bluuebunny/crossref_metadata_2025_split huggingface dataset:
A new tremor mutant in the pietrain pig: An animal model of orthostatic tremor? Clinical and neurophysiological observations
Authors: Wissel Jörg , Harlizuis Barbara , Richter Angelica , Löscher Wolfgang , Schelosky Ludwig , Scholz Udo , Poewe Werner 
Published: May 2005

AbstractA new tremor mutant, the “Campus syndrome” was studied in a breed of Pietrain pigs. Affected pigs showed a coarse tremor of the extremities when standing and walking, so they tended to remain recumbent, during which the tremor was suppressed. Needle electromyographic recordings of the semitendinosus muscle plus accelerometry revealed a high‐amplitude 14‐ to 15‐Hz tremor pattern activated specifically upon standing but maintained during walking. The observed syndrome thus bears similarities to the human condition of orthostatic tremor and might serve as an animal model for this as yet poorly understood disorder.
Concordance of common movement disorders among familial cases
Authors: Rajput A. H. , Fenton M. E. , George D. , Rajput Alex , Wilson W. , McCulloch L. 
Published: May 2005

AbstractMulticase families are frequently utilized in studies of movement disorders (MDs). We report families with two or more MD cases seen at the Movement Disorder Clinic, Saskatoon (MDCS). In 30% of the MD probands, there was either a history or documentation of at least one secondary MD case in the family. Only those MD cases that were seen at the MDCS were considered in this study. A total of 56 probands and 77 secondary MD cases were seen at the MDCS between 1968 and 1996. In 24 (31.2%) of the secondary cases, the diagnosis was different from that in the proband. In 46 families (82%), only one secondary case was seen, and the diagnosis was concordant with the proband in 71.7%. In the remaining 10 families with two or more secondary cases, the diagnosis was concordant in 64.5% of cases. The largest subgroup was Parkinson's disease (PD)—40 probands and 53 secondary cases. Of these secondary cases, 73.6% had PD. The concordance rate was 91% in essential tremor, but only 12.5% if the proband had essential tremor + parkinsonism. Considering that a large proportion of secondary cases have a diagnosis discordant with the proband, we recommend that, wherever possible, MD diagnosis in secondary cases be based on clinical assessment.
Bilateral posteroventral pallidotomy in advanced parkinson's disease in three patients
Authors: Schuurman P. Richard , de Bie Rob M. A. , Speelman Johannes D. , Bosch D. Andries 
Published: May 2005

AbstractIn this report, we describe the effect of staged bilateral posteroventral pallidotomy in three patients with advanced Parkinson's disease who were all of the young‐onset type. Two patients had developed response fluctuations after the use of levodopa, with severe hypokinesia, painful dystonia, and rigidity in the “off” phase and violent dyskinesias in the “on” phase. One patient, in a continuous hypokinetic rigid state, was totally unresponsive to dopaminergic medication. All were at Hoehn and Yahr stage 5 in the “off” phase before surgery. After surgery, the hypokinetic state was reversed and dyskinesias were abolished in all patients. Hoehn and Yahr stages were 3 in the “off” phase postoperatively. Overall functional improvement was marked and lasting after follow‐up for 7, 12, and 13 months, respectively. Complications were visual field deficit and transient central facial paresis, both in the same patient. Bilateral posteroventral pallidotomy can ameliorate response fluctuations, hypokinesia, rigidity, and painful dystonia in advanced Parkinson's disease.
Association of a polymorphism in the dopamine‐transporter gene with parkinson's disease
Authors: le Couteur David G. , Leighton Peter W. , McCann Sally J. , Pond Susan M. 
Published: May 2005

