bluuebunny/crossref_metadata_2025_split huggingface dataset:
Exclusion of the DYT1 locus in a non‐Jewish family with early‐onset dystonia
Authors: Bressman Susan B. , Hunt Ann L. , Heiman Gary A. , Brin Mitchell F. , Burke Robert E. , Fahn Stanley , Trugman Joel M. , de Leon Deborah , Kramer Patricia L. , Wilhelmsen Kirk C. , Nygaard Torbjoern G. 
Published: December 2004

AbstractThe DYT1 gene on chromosome 9q34 underlies idiopathic torsion dystonia (ITD) in Jewish and non‐Jewish families with childhood and adolescent‐onset dystonia that usually starts in a limb, spreads to other limbs, and uncommonly involves cranial muscles. We examined 39 members of a Mennonite family of German ancestry in which seven were affected with ITD. Age at onset was 14.7 years (range 5–34 years) and symptoms began in a limb in four. The remaining three had onset in the neck, face, and larynx. Dystonia progressed to involve at least one arm and one leg in all seven and there was cranial involvement in six. Five of these six had moderate or severe speech impairment. Linkage analysis with 9q34 markers excluded the region containing the DYT1 locus in this family. This study suggests that a gene other than DYT1 underlies some cases of early limb‐onset ITD. The clinical features of prominent cranial involvement and impaired speech distinguish this “non‐DYT1” early‐onset ITD family from the typical DYT1 phenotype.
Perturbation of precision grip in Friedreich's ataxia and late‐onset cerebellar ataxia
Authors: Hermsdöourfer Joachim , Wessel Karl , Mai Norbert , Marquardt Christian 
Published: December 2004

AbstractPerturbations of precision grip were tested in 7 patients with Friedreich's ataxia (FA) and 11 patients with late‐onset cerebellar ataxia (CA). Subjects were instructed to hold a small compressible manipulandum between thumb and index finger and to resist any perturbation of maintained finger position. A sudden increase of load induced a displacement of fingers until this was stopped by subjects' active intervention. The amount of initial displacement emerged as a highly sensitive parameter to differentiate the clinical subgroups: Responses in FA patients were missing or massively delayed, whereas displacements in CA patients were normal or only moderately abnormal. This discrimination of impaired hand function in FA and CA patients has not been possible by using only tasks of isometric grip force control. We concluded that our task relies more on intact sensory afferents, which are known to be impaired in FA, than on cerebellar function. In a second task the stiffness of the maintained grip was determined. On the average, preresponse stiffness was lower in FA patients as compared with CA patients and normal controls. However, stiffness appeared to be an independent parameter that did not influence the amount of displacement in the perturbation task.
The dopamine D1 agonist SKF 81297 and the dopamine D2 agonist LY 171555 act synergistically to stimulate motor behavior of 1‐methyl‐4‐phenyl‐1, 2, 3, 6‐tetrahydropyridine‐lesioned parkinsonian rhesus monkeys
Authors: Vermeulen R. J. , Drukarch B. , Sahadat M. C. R. , Goosen C. , Wolters E. C. , Stoof J. C. 
Published: December 2004

AbstractAt present, the pharmacotherapy of Parkinson's disease (PD) consists mainly of L‐dihydroxyphenylalanine (L‐DOPA) and/or dopamine D2 receptor agonist. However, in general the clinical efficacy of D2 agonists is less than that of L‐DOPA. Therefore, attention is being focussed on the role of the D1 receptor as a target for therapeutic intervention in PD. Recently, we reported that SKF 81297 is a selective D1 agonist that stimulates motor behavior of unilaterally MPTP (1‐methyl‐4‐phenyl‐1, 2, 3, 6‐tetrahydropyridine)‐lesioned rhesus monkeys. Presently, we studied the effect of coadministration of SKF 81297 and the D2 agonist LY 171555 using the same model of PD. Coadministration of behaviorally active doses of SKF 81297 (0.3 mg/kg) and LY 171555 (0.01 mg/kg) resulted in a prolongation of the motor stimulation induced by either of the drugs alone. Neither administration of SKF 81297, in a dose of 0.03 mg/kg, nor of LY 171555, in a dose of 0.003 mg/kg, were behaviorally active, whereas the combined administration of these compounds induced a significant stimulation of motor behavior. These data suggest that (a) D1 receptor stimulation will prove to be useful in the treatment of PD and (b) better therapeutic results will be obtained by simultaneous stimulation of D1 and D2 receptors as compared with stimulation of both receptors alone.
L‐Dihydroxyphenylalanine and its decarboxylase: New ideas on their neuroregulatory roles
Authors: Opacka‐Juffry Jolanta , Brooks David J. 
Published: December 2004

