bluuebunny/crossref_metadata_2025 huggingface dataset:
Expression and subcellular distribution of glutamate receptor subunits 2/3 in the developing cerebellar cortex
Authors: Bergmann M. , Fox P. A. , Grabs D. , Post A. , Schilling K.
Published: January 2005

The expression and subcellular location of glutamate receptor subunits 2&3 was investigated in the developing postnatal cerebellum. Immunoblotting revealed that glutamate receptor subunits 2/3 is expressed in an identical pattern of immunoreactive bands of approximately 108 kDa from postnatal day zero to adult animals. Light microscopy showed that within the cerebellar cortex, GluR 2/3 immunoreactivity was essentially confined to Purkinje neurons. Strong immunostaining could be observed at postnatal days 1–3 within Purkinje cell bodies and primary dendrites. With ongoing development, the cell body and an increasingly elaborate dendritic tree was outlined by immunoreaction product. In adult animals, staining of Purkinje cell dendrites was patchy, and staining intensity of the cell body, in particular, was greatly reduced. Ultrastructural analysis revealed that during early postnatal development, immunoreaction product was localized to the cell membrane, but was not confined to postsynaptic densities. From the second postnatal week, glutamate receptor subunits 2/3 immunoreactivity was largely restricted to postsynaptic densities. These observations reveal a developmentally regulated refinement of the subcellular distribution of defining subunits of the AMPA‐type glutamate receptor. The presence of membrane bound receptors prior to the formation of synapses also provides a rationale for the known transmitter‐mediated modulation of Purkinje cell dendritogenesis. © 1996 Wiley‐Liss, Inc.
Cerebral metabolism of glucose in benign hereditary chorea
Authors: Suchowersky Oksana , Hayden Michael R. , Martin W. R. Wayne , Stoessl A. Jon , Hildebrand Anne M. , Pate Brian D.
Published: January 2005

Benign hereditary chorea (BHC) is an autosomal dominant disorder characterized by chorea of early onset with little or no progression. There is marked clinical variability in this disease with some subjects having onset in infancy and others with onset in early adulthood. In contrast to Huntington's disease (HD), there is no dementia. Computed tomography is normal in all subjects with no evidence of caudate nucleus atrophy. We present the results of positron emission tomography using 18F‐2‐fluorodeoxyglucose on three patients with this disorder from two families. Cerebral glucose metabolism in one patient was decreased in the caudate nucleus, as previously reported in HD. The other two persons from a second family showed a relative decrease in metabolic rates of glucose in the caudate when compared with the thalamus. It appears that caudate hypometabolism is not specific for HD. These findings suggest that the caudate nucleus may play a significant role in the pathophysiology of some persons with BHC.
Ipsilateral blepharospasm and contralateral hemidystonia and parkinsonism in a patient with a unilateral rostral brainstem– thalamic lesion: Structural and functional abnormalities studied with CT, MRI, and PET scanning
Authors: Leenders K. L. , Frackowiak R. S. J. , Quinn N. , Brooks D. , Sumner D. , Marsden C. D.
Published: January 2005

A patient developed progressive right hemidystonia in childhood. Subsequently, left‐sided blephaospasm, slurred and stuttering speech, and right‐sided rigidity and bradykinesia, responsive to dopamine agonists, appeared. Investigation with computed tomography and magnetic resonance imaging (MRI) at age 43 years revealed a left‐sided calcified rostral brainstem‐thalamic lesion of uncertain aetiology. Although no structural lesion was seen in the striatal regions, L‐[18F]‐fluorodopa uptake was severely diminished in the left striatum but normal on the right. Dopamine receptor binding identified by [11C]‐methylspiperone was in the normal range on both sides.
Ramsay hunt syndrome and coeliac disease: A new association?
Authors: Lu Chin‐Song , Thompson Philip D. , Quinn Niall P. , Parkes J. D. , Marsden C. David
Published: January 2005

Two patients with the syndrome of Ramsay Hunt (dyssynergia cerebellaris myoclonica, DCM), associated with malabsorption due to adult coeliac disease, are reported. Both presented with progressive cerebellar ataxia, action myoclonus, and epilepsy. One had gastrointestinal symptoms (recurrent diarrhea and weight loss which responded satisfactorily to a gluten‐free diet), but the other did not. In both patients, jejunal biopsy revealed subtotal villous atrophy; serum folate and vitamin E level were also reduced. Neither a glutenfree diet nor vitamin supplements improved the neurological picture. However, some symptomatic relief was afforded by treatment with clonazepam, sodium valproate, carbamazepine, and piracetam. It could be argued that the association between these two disorders is coincidental. However, since we have found this combination in 2 of 14 consecutive cases with DCM, a causal relationship seems likely, although the underlying mechanism remains unknown. Patients with the Ramsay Hunt syndrome should be investigated for malabsorption, and also undergo small intestinal biopsy.
Simple and complex movements in a patient with infarction of the right supplementary motor area
Authors: Dick J. P. R. , Benecke R. , Rothwell J. C. , Day B. L. , Marsden C. D.
Published: January 2005