AbstractThe presynaptic dopamine transporter in nigral dopaminergic neurons confers susceptibility to the cytotoxic effects of the neurotoxic metabolite of 1‐methy1‐4‐phenyl‐1,2,3,6‐tetrahydropyridine. Polymorphisms in the dopamine transporter might influence the susceptibility to such toxins. Therefore, we investigated whether a polymorphic region in the 3′‐untranslated region of the dopamine‐transporter gene is associated with idiopathic Parkinson's disease (PD). The frequency distribution of the alleles was significantly different between the patients (n = 100) and controls (n = 200, p < 0.05). The rare 11‐copy allele was more common in the patients (odds ratio = 10.2, 95% confidence interval = 1.2‐87.9, p < 0.025). The susceptibility of some people to PD may be conferred by polymorphisms in the dopamine‐transporter gene that could lead to increased cellular accumulation of neurotoxic compounds in dopaminergic neurons.
Tics secondary to craniocerebral trauma
Authors: Krauss Joachim K. , Jankovic Joseph 
Published: May 2005

AbstractWe describe three adult patients who presented with multifocal motor and vocal tics secondary to craniocerebral trauma. In one case, the tics were accompanied by marked obsessive‐compulsive behavior. All patients were involved in motor vehicle accidents resulting in closed craniocerebral trauma. The latency of onset between head trauma and the movement disorder varied between 1 day and a few months. Magnetic resonance imaging, which was performed in all three patients, did not detect any structural lesions of the basal ganglia or the brainstem. Extensive bifrontal leukoencephalopathy was found in one patient who suffered severe head trauma.
Mosaic pattern of gliosis in the neostriatum of a north american man with craniocervical dystonia and parkinsonism
Authors: Factor Stewart A. , Barron Kevin D. 
Published: May 2005

AbstractWe present the case of a 51‐year‐old patient with a 31‐year history of psychiatric symptoms, craniocervical dystonia, bulbar dysfunction, and parkinsonism. His dystonic movements included blepharospasm, jaw opening and lingual dystonia, and spasmodic retrocollis. Psychiatric symptoms included psychosis and depression, with onset years before the movement disorder. After his death by aspiration, examination of his brain revealed abnormalities limited to the neostriatum. Staining of brain sections, including Holzer, glial fibrillary acidic protein, and immunohistochemical stain for calbindin D28k, revealed the presence of a mosaic pattern of gliosis with neuronal loss (sparing large neurons) within this region. The islands of tissue between strands of gliosis had a normal appearance. This patient represents only the fourth case (and first North American born) with a mosaic pattern of gliosis in the neostriatum. The clinical and pathologic features were similar in all four cases except that our patient was the first with prominent psychiatric symptoms and a more stable, less progressive course. Mosaicism has been described in the X‐linked Filipino disorder Lubag. Occurrence in non‐Filipino patients, such as ours, suggests that either Lubag can develop in non‐Filipino families or that mosaicism is a nonspecific pathologic finding in some patients with idiopathic dystonia. Finally, our case supports the notion that craniocervical dystonia may result from neostriatal dysfunction.
A gene (ETM) for essential tremor maps to chromosome 2p22‐p25
Authors: Higgins Joseph J. , Pho Lana T. , Nee Linda E. 
Published: May 2005

AbstractWe report the results of linkage analysis in a large American family of Czech descent with dominantly inherited “Pure” essential tremor (ET) and genetic anticipation. Genetic loci on chromosome 2p22‐p25 establish linkage to this region with a maximum LOD score (Zmax) = 5.92 for the locus, D2S272. Obligate recombinant events place the ETM gene in a 15‐cM candidate interval between the genetic loci D2S168 and D2S224. Repeat expansion detection analysis suggests that expanded CAG trinucleotide sequences are associated with ET. These findings will facilitate the search for an ETM gene and may further our understanding of the human motor system.
Health‐related quality of life in parkinson's disease: A study of outpatient clinic attenders
Authors: Fitzpatrick Ray , Peto Viv , Jenkinson Crispin , Greenhall Richard , Hyman Nigel 
Published: May 2005

AbstractObjective: To assess the validity and responsiveness of a questionnaire to assess health‐related quality of life in Parkinson's disease (PD)—the 39‐item Parkinson's Disease Questionnaire (PDQ‐39)—and to report problems experienced by patients by means of the questionnaire.
Tolcapone added to levodopa in stable parkinsonian patients: A double‐blind placebo‐controlled study
Authors: Dupont Erik , Burgunder Jean‐Marc , Findley Leslie J. , Olsson Jan‐Edvin , Dorflinger Ernest ,   Tolcapone In Parkinson's Disease Study Group Ii (TIPS Ii)
Published: May 2005

