bluuebunny/crossref_metadata_2025_split huggingface dataset:
Follow‐up study of early‐life protective and risk factors in Parkinson's disease
Authors: Golbe Lawrence I. , Farrell Timothy M. , Davis Patricia H. 
Published: January 2005

AbstractPrevious studies suggest that Parkinson's disease (PD) is negatively associated with early‐life intake of vitamin E‐rich foods and positively associated with rural experience. Using a new survey design, we attempted to confirm and extend these results. We gave a telephone questionnaire to 106 patients with PD and to their spouses as controls. It assessed premarital consumption of 31 foods of various vitamin E content, vitamin supplements, and exposure to rural living. Respondents rated food consumption with respect to what they perceived as the average for their sex and age at that time. We found female patients with PD less likely than spouses to have eaten “peanuts and peanut butter” (p < .05), which are high in vitamin E. “Salad with dressing,” also high in vitamin E, gave a similar result (p < .05) for a male‐predominant patient group. Separate comparison of male controls with female controls ruled out sex‐related preferences as the explanation of our findings. Patients had more extensive rural experience and were more likely to have frequently sprayed pesticides (p < .05) than had controls. Our results justify further investigations into early‐life vitamin E intake, pesticides, and neurotoxins associated with rural life.
Generalized reflex myoclonus in a patient with alcohol‐sensitive spontaneous myoclonus and an abnormal gait
Authors: Artieda J. , Luquin M. R. , Vaamonde J. , Laguna J. , Obeso José A. 
Published: January 2005

AbstractA patient with alcohol‐sensitive spontaneous, action‐ and stimulus‐sensitive generalized reflex myoclonus is reported. Gait was abnormal but could not be clearly classified as dystonic. No other neurological abnormality was present. The possible relationship between alcohol‐sensitive myoclonic dystonic and this case is discussed. Reflex myoclonus may serve as an additional clinical marker in the study of families with alcohol‐sensitive myoclonus, dystonic, or both.
Dystonia and reflex sympathetic dystrophy induced by ergotamine
Authors: Merello Marcelo J. , Nogués Martín A. , Leiguarda Ramón C. , Saubidet Cristián López 
Published: January 2005

AbstractA 59‐year‐old man developed dystonia and reflex sympathetic dystrophy after receiving high doses of ergotamine for migraine treatment. Ischemia is suggested as the precipitating factor.
Machado‐Joseph disease in New England: Clinical description and distinction from the olivopontocerebellar atrophies
Authors: Sudarsky Lewis , Corwin Lee , Dawson David M. 
Published: January 2005

AbstractExperience is described in 25 patients from southern New England with Machado‐Joseph Disease, examined serially at annual screening clinics. The disorder is dominantly inherited, with a wide range of phenotypic variation. Core clinical features described include ataxia, nystagmus, dysarthria, facial fasciculations, and lid retraction, producing a characteristic staring expression. In addition, young onset patients have spasticity, extrapyramidal rigidity, and dystonic manifestations. Late onset patients often have distal atrophy and sensory loss. Postural instability is often an early feature. We discuss the distinction of this entity from the olivopontocerebellar atrophies.
Severe generalised dystonia associated with a mosaic pattern of striatal gliosis
Authors: Gibb W. R. G. , Kilford L. , Marsden C. D. 
Published: January 2005

AbstractA mosaic pattern of striatal pathology is described in a male who developed severe generalised dystonia from the age of 10 years, and died at the age of 18 years. There was no family history of dystonia, and extensive investigations during his life failed to identify a cause for the dystonia. The caudate nucleus and putamen showed a network of cell loss and gliosis surrounding islands of preserved striatum. Dorsal parts showed confluent gliosis, and ventral parts were spared. The pattern suggested a correlation with patch‐matrix organisation, but there was no correlation with the distribution of calbindin immunoreactive cells, which are present in the matrix of the classical striosome‐matrix organisation. The pathological findings were unlike those in status marmoratus, perinatal hypoxia‐ischaemia, Huntington's disease, and neuroacanthocytosis, but similar to those reported in a 44‐year‐old man with predominantly cranial dystonia.
Influence of cholinergic system on myoclonus in myoclonic epilepsies
Authors: Rektor Ivan , Švejdová Milada , Silva‐Barrat Carmen , Menini Christian 
Published: January 2005