The role played by the supplementary motor area (SMA) in the higher‐level organization of motor behaviour (motor programming) has been highlighted by the study of cerebral blood flow during voluntary movements in normal humans. We present a detailed physiological investigation from a patient with a right SMA lesion and show that the right SMA plays a role in programming simultaneous and sequential movements in both arms, though the contralateral arm was the more severely impaired. In addition, we obtained evidence to suggest that the precentral motor cortex may be more responsive to peripheral perturbations when the modulating influence of the SMA is absent. In view of the similarity of the physiological findings in this subject to those in patients with Parkinson's disease, we suggest that the defect of motor programming in Parkinson's disease is likely to reflect functional deafferentation of the SMA.
Involuntary grasping and groping responses to space‐related visual stimuli
Authors: Magnani G. , Mazzucchi A. , Poletti A. , Scoditti U. , Parma M.
Published: January 2005

Involuntary groping‐grasping responses to visual stimuli were studied in relation to the location of the stimuli in the space surrounding the patient. The following space‐related patterns of stimulus‐response were observed in four patients: (a) responses were evoked only by visual stimuli in the hemispace ipsilateral to the arm involved; (b) responses were evoked only by visual stimuli within the reach of maximal arm extension; (c) responses were evoked only by visual stimuli in the space around the hand; (d) all such patterns were variously combined. These findings are discussed in relation to the general problem of specific correlations between sensorimotor subsystems and peripersonal behavioral space.
Anticholinergic‐induced chorea in the treatment of focal dystonia
Authors: Nomoto M. , Thompson P. D. , Sheehy M. P. , Quinn N. P. , Marsden C. D.
Published: January 2005

The occurrence of chorea, induced by trihexyphenidyl (benzhexol hydrochloride) during the treatment of five adult patients who had focal or segmental dystonia, is described. The dose at which chorea appeared ranged from 15 to 60 mg/day (mean 31.7 mg/day). All but one patient had developed common adverse effects of this drug (dry mouth, blurred vision, and confusion) at lower doses (mean 21.8 mg per day). There was an inverse relationship between the age of the patient and the dose of trihexyphenidyl at which chorea developed.
Blepharospasm and autoimmune diseases
Authors: Jankovic Joseph , Patten Bernard M.
Published: January 2005

We studied two patients, one with systemic lupus erythematosus and the other with myasthenia gravis, both of whom had coexistent blepharospasm. The blepharospasm occurred during exacerbations of the autoimmune diseases and improved with immunosuppressive therapy. These cases illustrate the possible association of blepharospasm and autoimmune disorders.
Regional cerebral glucose metabolism in SLE chorea: Further evidence that striatal hypometabolism is not a correlate of chorea
Authors: Guttman M. , Lang A. E. , Garnett E. S. , Nahmias C. , Firnau G. , Tyndel F. J. , Gordon A. S.
Published: January 2005

The pathophysiology of chorea in systemic lupus erythematosus (SLE) is uncertain. Pathologic examination has not identified a specific localtion for the causative lesions (s) and immunologic mechanisms have been suggested in its etiology. In other choreic disorders, such as Huntigton's disease and benign hereditary chorea, glucose hypometabolism in the striatum has been domonstrated by positron computed tomography (PCT) using [18F] deoxyglucose. With this technique we have studied four patients with chorea secondary to SLE. In these patients the regional distribution of cerebral glucose metabolism was normal. In particular, striatal glucose metabolism was within the normal range, even though the ratio of striatal to cortical glucose metabolism was increased. Our results show that striatal hypometabolism, as seen in other disorders manifesting chorea, is not the PCT correlate of the dyskinesia.
Trauma as an etiology of parkinsonism: A historical review of the concept
Authors: Factor Stewart A. , Sanchez‐Ramos Juan , Weiner William J.
Published: January 2005

The relationship between trauma and the development of Parkinson's disease has been an issue in neurology since James Parkinson's initial 1817 essay. This paper will delineate the historical development of the concept of trauma as an etiologic agent in Parkinson's disease and parkinsonism. The strong influence of socioeconomic societal forces in the 1870s with regard to liability lawas and the subsequent acceptance in the medical community of the role of peripheral trauma in producing Parkinson's disease is presented. We will also review present‐day criteria for assigning head trauma an etiologic role in parkinsonism. The discussion will stress current knowledge regarding trauma and parkinsonism, and it will also review the issues of the possible role of the current litigious society's influence on determining a role for trauma in Parkinson's disease.
Cryptococcal meningoencephalitis with parkinsonian features
Authors: Wszolek Zbigniew , Monsour Howard , Smith Philip , Pfeiffer Ronald
Published: January 2005

The subacute onset of parkinsonism in a patient with cryptococcal meningoencephalitis is described. The prompt resolution of the extrapyramidal dysfunction with antifungal agents suggests direct involvement of basal ganglia structures by the cryptococcal infection. Rapid development of parkinsonism in immunocompromised individuals should prompt investigation for an infectious etiology.
The diverse neurological features of Niemann‐Pick disease type C: A report of two cases
Authors: Coleman R. J. , Robb S. A. , Lake B. D. , Brett E. M. , Harding A. E.
Published: January 2005

Two cases of Niemann‐Pick disease type C are described in order to illustrate the variable neurological features of this rare condition. One presented with a predominantly akinetic‐rigid syndrome at the age of 5 years. The second developed progressive ataxia, accompanied by a vertical gaze palsy, when she was 13. Neither patient had hepatosplenomegaly; the diagnosis of Niemann‐Pick disease type C was based on finding foamy storage cells in bone marrow aspirates.
Systemic toxicity of botulinum toxin by intramuscular injection in the monkey
Authors: Scott Alan B. , Suzuki David
Published: January 2005