AbstractThe primary objective of this study was to assess the effect of tolcapone on levodopa dosage in parkinsonian patients whose “wearing‐off” phenomenon has been controlled with more frequent levodopa dosage. After a 1‐week placebo run‐in, 97 patients were assigned randomly to receive placebo or tolcapone 200 or 400 mg three times daily (t.i.d.). Levodopa dosage was reduced by −35% on day 1 of study and subsequently retitrated as required. After 6 weeks, the tolcapone groups crossed over to receive the other dose for a further 3 weeks for exploratory purposes. Both tolcapone groups had greater reductions in levodopa dosage than the placebo group at week 6 (not statistically different). The 200‐mg t.i.d. group showed greatest improvement in estimated mean scores for all efficacy parameters (p < 0.05 versus placebo for change in Unified Parkinson's Disease Rating Scale Subscale II). Fewer dopaminergic and nondopaminergic adverse events were associated with tolcapone 200 mg t.i.d. than with tolcapone 400 mg t.i.d. The most frequently reported dopaminergic adverse events were nausea, cramps, dyskinesia, and dystonia. The most frequently reported unanticipated adverse event was diarrhea. Tolcapone 200 mg t.i.d. may provide additional benefit to patients with moderately advanced Parkinson's disease with treated “wearing‐off” phenomenon.
Entacapone enhances levodopa‐induced reversal of motor disability in MPTP‐treated common marmosets
Authors: Smith Lance A. , Gordin Ariel , Jenner Peter , Marsden C. David 
Published: May 2005

AbstractOral administration of levodopa (L‐dopa) (2.5–25.0 mg/kg) plus carbidopa (12.5 mg/kg p.o.) to MPTP‐treated common marmosets produced a dose‐related increase in locomotor activity and a corresponding decrease in motor disability. Pretreatment with the peripheral COMT inhibitor entacapone (12.5 mg/kg p.o.) enhanced the intensity and duration of the increase in locomotor activity and the reversal of motor disability produced by a threshold dose of L‐dopa (2.5 mg/kg p.o.) plus carbidopa. By contrast, entacapone pretreatment did not potentiate the increased locomotor activity or reversal of motor disability produced by a near‐maximal dose of L‐dopa (12.5 mg/kg p.o.) plus carbidopa. The effects of entacapone (5.0–25.0 mg/kg p.o.) were dose related, with doses of >12.5 mg/kg tending to produce less potentiation of L‐dopa's effects compared to lower doses. Pretreatment with entacapone (12.5 mg/kg p.o.) without carbidopa caused a short‐lasting enhancement of L‐dopa's (12.5 mg/kg p.o.) action, whereas pretreatment with carbidopa (12.5 mg/kg p.o.) alone had a more dramatic effect. However, pretreatment with both carbidopa and entacapone produced the greatest overall motor response. In conclusion, entacapone enhances the motor response produced by a low threshold dose of L‐dopa plus carbidopa. However, optimization of both the dose of L‐dopa and entacapone appears necessary to obtain the maximal therapeutic response.
Constipation in parkinson's disease: Objective assessment and response to psyllium
Authors: Ashraf Waseem , Pfeiffer Ronald F. , Park Faye , Lof John , Quigley Eamonn M. M. 
Published: May 2005

AbstractWe evaluated the reliability of patient history and the effect of psyllium on symptoms and colorectal function in 12 patients with Parkinson's disease (PD) and constipation. In all but two, constipation anteceded the development of parkinsonian symptoms. A comparison with prospectively obtained stool diaries confirmed the patients' reported constipation in 7 of the 12 patients. Those patients with confirmed constipation had lower stool weights and reported more straining at stool. Measures of colonic and anorectal function were similar in those who were truly constipated and those who were not. Among those PD subjects with confirmed constipation, psyllium increased stool frequency and weight but did not alter colonic transit or anorectal function. We conclude that prospectively obtained stool diaries should be employed to confirm constipation in PD and that psyllium produces both subjective and objective improvements in constipation related to PD.
Clinical expression of essential tremor: Effects of gender and age
Authors: Hubble J. P. , Busenbark K. L. , Pahwa R. , Lyons K. , Koller W. C. 
Published: May 2005