AbstractThe effect of two drugs upon multifocal myoclonic jerks was evaluated. The drugs influence the central cholinergic system in opposite ways. Eight patients with progressive and nonprogressive myoclonic epilepsy were tested. The single blind test was used. The number of myoclonic jerks after intravenous physostigmine (mean dose 0.02 mg/kg) and that after atropine (0.04 mg/kg) was compared to number of myoclonic jerks in the drug‐free periods and with placebo. Placebo was without an effect. Physostigmine slightly increased the number of jerks. Atropine decreased the number significantly. In most patients the results were not striking. It is suggested that the cholinergic system may participate in the physiopathology of the studied myoclonic in a rather indirect, perhaps modulating way.
Impairment of high‐contrast visual acuity in Parkinson's disease
Authors: Jones Richard D. , Donaldson Ivan M. , Timmings Paul L. 
Published: January 2005

AbstractSeveral studies have shown that the visual system is affected in Parkinson's disease (PD) with reduced contrast sensitivity, low‐contrast acuity, and flicker sensitivity, as well as altered electroretinograms (ERGs) and pattern visual evoked potentials (VEPs). Apparently, however, no study has yet specifically determined whether visual acuity to high‐contrast stimuli is impaired in PD. Visual acuity was measured in a group of 16 patients with PD, both on and off drugs (for 24 h), and 16 age‐ and sex‐matched normal control subjects. Acuity was impaired in the PD group both on standard Snellen chart and on a screen in a computerized test of visual resolution. The degree of impairment was 24 and 25%, respectively, in the two tests. The PD patients had marginally better acuity on both tests while receiving drugs, but the differences were not significant. The difference between the two groups was consistent with impaired resolution and could not be accounted for by any perceptual dysfunction that may also have been present in the PD group. Conversely, however, impaired acuity may be implicated in studies that have reported mild deficits of visuospatial/visuoperceptual function in PD. Reduced acuity appears to be a subtle sequela of dopaminergic deficiency in the visual system.
Effects of a selective partil D1 agonist, CY 208‐243, in de novo patients with Parkinson disease
Authors: Emre M. , Rinne U. K. , Rascol A. , Lees A. , Agid Y. , Lataste X. 
Published: January 2005

AbstractA selective dopamine D1‐receptor agonist, CY 208‐243, was administered to 23 de novo patients who had had Parkinson disease (PD) for ≤3 months. The drug was first used as monotherapy and then in some patients in combination with a dopamine D2‐receptor agonist, bromocriptine. Results showed that CY 208‐243 exerted a mild antiparkinsonian action, and tremor was the main symptom that consistently improved. The addition of bromocriptine ≤15 mg to CY 208‐243 did not result in additional improvement, but this might be due to the short duration of treatment and the low doses of bromocriptine. The study was prematurely discontinued for safety reasons. We conclude that D1‐receptor stimulation may result in improvement of motor disability in PD.
Intravenous boluses and continuous infusions of L‐DOPA methyl ester in fluctuating patients with Parkinson's disease
Authors: Stocchi F. , Ruggieri S. , Carta A. , Ryatt J. , Quinn N. , Jenner P. , Marsden C. D. , Agnoli A. 
Published: January 2005

AbstractIn six patients with Parkinson's disease exhibiting severe “on‐off” phenomena, a 200‐mg intravenous bolus of either L‐DOPA or of its methyl ester were equally effective in reversing motor deficits, although the duration of action of the methyl ester was shorter. There were no marked differences in phermacokinetic parameters for L‐DOPA plasma levels after administration of L‐DOPA and the methyl ester. In three patients, optimal infusion rates for the maintenance of mobility were established for L‐DOPA and L‐DOPA methyl ester. Both drugs were able to maintain patients “on” throughout a 12‐h infusion period. However, on average the optimal infusion rate of L‐DOPA methyl ester was 2.7 times greater than that for L‐DOPA. There was no marked difference in the plasma levels of L‐DOPA achieved, but 3‐O‐methyl DOPA levels increased more after infusion of L‐DOPA methyl ester than after infusion of L‐DOPA itself. The half‐life of elimination and volume of distribution of L‐DOPA formed form the methyl ester were markedly increased compared with values obtained after either an intravenous bolus of methyl ester or after an intravenous infusion of L‐DOPA itself. An intravenous bolus of L‐DOPA methyl ester produces an equivalent magnitude of clinical response to the same dose of L‐DOPA. However, higher optimal infusion rates of methyl ester than L‐DOPA are required to produce continuous effect. The pharmacokinetic handling of L‐DOPA methyl ester given by intravenous infusion may differ from that of L‐DOPA when given by the same route.
Dystonia following head trauma: A report of nine patients and review of the literature
Authors: Krauss Joachim K. , Mohadjer Mohsen , Braus Dieter F. , Wakhloo Ajay K. , Nobbe Fritz , Mundinger Fritz 
Published: January 2005