AbstractRecent experimental reports concerning L‐dihydroxyphenylalanine (L‐DOPA) and aromatic L‐amino acid decarboxylase (AADC, L‐DOPA decarboxylase) are reviewed in this article. Both in vitro and in vivo data now suggest that L‐DOPA is an endogenous neuroactive compound that is released from neurons and acts as a neurotransmitter or neuromodulator in the brain. Administration of exogenous L‐DOPA affects dopamine receptor status, AADC activity, and mitochondrial oxidation in experimental animals. The type and severity of these effects depend on the duration of the treatment. These findings may partly explain the limited efficacy of L‐DOPA therapy in Parkinson's disease (PD). AADC also plays a controlling role in the central nervous system, being a regulatory enzyme in the synthesis of a putative neuromodulator 2‐phenylethylamine and other trace amines. Recent experimental findings on AADC activity and localisation are of importance because they suggest that striatal [18F]DOPA uptake used as an indicator of PD progression in positron emission tomography (PET) studies is likely to overestimate nigrostriatal integrity in advanced PD. Possible new PET tracers of presynaptic dopaminergic function are discussed in this context.
CYP2D6‐debrisoquine hydroxylase gene polymorphism in multiple system atrophy
Authors: Planté‐Bordeneuve V. , Bandmann O. , Wenning G. , Quinn N. P. , Daniel S. E. , Harding A. E. 
Published: December 2004

AbstractMolecular genetic studies of the cytochrome P450 system enzyme CYP2D6, which hydroxylates debrisoquine, have indicated an excess of mutant alleles in large series of patients with Parkinosn's disease (PD) when compared with controls. We have investigated CYP2D6 polymorphism in 91 patients with multiple system atrophy (MSA) in order to determine if this finding is specific to PD or if there is similar evidence of genetic susceptibility to neurotoxicity in MSA. The distribution of CYP2D6 alleles was not significantly different between MSA patients and controls, and there were fewer poor metabolisers in the MSA group than in the control group.
n‐Hexane‐induced parkinsonism: Pathogenetic hypotheses
Authors: Pezzoli G. , Antonini A. , Barbieri S. , Canesi M. , Perbellini L. , Zecchinelli A. , Mariani C. B. , Bonetti A. , Leenders K. L. 
Published: December 2004

Abstractn‐Hexane, similar hydrocarbons, and derivatives are common environmental pollutants and by‐products of lipid peroxidation, and they may have a nigrotoxic effect like that of 1‐methyl‐4‐phenyl‐1, 2, 3, 6‐tetrahydropyridine. This report describes our second case of parkinsonism in a subject exposed to n‐hexane. Positron emission tomography studies demonstrated regional striatal abnormalities of the nigrostriatal dopaminergic system and of glucose metabolism that were different from those found in idiopathic Parkinson's disease.
Neuronal loss from the subthalamic nuclei in a patient with progressive chorea
Authors: Sinard John H. , Hedreen John C. 
Published: December 2004

AbstractWe present a case of an 80‐year‐old man who developed a seizure disorder at age 66 and was treated with chronic phenytoin. In the last 3 years of his life, he developed multiple neurological deficits, including bilateral chorea, ataxic gait, sensory neuropathy, and progressive dementia. After death from pneumonia, autopsy examination of the patient's brain was most remarkable for a selective loss of neurons from both subthalamic nuclei and Purkinje cell loss in the cerebellum. This pattern of injury is consistent with a toxic process and does not fit previously characterized pathological syndromes known to be associated with movement disorders or dementia or both. Phenytoin has been shown to cause choreiform movements, peripheral neuropathy, and cognitive decline in some patients, but the pathological basis for these changes has not been elucidated. The patient's chorea was very likely the result of neuronal loss in the subthalamic nuclei, but causes for his dementia and neuropathy were not found. The pathological findings may represent either an unusual form of chronic phenytoin toxicity or a previously undescribed primary degenerative brain syndrome.
Statistical prediction of the optimal site for thalamotomy in parkinsonian tremor
Authors: Lenz F. A. , Normand S. L. , Kwan H. C. , Andrews D. , Rowland L. H. , Jones M. W. , Seike M. , Lin Y. C. , Tasker R. R. , Dostrovsky J. O. , Lenz Y. E. 
Published: December 2004