Botulinum toxin (Oculinum) was injected intramuscularly into eight monkeys. The LD50 dose is estimated to be ∼39 U/kg body weight. The lowest dose that caused systemic toxicity, 33 U/kg, was close to the fatal dose range, 38–42 U/kg.
The evolution and distribution of morphological changes in the nervous system of the common marmoset following the acute administration of 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine
Authors: Gibb W. R. G. , Terruli M. , Lees A. J. , Jenner P. , Marsden C. D.
Published: January 2005

Six young adult marmosets received 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine in multiple doses (total 8–16 mg/kg over 2–13 days) sufficient to produce a parkinsonian syndrome and were killed up to 3.5 months later. Cellular changes were found in the substantia nigra, ventral tegmental area, and hypothalamus. The earliest histological abnormalities were axonal swellings in proximal parts of nigrostriatal axons. Subsequent changes in the substantia nigra were reduced Nissl staining, reduced cell volume, and aggregation and loss of melanin granules. Other effects were reduced nuclear and nucleolar volumes, depletion of cells, and hyperplasia of glial cells. Shrunken cytoplasm and nuclei stained uniformaly with eosin, and no cells showed cytoplasmic swellings or inclusions. These cellular alterations, with nuclear chages resembling karyolysis, do not occur in Parkinson's disease, which is characterised by Lewy body inclusions and signs of chromatolysis. The rapid appearance of axonal swellings, disruption of Nissl substance, and cell shrinkage suggest an insult to energy producing mechanisms. In this study, the absence of histological evidence of toxicity in the locus coeruleus and also in the substantia innominata and in serotonergic cell groups is unlike the more wide‐spread degenerative changes of Parkinson's disease.
Bereitschaftspotential in tardive dyskinesia
Authors: Adler Lawrence E. , Pecevich Mark , Nagamoto Herbert
Published: January 2005

The bereitschaftspotential or motor readiness potential is a slow negative electroencephalographic wave occurring 150–1500 ms prior to the onset of a voluntary movement. It was measured in 33 subjects: 11 normal controls, 11 medicated schizophrenics with no tardive dyskinesia or evidence of drug‐induced parkinsonism, and 11 patients with tardive dyskinesia. The bereitschaftspotential amplitude was more than two times larger in patients with tardive dyskinesia than in normal controls or schizophrenic patients without tardive dyskinesia. The increased amplitude correlated with the degree of severity of the tardive dyskinesia as measured on the Abnormal Involuntary Movement Scale (AIMS). The finding of the increased bereitschaftspotential amplitude in tardive dyskinesia, taken together with earlier findings of low amplitude in Parkinson's disease, suggests that this potential may reflect the level of dopaminergic activity in the basal ganglia.
Clinical and CT scan findings in a case of cyanide intoxication
Authors: Grandas F. , Artieda J. , Obeso Joséea A.
Published: January 2005

A 39‐year‐old man showed a combination of severe parkinsonism and progressive dystonia following attempted suicide with sodium cyanide. Computed tomography (CT) scan showed bilateral lucencies in the putamen and external globus pallidus. The topography of lesions on CT scan closely correlated with the pathological findings described in a previous report of cyanide‐induced parkinsonism. This is the first reported case of cyanide intoxication with delayed‐onset dystonia.
Familial hemifacial spasm
Authors: Friedman Andrzej , Jamrozik Zygmunt , Bojakowski Jacek
Published: January 2005

We present a family in which hemifacial spasm involving in all cases the left side of the face occurred in five persons in three generations. Blink reflexes recorded in two cases demonstrated an unexpected R1 component on the affected side during stimulation of the contralateral side.
Eyelid movement abnormalities in progressive supranuclear palsy
Authors: Golbe Lawrence I. , Lepore Frederick E. , Davis Patricia H.
Published: January 2005

We systematically videotaped eyelid movements in a community‐based series of 38 patients with progressive supranuclear palsy (PSP). Ten patients (26%) had blepharospasm, “apraxia” of lid opening and/or “apraxia” of lid closing. These patients as a group had more severe upgaze paresis but no greater disease duration than the patients without supranuclear lid dysfunction. Patients used a variety of synkinetic movements to overcome lid‐movement abnormalities. One patient displayed “slow blinks”, a phenomenon not previosly described in PSP. Blink rate in PSP, 3.0/min, was markedly lower than that in patients with Parkinson's disease (PD), 12.5/min, and patients with PSP but not PD increased their blink rate during command versional eye movements.
Modeling the functional organization of the basal ganglia. A parallel distributed processing approach
Authors: Mitchell I. J. , Brotchie J. M. , Brown G. D. A. , Crossman A. R.
Published: January 2005

Despite recent advances in the understanding of the pathophysiology of movement disorders, little is known about the precise function the basal ganglia play in the control of movement. We review an approach to studying the function of neural systems that is based on the use of a class of computer models known as parallel distributed processors (PDPs) and indicate its potential range of applications to the study of movement disorders. PDPs can be used to construct computational devices that take into account the anatomical and pharmacological properties of real neural systems. They can also provide computational‐level insights that can lead to novel hypotheses concerning brain function. We discuss both these approaches and outline a scheme of the functional organization of the basal ganglia, which predicts some of the pathophysiological mechanisms that mediate movement disorders and which can be formally modeled on a computer.
Cortical activity preceding self‐initiated and externally triggered voluntary movement
Authors: Papa S. M. , Artieda J. , Obeso José A.
Published: January 2005