AbstractWe report nine patients who developed dystonia following head trauma. The most frequent form was hemidystonia only (six patients). One patient presented with hemidystonia plus torticollis, one with bilateral hemidystonia and one with torticollis only. Seven patients sustained a severe head injury, and two had a mild head injury. At the time of injury, six were younger than 10 years, two were adolescents, and the patient with torticollis only was an adult. Except in the patient with torticollis only, the onset of dystonia varied considerably from months to years. All patients with hemidystonia had posthemiplegic dystonia of delayed onset. Seven out of 8 patients with hemidystonia had lesions involving the contralateral caudate or putamen, as demonstrated by CT and MR. The patient with hemidystonia plus torticollis had no lesion to the basal ganglia, but a contralateral pontomesephalic lesion. Response to medical treatment was generally poor. Functional stereotactic operations were performed in seven patients. A variety of factors may be responsible for the vascular or nonvascular posttraumatic basal ganglia lesions, which may lead to dystonia. The pathophysiology seems to be more complex than thought previously. We believe that dystonia following head injury is not as rare as is assumed. Awareness of its characteristics and optimized diagnostic procedures will lead to wider recognition of this entity.
Postural axial tremor in a patient with cerebellar atrophy
Authors: Albanese A. , Daniele A. , Lo Monaco M. , Di Lazzaro V. , Restuccia D. , Milone M. , Tonali P. 
Published: January 2005

AbstractA patient affected by low‐frequency postural tremor of the trunk and limbs is reported. Apart from mild dysarthria and gait ataxia, no other neurological abnormalities were present. Cerebellar atrophy was demonstrated by means of magnetic resonance imaging. The tremor was associated with alternating activity in antagonistic muscles; it was triggered whenever a contraction of lumbar back extensor muscles occurred. Electrical stimulation of the cerebellum did not produce the normal suppression phases of motor responses evoked by a magnetic stimulation of the cerebral cortex.
Treatment of nonoccupational limb and trunk dystonia with botulinum toxin
Authors: Quirk J. A. , Sheean G. L. , Marsden C. D. , Lees A. J. 
Published: January 2005

AbstractWe report the results of treatment of 16 patients (14 women, two men; 18–81 years old) with nonoccupational limb and trunk dystonia with botulinum toxin A (BTX; Dysport). A total of 18 clinical problems were identified. Outcomes were assessed in terms of pain relief and improvement in posture and function by the combined observations of the patient and physician. Patients' satisfaction with treatment was high–the benefit in 15 of 18 problems was rated as good to excellent. Reduction in pain was achieved in nine of 10 painful problems, with total relief in four cases. Some normalisation of posture was obtained in 17 of 18; it was complete in three cases. Functional improvement was less common (10 of 18). Excessive weakness was the most common side effect, affecting five patients, but it was disabling in only two. We conclude that BTX can provide substantial benefit with minimal side effects in the majority of patients with these conditions, particularly with pain relief and postural improvements.
Hypokinesia in Huntington's disease
Authors: van Vugt Jeroen P. P. , van Hilten Bob J. , Roos Raymund A. C. 
Published: January 2005

AbstractMotor activity was quantitatively assessed over a period of 5 days using a wrist‐worn activity monitor in 14 patients with Huntington's disease (of whom 4 used neuroleptic drugs) and 14 age and sex‐matched healthy controls. Additionally, patients were rated for dementia, depression, clinical impairment of motor tasks, chorea, and disability. A significant decrease in daytime motor activity was observed in patients compared with controls, suggesting hypokinesia rather than hyperkinesia. Hypokinesia tended to be more severe in patients using neuroleptic drugs. Lower activity levels were significantly related to lower scores of functional disability, but not to other clinical measures. We conclude that hypokinesia is a prominent manifestation in Huntington's disease that is worsened by the use of neuroleptics.
Botulinum toxin injection into vocal cord in the treatment of malignant coprolalia associated with Tourette's syndrome
Authors: Scott Burton L. , Jankovic Joseph , Donovan Donald T. 
Published: January 2005

