure (EFP) on mammalian nerve fibers were studied using a modified model of experimental galactose neuropathy. Fiber pathology was monitored by the sensitive method of grading the pathologic abnormalities of single teased fibers. Prominent edema was produced in rats poisoned with combined oral and parenteral galactose. EFP and fascicular size were markedly elevated and tibial nerve conduction velocity was reduced. We have demonstrated, for the first time, the presence of fiber degeneration in galactosefed rats. Possible mechanisms of nerve fiber damage include: (1) impaired capillary circulation and increased fiber separation secondary to increased EFP and edema, respectively; (2) increased endoneurial hyperosmolarity, which is known to cause changes in fiber shape; and (3) unknown metabolic derangement of axons. Because much higher rates and different types of fiber pathology are encountered in lead and hexachlorophene intoxication having comparable degrees of EFP, one cannot attribute the fiber pathology directly to the raised EFP in these latter neuropathies.
Perineuritis in mononeuritis multiplex with cryoglobulinemia
Authors: Konishi Tetsuro , Saida Kyoko , Ohnishi Akio , Nishitani Hiroshi
Published: January 2005

A case with mononeuritis multiplex associated with mixed cryoglobulinemia and mild persistent hepatitis is reported. Sural nerve biopsy specimens revealed thickening of the perineurium and vascular alterations with inflammatory cells infiltrating into the perineurium as well as the epineurium and endoneurium, thus having the features of perineuritis. Most myelinated and unmyelinated nerve fibers were lost. A therapeutic trial of corticosteroids decreased the serum titer of cryoglobulin without any improvement of clinical features.