AbstractStereotactic lesions in the thalamus for treatment of parkinsonian tremor are often made at the location where neurons fire at approximately tremor frequency (tremor cells). Some of these cells show a large amount of activity at tremor frequency and are significantly correlated with electromyographic activity (EMG) during tremor. Our analysis of cellular location identifies a cluster of neurons showing activity characterized both by concentration of power at tremor frequency and by significant correlation with EMG. In a retrospective analysis of results in 15 patients, lesions placed within 2 mm of the center of this cluster were uniformly effective in relieving tremor. Therefore, a small lesion targeting this cluster is effective in treatment of parkinsonian tremor.
“Off” painful dystonia in Parkinson's disease treated with botulinum toxin
Authors: Pacchetti C. , Albani G. , Martignoni E. , Godi L. , Alfonsi E. , Nappi G. 
Published: December 2004

AbstractThe “off” painful dystonia (OPD), usually concerning the feet, is a type of abnormal involuntary movement, induced by the chronic use of levodopa. It is mostly observed in the advanced stage of Parkinson's disease (PD), particularly in the early morning, in the evening, and late at night. Indeed, some patients have experienced OPD also during “on” periods when dystonic posture of the foot alternates with dyskinesia. The pain probably is due to sustained muscle contraction, which causes prolonged muscle spasm, as in primary dystonia or torticollis. Dopaminergic drugs like bromocriptine, pergolide, and especially apomorphine (s. c., infusions, or bolus), can dramatically improve the OPD. Anticholinergics baclofen and lithium are also used in the management of OPD with some benefit. On the other hand, clinical experience shows that in many cases, these therapeutic procedures are not always enough to produce the expected results. Thirty PD patients (22 men and eight women) with OPD of the foot were treated with botulinum toxin (Botox, Btx) using electromyograms to guide injections. Dystonia was evaluated using a quantitative rating scale. The selection of the muscles for Btx treatment was carried out on the basis of foot posture. We injected Btx into tibialis posterior, tibialis anterior, gastrocnemius, flexor digitorum longus, and extensores hallucis longus with a median dose 40 IU for each muscle, distributed in two sites. In all patients, the pain improved within 10 days, whereas in 21 patients, the pain disappeared completely for 4 months (range, 3–7 months); a concomitant improvement in intensity of the dystonic spasm was also observed. No side effects were reported. Seven patients with associated “on” foot dystonia described an improvement of foot posture on walking. In conclusion, in this uncontrolled study, the use of Btx in OPD seemed a promising tool to improve pain linked to foot dystonia; however, because of the well‐known underlying dopaminergic defect in OPD, the Btx therapy should be considered only if the dopaminergic treatment established for the management of OPD has failed.
Beneficial effect of intranasal desmopressin for nocturnal polyuria in Parkinson's disease
Authors: Suchowersky Oksana , Furtado Sarah , Rohs Gina 
Published: December 2004

AbstractPatients with Parkinson's disease (PD) are known to experience autonomic nervous system dysfunction; this disruptive symptomatology includes urinary urgency, frequency, and nocturnal polyuria. Anticholinergic and tricyclic medications can be beneficial in controlling these urinary symptoms, but have unpleasant side effects in some patients. Desmopressin has been used to treat nocturnal polyuria successfully in a number of conditions, such as central diabetes insipidus, enuresis, and autonomic failure. The purpose of the present study was to assess the efficacy of desmopressin in patients with PD with significant nocturia. Eight patients were recruited into the study. They were first asked to establish a baseline of number of nocturnal voids; the patients were then prescribed the intranasal form of desmopressin and asked to continue to record the number of nocturnal voids. The five patients who completed the trial demonstrated clinically and statistically significant reductions in the frequency of nocturnal voids. One patient became hyponatremic and confused during desmopressin administration; his symptoms resolved soon after the desmopressin was discontinued. Two patients failed to complete the trial due to compliance problems. Thus, desmopressin appears to be a safe and effective medication for nocturnal polyuria in PD.
Did Robert Schumann have dystonia?
Authors: de Yébenes J. García 
Published: December 2004