AbstractWe describe a 13‐year‐old boy with Tourette's syndrome (TS) manifested chiefly by severe coprolalia, obsessive compulsive disorder, and attention deficit hyperactivity disorder. He was treated with unilateral injections of botulinum toxin to the vocal cord and experienced marked improvement in coprolalia as well as marked reduction in the premonitory urges associated with the vocal tics and coprolalia. As a result of the improvement, the patient was able to attend school and church and was able to socialize. Botulinum toxin may interfere with a sensory reflex are required to perpetuate tics and coprolalia in TS, possibly by reducing local build‐up of tension or muscle contraction in affected areas.
Brain levels of thiamine and its phosphate esters in Friedreich's ataxia and spinocerebellar ataxia type 1
Authors: Bettendorff Lucien , Mastrogiacomo Frank , LaMarche Jacques , Diožić Slobodan , Kish Stephen J. 
Published: January 2005

AbstractDecreased blood and cerebrospinal fluid levels of thiamine have been reported in patients with spinocerebellar ataxia disorders. To determine whether a thiamine deficiency is present in the brain, we measured levels of thiamine and its phosphate esters thiamine monophosphate (TMP) and thiamine diphosphate (TDP), in postmortem cerebellar and cerebral cortices of patients with Friedreich's ataxia (FA) and spinocerebellar ataxia type 1 (SCA1). Brain levels of free (nonphosphorylated) thiamine, TMP, TDP, and total thiamine in FA and SCAI were, on average, not significantly different from control values. However, a nonsignificant trend was observed for slightly reduced levels of TDP and total thiamine in cerebellar cortex of the SCA1 patients, a finding that might be related to the severe neuronal damage in this brain area. We conclude that in FA, brain thiamine concentrations are normal, whereas in SCA1 the levels are, at most, only slightly reduced.
Centronuclear myopathy: Possible central nervous system origin
Authors: Serratrice G. , Pellissier J. F. , Faugere M. C. , Gastaut J. L. 
Published: January 2005

AbstractThe authors describe a case of myopathy characterized physically by limb weakness, eyelid ptosis, voluntary and reflex paralysis of vertical movements of gaze, and loss of deep tendon reflexes; and morphologically by the abnormal presence of centrally located nuclei in muscle fibers and type 1 fiber hypotrophy. The establishment in this case study of two particular findings–the probably nuclear or supranuclear ophthalmoplegia and the apparently impaired nuclear migration from the center of the muscle fiber toward its periphery–supports the hypothesis of a neuromuscular disorder whose level of severity depends on the degree of difficulty in the nuclear migration itself. This would be linked to a reduction in central nervous system influence.
Biochemical and physiologic consequences of carnitine palmityltransferase deficiency
Authors: Carroll James E. , Brooke Michael H. , DeVivo Darryl C. , Kaiser Kenneth K. , Hagberg James M. 
Published: January 2005

AbstractA patient with a long history of exercise‐induced pain developed myoglobinuria and respiratory failure following extensive exercise (football). Although muscle histochemistry was normal, tissue oxidation of 14Clabeled palmitate was decreased, and muscle carnitine palmityltransferase (CPT) activity was one‐tenth of normal. During fasting, his creatine kinase (CK) rose from 127 mu/ml to 278 mu/ml and blood ketones failed to exhibit a normal rise. Triglycerides were normal, as was fatty‐acid mobilization. Prolonged exercise resulted in an inordinately increased CK with only moderate elevations in lactate. Treatment with medium‐chain triglycerides did not alter his symptoms or improve exercise performance. Pain on exercise is a common complaint, but the occurrence of myoglobinuria points to a defect of energy metabolism. Screening for defects of fat utilization may be accomplished by the prolonged‐exercise test, invitro oxidation of 14C‐labeled substrates, and prolonged fasting.
Becker‐type muscular dystrophy
Authors: Bradley W. G. , Jones M. Z. , Mussini J‐M , Fawcett P. R. W. 
Published: January 2005

AbstractThis is a review of clinical, cardiologic, electrophysiologic, pathologic, and serum creatine kinase changes in eight families with slowly progressive X‐linked Becker‐type muscular dystrophy. All but one of the patients were able to walk until the age of 16 years, and most lived beyond 20. In every family, electromyography and muscle biopsy showed features which, on the basis of classical criteria, were interpreted as those of both myopathy and denervation, although among patients and among families, one or the other of these processes predominated. The most frequent biopsy picture was of fiber atrophy and hypertrophy, with many split and angulated fibers, and clumps of pyknotic nuclei. Necrosis, phagocytosis, regeneration, endomysial fibrosis, and some fatty infiltration were commonly seen. Review of a family originally described by Becker showed a similar biopsy picture. These pathologic changes are separable from those of Duchenne muscular dystrophy, but they often overlap with those seen in other chronic neuromuscular diseases.
Specificities of antibodies to acetylcholine receptors
Authors: Lindstrom Jon , Campbell Malcolm , Nave Barbara 
Published: January 2005