The cortical electromyogram (EMG) activity, preceding voluntary movemnts, was recorded in 12 normal subjects in two different situations: first, when movements, were self‐induced by the subjects by their own will; and second, in response to threshold electrical stimulation of the index finger, a brief flash of a light‐emitting diode (LED), and a click. Four types of movements were studied: (a) fast extension of the right wrist, (b) fast supination of the left wrist, (c) either movement depending on the subject's own decision or on which index finger was stimulated, and (d) fast sequential right and left wrist extension. In all subjects, self‐initiated movements were preceded by a typical Bereitschaftspotential (BP) starting 1, 290 ± 208 ms before the EMG discharge. When the same movements were triggered by an external clue, there was no BP. The BP was present, although with a shorter duration, when subjects were asked to wait for a brief period after index finger stimulation, before extending the right wrist. From these results, we conclude that the BP is closely associated with the timing of internally generated movements, and that different cortical areas are probably involved in the generation of self‐induced and externally referenced movements in humans.
Prior history of head trauma in Parkinson's disease
Authors: Factor Stewart A. , Weiner William J.
Published: January 2005

The purpose of this study was to evaluate the relationship between head trauma and Parkinson's disease (PD). A questionnaire was completed by 97 PD patients (mean age 68.6 years, duration of disease 6.4 years) and 64 spouses acting as controls (mean age 63 years). Thirty‐one PD patients reported head trauma before onset of PD (mean 32.3 years earlier), whereas 11 controls reported head injury before completing the survey (mean 26 years earlier) (p < 0.05). Twenty PD patients and five controls reported head injury associated with alteration or loss of consciousness (p < 0.05). Injury occurred a mean of 37.7 years before onset of PD and 37.2 years before survey completion in the two groups, respectively. In both of these comparisons we adjusted the frequencies to eliminate sex differences between groups. Comparison of new frequencies showed differences that were not significant. However, a trend toward significance was observed when examining head trauma with alteration of consciousness. Other investigators have reported similar results indicating that previous head trauma may be a risk factor in the etiology of PD. However, recall bias might have an effect on the outcome of these studies and this is discussed. The relationship between head trauma and PD is still tenuous.
Voluntary stimulus‐sensitive jerks and jumps mimicking myoclonus or pathological startle syndromes
Authors: Thompson P. D. , Colebatch J. G. , Brown P. , Rothwell J. C. , Day B. L. , Obeso J. A. , Marsden C. D.
Published: January 2005

Five patients who presented with stimulus‐induced jerking as part of an apparent myoclonic or pathological startle syndrome are reported. Neurophysiological observations in these patients suggested the jerks were voluntary in origin. These included (a) variable latencies to the onset of stimulus induced jerks, (b) latencies were greater than that seen in reflex myoclonus of cortical or brainstem origin, and were (c) longer than the fastest voluntary reaction times of normal subjects, (d) variable patterns of muscle recruitment within each jerk and, (e) significant habituation with repeated stimulation. It is argued that these features are consistent with a voluntary origin for the jerks and enable them to be distinguished from the stereotyped electrophysiological characteristics of myoclonus of cortical and brainstem origin. Electrophysiological recordings may help identify patients with this form of psychogenic movement disorder.
“Rubral” tremor induced by a neuroleptic drug
Authors: Friedman Joseph H.
Published: January 2005

“Rubral” tremor is a rare movement disorder that occurs typically with midbrain damage. It is defined by its presence at rest, with sustained posture, and with movement. Whether it is a single‐tremor disorder or a combination of two distinct tremors is debated. This report chronicles a severe neuroleptic induced “rubral” tremor in a patient who had had a stable posttraumatic ataxia. The dramatic response to benztropine and bromocriptine is illustrated in the videotape.
Linkage studies in alcohol‐responsive myoclonic dystonia
Authors: Gasser T. , Bereznai B. , Müller B. , Pruszak‐Seel R. , Damrich R. , Deuschl G. , Oertel W. H.
Published: January 2005

A large German family with “myoclonic dystonia with lightning jerks responsive to alcohol” was identified. Eleven affected pedigree members and six obligate gene carriers from five generations were identified. A description of one branch of this pedigree was published in 1964. Our examination 30 years after the initial report confirms the clinical syndrome of a nonprogressive movement disorder charcterized by myoclonic jerks affecting the proximal muscles and the muscles of the trunk, accompanied by mild dystonic features in some affected family members. Segregation analysis favors autosomal dominant inheritance with high, but incomplete, penetrance in males and much lower penetrance in females. Linkage analysis was performed using simple sequence repeat polymorphisms (CA repeats) closely associated with or spanning the chromosomal regions containing 15 candidate genes: the gene for early‐onset generalized torsion dystonia, DYTI (chromosome 9q34); the genes for subunits α2, β1, and γ1 (chromosome 4p12–4q13);for α1,α6,β2 and γ2(chromosome 5q31.1–5q31.3); for α4,α5,β3, and γ3 (chromosome 15q11–15q13); for ρ1 and ρ2 (chromosome 6q14–6q21) of the gamma‐aminobutyric acid A receptor; and for the alpha subunit of the glycine receptor (chromosome 5q31). By a combination of pairwise and multipoint linkage analysis, it could be excluded that any of these candidate gene bearing chromosomal regions contain the disease gene in this family. We also excluded major portions of three chromosomal regions syntenic with mouse chromosome 3, which carries the murine beta subunit of the glycine receptor.
Oral and genital pain syndromes in Parkinson's disease
Authors: Ford Blair , Louis Elan D. , Greene Paul , Fahn Stanley
Published: January 2005