AbstractOccupational dystonia is a frequent clinical symptom in musicians and has been described as muscle spasms and hand cramps in pianists. Robert Schumann had a neurologica impairment of his right hand that was not clinically diagnosed during his life and that impaired his career as pianist from his early 20s. This disturbance was characterized by pain and by rigidity of the fingers, which extended to other segments of his right upper extremity while he was performing and that increased with stress and improved with muscle relaxation. This disturbance produced a progressive impairment of his writing. We here hypothesize that Schumann's neurological problem was consistent with dystonia.
Movement disorders in multiple sclerosis
Authors: Tranchant C. , Bhatia K. P. , Marsden C. D. 
Published: December 2004

AbstractMovement disorders (MD), other than tremor, associated with multiple sclerosis (MS) occur infrequently. We report 14 new cases of whom nine had dystonia, three parkinsonism, and two had myoclonus. We also reviewed 135 such cases from the literature. From an analysis of the individual MDs and the site of the lesions described, we conclude that paroxysmal dystonias (tonic spasms), ballism/chorea, and palatal myoclonus can be caused by demyelinating lesions. Parkinsonism, dystonia, and other types of myoclonus, however, often appear to be coincidental.
Pharmacokinetics and clinical efficacy of rectal apomorphine in patients with Parkinson's disease: A study of five different suppositories
Authors: van Laar T. , Jansen E. N. H. , Neef C. , Danhof M. , Roos R. A. C. 
Published: December 2004

AbstractThe pharmacokinetics and clinical effects of apomorphine after rectal administration were determined in five patients with idiopathic Parkinson's disease (PD). Three different pharmaceutical formulations were tested: a rectal solution of apomorphine (10 or 15 mg), a gelatin suppository (25 and 50 mg), and a Witepsol‐H15 suppository (50 and 100 mg). The pharmacokinetics of apomorphine were determined by measuring plasma concentrations using a sensitive and specific high‐performance liquid chromatography method. The mean bioavailability varied between 14.7% and 40.2%, which was the bioavailability until the end of clinical benefit. Also, despite the differences in dose, the values of the Cmax were similar, with average values of 12.7‐25.6 ng/ml. Wide differences in Tmax were observed, with values varying between 16 min for the enema and 127.5 min for the Witepsol‐H15 100‐mg suppository. The time course of the clinical effect was determined by assessing the time needed for walking a 25‐m course and by calculating a tremor and dyskinesia score. Onset of effect was similar for each of the preparations, with an average onset time of 14‐28 min. Significant differences with respect to the duration of the effect were observed. The duration of effect after administration of the Witepsol‐H15 100‐mg suppository was 156 ± 43 min versus 50 ± 13 min after rectal administration of the apomorphine solution. These results show that rectal administration of apomorphine may present an alternative to subcutaneous administration. The sustained‐release properties of the Witepsol‐H15 suppositories are especially of interest in the treatment of on‐off fluctuations in PD.
Prevalence of focal dystonias in the western area of Tottori Prefecture in Japan
Authors: Nakashima Kenji , Kusumi Masayoshi , Inoue Yuichi , Takahashi Kazuro 
Published: December 2004

AbstractWe evaluated the prevalence of focal dystonias in the western area of Tottori Prefecture in Japan. The population of the area was 244, 935 on October 1, 1992. Because four patients with blepharospasm and three patients with writer's cramp did not visit any hospitals or clinics in 1993 and did not reply to our question letter, we could not confirm their present condition: with or without focal dystonia in 1993. Four patients with facial dystonia including blepharospasm and oromandibular dystonia, seven with spasmodic torticollis, and four with writer's cramp were observed. The prevalence of focal dystonias was 6.12 per 100, 000 persons, which may be lower than that in western countries. Although the reasons for this difference are still unclear, a genetic factor may be one implication.
Binswanger's disease presenting as levodopa‐responsive parkinsonism: Clinicopathologic study of three cases
Authors: Mark M. H. , Sage J. I. , Walters A. S. , Duvoisin R. C. , Miller D. C. 
Published: December 2004