AbstractAntisera to acetylcholine receptor purified from the electric organs of Torpedo and Electrophorus were highly species specific, but showed limited cross‐reaction with receptors from all mammalian species tested. Antisera to receptor purified from rat muscle cross‐reacted extensively with receptor from the muscles of other mammals. Antibodies to receptor from Electrophorus cross‐reacting with receptor from Torpedo were affinity purified. Subsequently these showed increased cross‐reaction with receptor from mammalian muscle. Sera from patients with myasthenia gravis reacted best with receptor from human muscle, but such sera also cross‐reacted with receptor from other mammals, especially squirrel monkeys. These sera cross‐reacted slightly with receptor from Torpedo, but not detectably with receptor from Electrophorus.
Muscular dystrophy and activation of proteinases
Authors: Kar Nirmal C. , Pearson Carl M. 
Published: January 2005

AbstractEvidence is presented for the existence of many different systems of proteolytic enzymes in human skeletal muscle. These include the lysosomal system of cathepsins as well as proteinases and peptide hydrolases that are optimally active at neutral and alkaline pH ranges. The majority of proteolytic enzymes examined are found to show increased activity in dystrophic human muscle. Moreover, a high initial rise is observed in cathepsin B1, a thiol‐dependent endopeptidase of lysosomes, and in dipeptidyl peptidase IV, a membrane‐associated peptidase. In addition, a calcium‐activated neutral proteinase is found to be significantly elevated in muscle from patients with Duchenne dystrophy. The possible roles of these proteinases in intracellular protein catabolism and muscle wasting are discussed.
Lumbar plexus neuropathy resulting from retroperitoneal hemorrhage
Authors: Emery Scott , Ochoa Jose 
Published: January 2005

AbstractA case of lumbar plexus neuropathy occurring in the setting of heparin therapy is reported. Documentation of the site of a retroperitoneal hematoma by CT scan was made prior to the full clinical evolution of a lumbar plexus neuropathy resulting from a psoas‐muscle hematoma. Two patterns of retroperitoneal bleeding and their respective clinical manifestations are discussed. Early diagnosis of these syndromes may allow for intervention before neurologic compromise is established.
Electrophysiologic findings and prognosis in Bell's palsy
Authors: Boongird Prasert , Vejjajiva Athasit 
Published: January 2005

AbstractElectrophysiologic investigations were carried out on 45 patients with Bell's palsy at periodic intervals after the onset of paralysis. It was found that there was a good correlation between prognosis in Bell's palsy and the amplitude of evoked motor response obtained after six or more days of clinical paresis. When the average amplitude of evoked motor response was within normal limits (i.e., 504μV or greater), complete recovery with no residual deficits took place two to six weeks after the onset of facial palsy. When the evoked motor response was absent in all three major branches of the facial nerve, indicating complete nerve degeneration, electromyographic signs of recovery were apparent by the third or fourth month after the onset of paralysis. In these cases, recovery was relatively slow and incomplete, with some degree of residual deficit and synkinesis. Maximal return of voluntary facial movement was established 8 to 12 months after the initial symptom. When the mean amplitude of evoked motor response was below the lower limit of normal (i.e., less than 504μV), electromyographic signs of recovery were noted within 1 to 3 months, depending on the amplitude values. The final outcome of this intermediate group was similar, but not identical, to that of the previous group. The prognosis of facial paralysis in Bell's palsy was thus found to be directly related to the mean amplitude of evoked motor response, regardless of the extent of clinical paralysis.
Probable hypothyroid myopathy: Glycogendeficient type 2b fibers
Authors: Wheeler S. D. , Ochoa J. 
Published: January 2005

AbstractDescribed herein is a case of hypothyroid myopathy with selective atrophy and glycogen depletion of type 2b fibers shown by light and electron microscopy. Although the pathogenesis of such findings is obscure, it is possible that hypothyroidism in conjunction with a superimposed process might explain paradoxically glycogen‐deficient fibers.