Painful sensory complaints are known to occur in Parkinson's disease, but painful oral or genital syndromes have not been described. We report seven individuals with presumed idiopathic Parkinson's disease and one with atypical parkinsonism who experienced chronic severe oral or genital pains that appeared to be examples of a primary sensory disturbance related to the underlying parkinsonism. In each case, the pain syndrome overshadowed the other features of the parkinsonism. Five patients experienced oral pain and three patients, all women, had genital pain. No other definable organic cause was detected to explain the symptoms in any case. The genital pain tended to fluctuate in severity with the motor manifestations of the parkinsonism and could be abolished or reduced by levodopa. The recognition of painful oral or genital sensations in patients with parkinsonism should lead to further study regarding the prevalence, neurochemical basis, and treatment for these disabling symptoms.
A new stain for quantitative measurement of sprouting at neuromuscular junctions
Authors: Pestronk Alan , Drachman Daniel B.
Published: January 2005

A new combined stain for the simultaneous demonstration of motor nerve terminals and cholinesterase at neuromuscular junctions is described. It employs bromoindoxyl acetate dye‐staining for cholinesterase and silver‐gold impregnation for nerve terminals. The clarity and reliability of the stain permit quantitative measurements of neuromuscular junctions in order to evaluate nerve terminal sprouting as well as other pathological changes. The method is rapid, reproducible, and simple, and it is well suited for the processing of large numbers of frozen sections.
Myasthenia gravis: A personal view of pathogenesis and mechanism, part 2
Authors: Simpson John A.
Published: January 2005

A review of our current knowledge of the etiology and pathogenesis of myasthenia gravis is presented, with particular emphasis on the immunological aspects of the disease. Part 1, published in the January/February issue of MUSCLE & NERVE, dealt with the clinical and genetic features of myasthenia gravis which led to the autoimmune theory of the etiology of the disease. Part 2, which appears in this issue, provides a review of the dysfunction of physiology, pharmacology, and structure of the neuromuscular junction in myasthenia gravis, and the part played by the autoimmune process.
Peripheral neuropathy in lead‐intoxicated sickle cell patients
Authors: Imbus Charles E. , Warner Judith , Smith Elaine , Pegelow Charles H. , Allen John P. , Powars Darleen R.
Published: January 2005

Peripheral neuropathy and hypertension caused by lead intoxication are reported in two children with sickle cell anemia. One child had generalized weakness in the initial occurrence and distal paralysis during a relapse two years later. The second child had foot and wrist drop. Both had slow peripheral nerve conduction velocities during the episodes. Chelation therapy was successful and resulted in a return of strength (over a period of several months) and a normalization of the blood pressures. Children with sickle cell anemia who are subjected to lead intoxication appear to be predisposed to peripheral nerve damage.
Muscle trophic factor: II. Ontogenic development of activity of a muscle trophic factor in chicken serum
Authors: Kohama Kazuhiro , Ozawa Eijiro
Published: January 2005

The activity of chicken skeletal muscle cell trophic factor was greater in chicken serum than in other tissues examined. The variation of this activity in chicken serum was studied pre‐and post hatching. The activity of the factor in the embryo was high from day 11 to day 13 of incubation and then decreased, reaching a minimum on day 16. It subsequently increased again, reaching a peak around the day of hatching. After hatching, the activity in serum began to decrease on day 4, reaching a minimum at day 18. In the hen, activity did not vary significantly beyond day 18. In the rooster, however, activity increased gradually from about day 50, reached a new maximum by day 110, and was maintained at this level thereafter. The ratio of the average activity of serum from roosters older than 110 days to that of hens of the same age was about 4:3. The time course of activity of the trophic factor closely parallels that of the growth and differentiation of the muscle in vivo.
Early recognition of nerve disorders by near‐nerve recording of sensory action potentials
Authors: Rosenfalck Annelise
Published: January 2005

Evaluated herein are the advantages and limitations of recording sensory action potentials with a gross electrode placed near the nerve. This technique has proved to be a sensitive measure of early nerve damage for two reasons: first, electrodes can be positioned in such a way that maximal velocity is determined only along the abnormal stretch of the nerve; and second, small late components originating from demyelinated, remyelinated, or regenerating fibers can be detected.
Recognition of unmyelinated fiber disease: Morphologic criteria
Authors: Ochoa José
Published: January 2005

An attempt is made to evaluate available information regarding the integrity of unmyelinated fibers, particularly somatic unmyelinated fibers in man and in other primates, with relation to early recognition of nerve disorders. Discussion is limited to morphologic aspects of these fibers.
The blanket principle: A technical note
Authors: Payan J.
Published: January 2005