AbstractWe report three cases of autopsy‐proven Binswanger's disease (subcortical arteriosclerotic encephalopathy) with unusual clinical features. Two patients had supranuclear gaze disturbances, early gait dysfunction, and speech disorders suggestive of progressive supranuclear palsy. One of these patients was not demented at the time of death. The third patient had features typical of Parkinson's disease. All three patients were responsive to treatment with levodopa. The clinical spectrum of Binswanger's disease should be expanded to include levodopa‐responsive parkinsonism.
Reliance on advance information and movement sequencing in huntington's disease
Authors: Georgiou Nellie , Bradshaw John L. , Phillips Jim G. , Chiu Edmond , Bradshaw Judy A. 
Published: December 2004

AbstractTo identify the focus of impairment in the performance of sequential movements in Huntington's disease (HD) patients, the extent of their reliance on external advance information was examined. Twelve patients with HD and their age‐matched controls performed a series of button‐presses at sequential choice points along a response board. A sequential pathway was designated, and with each successive button press, advance visual information was systematically reduced to various extents in advance of each move. HD patients, like previously studied parkinsonian patients, were particularly disadvantaged with high levels of reduction in advance information, and as a consequence, both their initiation and execution of movements progressively slowed with each successive element in the response sequence. The pattern of results was not affected whether or not patients were taking neuroleptic medication, nor did performance on a variety of cognitive measures correlate with motor performance. Control subjects' performance, on the other hand, remained constant in terms of both initiation and execution with each of the three levels of reduction in advance information. We conclude that HD patients, like parkinsonian patients, who also suffer from a basal ganglia (BG) disorder, require external visual cues to sequence motor programs effectively. Our findings suggest that with HD there may be abnormalities in a central mechanism that controls switching between movement segments within an overall motor plan. The BG, which provide internal cues necessary for component sequenceing, may be disrupted, thereby impairing the ability to use such internally generated cues to guide movement.
A family with hereditary juvenile dystonia‐parkinsonism
Authors: Ishikawa Atsushi , Miyatake Tadashi 
Published: December 2004

AbstractWe report a family with autosomal dominant type hereditary juvenile dystonia‐parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing‐off phenomenon, and dopa‐induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia‐parkinsonism.
Cervical dystonia due to spinal cord ependymoma: Involvement of cervical cord segments in the pathogenesis of dystonia
Authors: Cammarota Angel , Gershanik Oscar S. , García Silvia , Lera Gabriel 
Published: December 2004

AbstractWe report a patient with a progressive motor disorder dominated by pyramidal signs in all four extremities and cervical dystonia in the form of torticollis, who had imaging features of cervical cord tumor on magnetic resonance imaging (MRI) scanning. Ependymoma was the final diagnosis by histology. Cervical dystonia presenting as a manifestation of an identified focal central nervous system (CNS) lesion is infrequent. We believe our patient to be the first adult example of cervical cord tumor giving rise to cervical dystonia. Adding this entity to the list of differential diagnosis of torticollis is considered, and its mechanisms are discussed.
Auctioneer's jaw: A case of occupational oromandibular hemidystonia
Authors: Scolding N. J. , Smith S. M. , Sturman S. , Brookes G. B. , Lees A. J. 
Published: December 2004

AbstractAn auctioneer is described in whom focal dystonia of the jaw developed as an occupational symptom, occurring solely and predictably when he commenced his selling “patter” and resolving quickly on stopping. He responded well to treatment with intramuscular botulinus toxin.
Reversible parkinsonism and dystonia following probable mycoplasma pneumoniae infection
Authors: Kim Jong S. , Choi Il S. , Lee Myoung C. 
Published: December 2004

AbstractInfectious disease is a rare cause of parkinsonism. We report a 7‐year‐old boy who developed flu‐like symptoms followed by parkinsonian features including hypophonia, hypomimia, bradykinesia, and dystonia. A T2‐weighted brain magnetic resonance imaging showed high singnal intensities in both basal ganglia. The results of serial serologic tests of Mycoplasma pneumonia antibody suggest that this movement disorder was associated with Mycoplasma pneumonia infection. The patient's symptoms gradually resolved, and the basal ganglionic lesions disappeared on follow‐up magnetic resonance imaging.