AbstractEssential tremor (ET) is considered to be a monosymptomatic disorder consisting primarily of postural hand tremor. Nevertheless, clinical expression can vary based on the body region affected by tremor and the coexistence of other neurologic signs, such as tandem gait disturbance. We conducted a two‐part study to test the hypothesis that variability in ET clinical expression is influenced by gender and age. In part 1, we examined a large ET clinical database (n = 450), comparing ratings of postural hand and head/voice tremor based on gender. Head/voice tremor was significantly more frequent and more severe among female ET patients; men had more severe postural hand tremor. In part 2, ET patients (n = 40) had significantly more missteps when tandem walking in comparison to age‐matched controls. Poor tandem walk in ET cases was associated with more advanced age, but not gender, disease duration, or ratings of postural hand or head/voice tremor. We conclude that gender influences the body region most affected by ET possibly through the effects of the sex chromosomes or hormones. Ataxia (tandem gait difficulty) is common in ET and may be an accentuation of cerebellar dysfunction due to aging.
Cerebellar axial postural tremor
Authors: Brown P. , Rothwell J. C. , Stevens J. M. , Lees A. J. , Marsden C. D. 
Published: May 2005

AbstractThree cases are presented with a predominantly axial postural tremor, without visible palatal tremor. Tremor varied in frequency between 3 and 10 Hz, often jumping from one frequency to another in this band. All three patients had evidence of cerebellar pathology. Cases 1 and 2 developed tremor in the setting of a lateLondon, Englandonset cerebellar degeneration and after excision of a right cerebellar haemangioblastoma, respectively. Etiology was unclear in Case 3. Nevertheless, this patient had a cerebellar dysarthria. The tremor was similar to that sometimes seen in conjunction with palatal tremor, and EMG studies in Case 3 demonstrated a subclinical modulation of palatal muscle activity simultaneous with the truncal tremor. It is suggested that an axial postural tremor may be due to pathology of the cerebellum and its outflow pathways, despite the absence of clinically apparent palatal tremor.
Analysis of action tremor and impaired control of movement velocity in multiple sclerosis during visually guided wrist‐tracking tasks
Authors: Liu Xuguang , Miall R. Christopher , Aziz Tipu Z. , Palace Jackie A. , Haggard Patrick N. , Stein John F. 
Published: May 2005

AbstractWe investigated the relationship between action tremor (AT) and impaired control of movement velocity (MV) in visually guided tracking tasks, in normal subjects and in patients with multiple sclerosis (MS) with or without motor deficits. The effects of withdrawing visual feedback of either the target or the cursor were then investigated. Visually cued simple reaction times (SRTs) were also measured. The effects of thalamotomy on motor performance in these tasks were evaluated in seven patients. In the MS patients with tremor, there was no correlation between AT and impairment in control of MV, but the latter was highly correlated with an increased delay in SRT. Withdrawal of visually guiding cues increased the error significantly in MV, but reduced AT by −30% in magnitude. Frequency analysis indicated that the AT had two components: (a) non‐visual‐dependent, oscillatory movements, mainly at 4 Hz; and (2) visual‐dependent, repetitive movements, with significant power at 1–2 Hz. Thalamotomy significantly reduced AT but hardly improved accuracy in MV. These results suggest that visual feedback of a spatial mismatch signal may provoke a visually dependent repetitive movement contributing to AT. Conduction delays along either the corticocerebello‐cortical or the proprioceptive pathways and impaired working memory caused by MS may be responsible for the movement disorders in these patients.
Frequency of familial inheritance among 488 index patients with idiopathic focal dystonia and clinical variability in a large family
Authors: Leube Barbara , Kessler Kirn R. , Goecke Timm , Auburger Georg , Benecke Reiner 
Published: May 2005