Low‐frequency attenuation of motor unit potentials may reveal abnormal complexity and instability of the motor unit. An ordinary concentric needle electrode is used, so the method bridges the gap between single‐fiber and conventional electromyography.
Acetylcholine receptor antibodies in the diagnosis of human and experimental myasthenia gravis
Authors: Heilbronn Edith , Lefvert Ann‐Kari , Stålberg Erik
Published: January 2005

Aspects of acetylcholine receptor immunology and circulating receptor antibodies are reviewed with regard to both human and experimental myasthenia gravis. Receptor antibodies that have negligible cross‐reactivity with skeletal muscle receptor can nonetheless cause destruction of the postsynaptic motor endplate area. Antibodies to mammalian skeletal muscle receptor can bind in‐situ receptors. Transfer of myasthenic IgG increases neurophysiologic symptoms in rabbits showing slight sings of experimental myasthenia gravis, suggesting a block of in‐situ receptors. Determination of receptor antibodies using RIA tests and partially purified human skeletal muscle receptor has been evaluated in the diagnosis of myasthenia gravis. Ninety percent of Swedish myasthenic patients in one study were found to have receptor antibodies. A rough correlation has been found between antibody titer and the severity of disease. Immunosuppressive treatment and thymectomy decrease the titer. In patients with thymoma, high antibody titers remain. When taken together, antibody‐titer determination and electrophysiologic tests–particularly single‐fiber electromyography–are very valuable diagnostic tools.
The effect of anticholinesterases on motor unit potentials in myasthenia gravis
Authors: Pinelli Paolo
Published: January 2005

In most patients with myasthenia gravis, the mean duration and amplitude of motor unit potentials sampled in the extensor digitorum communis muscle, as well as the amplitude of the pattern of activity during full effort, increased after application of anticholinesterase. This appears to be a sensitive test for early detection of failure in neuromuscular transmission. In a series of 12 patients, the mean amplitude of motor unit potentials increased 30%–130% in 9, and the mean duration increased 10%–25% in 7. In 3 patients who failed to show an increase in amplitude in the extensor digitorum communis muscle, the amplitude of motor unit potentials increased in a facial or extraocular muscle after intravenous application of edrophonium. This increase in the amplitude or duration of motor unit potentials was even evident in 4 patients who failed to show a decrement in response of the opponens pollicis muscle to repetitive stimuli delivered to the median nerve at 3/sec and 5/sec. In 5 patients, responses evoked by stimuli delivered at 15/sec showed marked facilitation.
Muscle and nerve changes induced by perhexiline maleate in man and mice
Authors: Fardeau M. , Tomé F. M. S. , Simon P.
Published: January 2005

Perhexiline maleate therapy may produce a polyneuropathy as well as other side effects in man. The Schwann‐cell origin of the neuropathy is demonstrated by morphologic studies. Ultrastructural studies of muscle and nerve biopsies showed the presence of intracytoplasmic inclusions, primarily in Schwann cells, muscle fibers, and endothelial cells. These inclusions were polymorphic and varied from one cell type to another. They were frequently associated with calcium deposits, and their structure suggested a lysosomal origin. It was possible experimentally to reproduce similar inclusions in mice. Furthermore, numerous tubular aggregates were observed in intoxicated mouse muscle fibers.
Inflammatory myopathy in oculopharyngeal dystrophy
Authors: Bosch E. Peter , Gowans James D. C. , Munsat Theodore
Published: January 2005

A 75‐year‐old French‐Canadian woman with familial oculopharyngeal dystrophy demonstrated histopathologic alterations similar to those of idiopathic polymyositis. A second biopsy obtained 15 months later was more consistent with previously reported cases. It is suggested that certain patients with oculopharyngeal dystrophy may pass through an initial phase of secondary muscle inflammation similar to that seen in some other heritable myopathies.
Congenital hypotonia revisited
Authors: Brooke Michael H. , Carroll James E. , Ringel Steven P.
Published: January 2005

The definition of neuromuscular diseases affecting infants has depended on factors as various as the rate of progression of the illness, the clinical picture, and, recently, the morphologic peculiarities in the muscle biopsy. A review of the literature suggests that there are discrepancies in the classification of such illnesses, no matter what system is used. In some instances, a single diagnosis seems to include patients with quite separate illnesses, whereas other patients with seemingly identical diseases have been given different diagnoses.
F waves in patients with hand wasting caused by a cervical rib and band
Authors: Wulff C. H. , Gilliatt R. W.
Published: January 2005

In five patients with unilateral wasting of the hand muscles as a result of a cervical rib and band, F waves were recorded from the hypothenar muscles following stimulation of the ulnar nerve at the wrist. Twelve healthy control subjects were also examined. F‐wave latency was consistently increased in the affected hands of the patients, compared with results from the unaffected and control hands. This increase persisted after removal of the cervical band in four patients and was thought to be mainly due to degeneration of fast‐conducting fibers. In the fifth patient, F‐wave latency decreased after operation, suggesting recovery of a local conduction block in the proximal part of the nerve.
Actomyosin ATPase. II. Fiber typing by histochemical ATPase reaction
Authors: Mabuchi K. , Sréter F. A.
Published: January 2005

A new method for fiber typing based on staining for actomyosin Ca, Mg‐ATPase is presented. Inclusion of ethanol in the medium enhanced the differentiation of type 2A and 2B fibers. With this technique, type 1, 2A, and 2B fibers can be distinguished in a single‐step procedure for human biopsy samples.
Element analysis of skeletal muscle in duchenne muscular dystrophy using x‐ray fluorescence spectrometry
Authors: Maunder‐Sewry Caroline A. , Gorodetsky Raphael , Yarom Rena , Dubowitz Victor
Published: January 2005

Concentrations of calcium, iron, copper, and zinc were simultaneously measured by x‐ray fluorescence spectrometry in muscle biopsies from 11 normal subjects, 13 patients with Duchenne muscular dystrophy (DMD), and 3 DMD carriers. Calcium and copper levels were significantly elevated in patients with DMD compared to controls, and one presumptive carrier also showed an elevated calcium concentration. Comparisons with morphological data for the same samples showed a significant positive correlation between calcium concentration and the percentage area of type 2 fibers in controls, but no other correlations were found to be significant. These results illustrate the value of x‐ray fluorescence spectrometry and provide further evidence for the involvement of calcium in dystrophic processes.
An experimental morphometric study of neutral lipid accumulation in skeletal muscles
Authors: Odusote Kayode , Karpati George , Carpenter Stirling
Published: January 2005

The neutral lipid content of skeletal muscle fibers was determined by computing the lipid accumulation index (LAI) on transverse cryostat sections stained with Oil Red O. The LAI was defined as: (total area of neutral lipid droplets in a fiber) × 100/(total cross‐sectional area of a fiber). The biceps, diaphragm, and soleus muscles were studied in 3 groups of guinea pigs: normal animals, animals fasted for 48 hours, and animals subjected to muscle denervation and then fasted for 48 hours. and animals, subjected to muscle denervation and then fasted for 48 hours. In normal animals, the highest mean LAI was found in the diaphragm (4.93) in comparison with lower values in the biceps (2.25) and soleus (2.09). After fasting, these values were markedly increased; there was also a concomitant increase in plasma free fatty acid (FFA) concentration. Prior denervation further increased the LAI in biceps and soleus but reduced it in the diaphragm. Type 2A fibers tended to show high lipid accumulation when the plasma FFA concentration was high. Type 2B fibers never accumulated much lipid under any circumstances. Type 1 fibers varied in their response in the different muscles.
Plasma and red blood cell acetylcholinesterase in amyotrophic lateral sclerosis
Authors: Festoff Barry W. , Fernandez Hugo L.
Published: January 2005

Red blood cell and plasma cholinesterases were evaluated in control subjects and patients with the major forms of adult, sporadic motor neuron disease. For the purposes of this communication, the patients were considered as having amyotrophic lateral sclerosis (ALS) or its subtypes. Cholinesterase and acetylcholinesterase activities were evaluated and separated by dose response to their respective inhibitors. No kinetic differences were observed comparing red blood cell or plasma enzyme activities using either inhibitor. As found in previous studies, acetylcholinesterase accounted for more than 90% of acetylcholine hydrolysis in red blood cells. The plasma data were more complicated to evaluate, but at least 20% of total activity could be attributed to acetylcholinesterase. When red blood cell acetylcholinesterase activities of patients and controls were compared, no statistically significant difference was found. However, when plasma acetylchlinesterase activity was compared between the 2 groups, a statistically significant increase, almost twice the control value, was found in the ALS patients. These data may ultimately be important in the prognosis of this disease and, conceivably, could aid in understanding its pathogenesis.
Fresh and predegenerate nerve allografts and isografts in trembler mice
Authors: Pollard John D. , McLeod James G.
Published: January 2005

In order to investigate whether Schwann cell or myelin was the principal antigen responsible for nerve graft reiection, fresh nerve grafts and those in which myelin had been previously allowed to degenerate (predegenerate grafts) from both isogeneic BALB/c and allogeneic C57/B1 mice were inserted into trembler BALB/c mice. Schwann cells within nerve allografts from C57/B1 mice were rejected, whether or not the grafts contained myelin. Nerve isografts from normal BALB/c animals produced normally myelinated trembler axons within the grafted segments, and across these segments conduction velocity was restored towards the normal value. It is concluded that Schwann cells, not myelin, constitute the principlal antigen within nerve allografts and it is Schwann‐cell rejection that limits the sucessful use of nerve allografts.
Morphological and biochemical changes in muscle and peripheral nerve in Fabry's disease
Authors: Pellissier J. F. , van Hoof F. , Bourdet‐Bonerandi D. , Monier‐Faugere M. C. , Toga M.
Published: January 2005

In a case of Fabry's disease, microscopic, ultrastructural, and biochemical studies of a muscle biopsy were performed, as well as microscopic, ultrastructural, and morphometric studies of a nerve biopsy. Pleomorphic lipid inclusions were observed in muscle fibers, fibroblasts, and endomysial capillaries. Moreover, the thermolabile isoenzyme A of α‐D‐galactosidase was almost completely absent. In the nerve specimen, polymorphous lysosomes were noted in perineural cells, in fibroblasts, and in endothelial and perithelial cells in association with some nonspecific degenerative changes. The morphometric data revealed a loss of large myelinated fibers, an uncommon finding in Fabry's disease, and a decrease of the average diameter of the unmyelinated fibers, which was related to axonal sprouting. The relationship between the pain attacks and the increased number of the small unmyelinated fibers is discussed.
Late changes in the motor unit after acute poliomyelitis
Authors: Wiechers David O. , Hubbell Susan L.
Published: January 2005

Patients who have suffered an acute attack of poliomyelitis may develop a clinically evident progression of weakness later in life. A syndrome known as forme fruste amyotrophic lateral sclerosis occurs in severely affected older polio patients. Neither process is well understood. Ten subjects who had had polio at least 22 years prior to examination and had no complaints of rapid progression of weakness were studied. Single‐fiber recordings were made from the extensor digitorum communis or the tioialis anterior muscle. Fiber densities were increased in all patients. Eight of 10 patients showed marked abnormalities in jitter in more than 50% of the recordings examined. There was a significant association between the percentage of recordings with abnormal jitter and the time since the attack of polio. Blocking was seen in more than 30% of the recordings examined in 6 of 10 patients. There was a significant association between the percentage of recordings demonstrating blocking and both the chronological age and the number of years since the attack of polio. These abnormalities may represent disintegration with aging in the reinnervated motor units.
Creatine kinase activity in normal and duchenne muscular dystrophy fibroblasts
Authors: Davis Michael H. , Cappel Roseann , Vester John W. , Samaha Frederick J. , Gruenstein Eric
Published: January 2005

Cultured human skin fibroblasts from 9 patients with Duchenne muscular dystrophy (DMD) and 8 normal age‐ and sex‐matched controls were examined for creatine kinase (CK) activity. Both the normal and the DMD fibroblasts were found to have significant levels of CK activity (approximately 10 × 10−3 IU per milligram of fibroblast protein). The control cells had slightly higher CK activity than the DMD lines, but this difference was not significant (0.2 < P < 0.1). The MM (muscle) isozyme, the BB (brain) isozyme, and the MB (hybrid) isozyme of CK were found to be present in fibroblasts. The isozymes were separated by electrophoresis and the relative amount of each was determined for both normal and DMD cells. In normal fibroblasts, approximately 48% of the total CK activity was of the MM type, 40% was of the BB type, and 12% was of the MB type with no significant differences apparent between normal and DMD groups. The presence in human fibroblasts of significant levels of CK activity with a characteristic isozyme profile is an important consideration for studies of this “marker” enzyme in the pseudohypertrophic muscle of DMD.
Sources of error in the diagnosis of guillain‐barre syndrome
Authors: Feit Howard , Tindall Richard S. A. , Glasberg Mark
Published: January 2005

A careful monitoring of the accuracy of diagnosis in six cases of Guillain‐Barre syndrome has shown that a substantial proportion of these patients initially diagnosed as having Guillain‐Barre syndrome on the basis of characteristic clinical findings and an elevated level of protein in the spinal fluid had a neuropathy caused by another etiology. The pitfalls in the laboratory and clinical diagnosis of disorders that were confused with Guillain‐Barre syndrome were several: the pattern of neurological dysfunction in the Guillain‐Barre syndrome was not unique to that disorder; no specific laboratory test existed to confirm the diagnosis of Guillain‐Barre syndrome; and the laboratory diagnosis of other causes of similar neurological disorders (especially heavy metal intoxication) depended upon tests that are very unreliable.
Membrane myopathy: Morphological similarities to duchenne muscular dystrophy
Authors: Pestronk Alan , Parhad Irma M. , Drachman Daniel B. , Price Donald L.
Published: January 2005

Focal lesions in the plasma membrane overlying wedge‐shaped defects in muscle fibers (“delta lesions”) are an early pathological change in Duchenne muscular dystrophy (DMD). Abnormalities in the plasma membrane have been suggested as a cause of these lesions and of the degeneration of muscle fibers in DMD. We investigated the role of plasma membrane defects in the production of delta lesions by examining the effects of a series of membrane‐active agents—lysolecithin, deoxycholate, Triton X‐100, and melittin—on the muscles of rats in vivo. Within minutes after treatment with these agents, the muscle fibers developed typical delta lesions. Identical morphological changes were produced by the calcium ionophore A23187, suggesting that calcium entry may play an important role in this process. We conclude that damage to the plasma membrane or calcium entry can reproduce characteristic features of the muscle pathology seen in DMD. This model should prove useful in elucidating the mechanisms of muscle fiber damage and degeneration in DMD.
Protein synthesis in bupivacaine (Marcaine)‐treated, regenerating skeletal muscle
Authors: Jones George H.
Published: January 2005

Skeletal muscle regeneration has been induced by injection of the myotoxic drug bupivacaine (Marcaine) into the rat tibialis anterior muscle. Doses of 1.5 and 1.0% wt/vol produce significant levels of muscle regeneration, but these doses also produce large regions of ischemic muscle. Doses of 0.75 and 0.5% bupivacaine are also effective in inducing regeneration and produce little or no ischemia. Regenerating muscle is significantly more active in the incorporation of 35S‐methionine into protein than is control muscle, and the activity increase is directly proportional to the bupivacaine dose injected. Polyribosomes were isolated in greater yield from bupivacaine‐treated muscles, as compared with control muscles, 5 days postinjection, and were also more active in cell‐free protein synthesis than control polysomes. Again, the yield and activity of the muscle polysomes was directly proportional to the bupivacaine concentration used for injection. Polyacrylamide gel electrophoresis of polysomal cell‐free reaction mixtures demonstrated the synthesis of a number of myofibrillar proteins.