AbstractIdiopathic torsion dystonia is characterized by involuntary twisting movements and postures. One molecularly defined form with generalized dystonia has been shown to be autosomal dominantly inherited with reduced penetrance in chromosome 9q34.1, especially in Ashkenazi Jewish families, while other generalized families from Europe and families with other subtypes of dystonia have been excluded from linkage to this locus. Genealogical studies suggest that the much more frequent focal dystonia follows an autosomal dominant inheritance with reduced penetrance as well. For our study, 488 patients with focal dystonia, without a tendency for generalization, were interviewed for their family history. Evidence for hereditary disposition was found in 88 individuals. In a second step, all available family members of 17 of the 488 index patients (chosen for cooperation) were clinically examined. Objective diagnosis of affected relatives was established in 13 families, whereas only 4 of the 17 index patients had previously admitted a positive family history. Furthermore, a large threegeneration family with focal dystonia linked to chromosome 18p (linkage data described elsewhere) was identified. The familial pattern of all reported families is compatible with autosomal dominant inheritance with reduced penetrance. Assessment only on patients' report leads to underestimation of the frequency of familial idiopathic focal dystonia.
Paroxysmal exercise‐induced dystonia: Eight new sporadic cases and a review of the literature
Authors: Bhatia Kailash P. , Soland Valerie L. , Bhatt Mohit H. , Quinn Niall P. , Marsden C. David 
Published: May 2005

AbstractWe report eight new sporadic cases of paroxysmal dystonia induced by prolonged or sustained exercise and review an additional seven previously reported cases. The attacks in our patients lasted from a few minutes to up to 2 h, and patient age at onset ranged from 2 to 30 years. Four of the eight patients had hemidystonic attacks, both legs were involved in two other cases, and the remaining two patients had involvement of the right foot only. We propose that such cases should be classified as paroxysmal exercise‐induced dystonia.
DYSBOT: A single‐blind, randomized parallel study to determine whether any differences can be detected in the efficacy and tolerability of two formulations of botulinum toxin type A—Dysport and Botox—assuming a ratio of 4:1
Authors: Sampaio Cristina , Ferreira Joaquim J. , Simões Fernanda , Rosas Maria J. , Magalhães Marina , Correia Ana P. , Bastos‐Lima António , Martins Rairnundo , Castro‐Caldas Alexandre 
Published: May 2005

AbstractBackground: Elston and Russell discovered a difference in the biological potency of the English formulation of botulinum toxin type A or BTX‐A (Dysport) and the American formulation (Botox). Potency of both is expressed in LD50 mouse units, but because of assay differences, these units are not equivalent. Since the first warning by Quinn and Hallet on the clinical importance of this issue, it has been impossible to reach a consensus on the conversion factor for the potency of these formulations.Objective: To test the hypothesis that the conversion factor
for the clinical potency of Dysport to Botox is approximately 4.1. DYSBOT is an acronym that results from adding “DYS” from Dysport with “BOT” from Botox.Patients and Methods: Design: A single‐blind, randomized, parallel comparison. A total of 91 patients with blepharospasm or hemifacial spasm were randomized to treatment with Dysport or Botox using a fixed potency ratio of 4:1. Clinical evaluations: The patients were evaluated at baseline (day of the treatment), 1 month after treatment, and whenever the effect was judged to be fading. Objective and functional rating scales were used as quantitative measures of the change in clinical status. Adverse reactions were collected using a systematic questionnaire.Results: Using this ratio between products, both Dysport and
Botox groups produced similar clinical efficacy and tolerability. For patients showing a positive response without the need of a booster, the duration of effect was 13.3 ± 5.9 weeks for the Dysport group and 11.2 ± 5.8 weeks for the Botox group. Of 48 patients, 11 (23%) needed booster treatment in the Dysport group compared with five (12%) of 43 in Botox group. Adverse events were noted in 24 (50%) of 48 patients in the Dysport group and 20 (47%) of 43 of the Botox‐treated group.Conclusions: Using a 4:1 conversion ratio for Dysport and Botox, similar results were obtained for the two treatments in an appropriately powered study, suggesting that this conversion factor is a good estimate of their comparative clinical potencies.
Analysis of blink rate patterns in normal subjects
Authors: Bentivoglio Anna Rita , Bressman Susan B. , Cassetta Emanuele , Carretta Donatella , Tonali Pietro , Albanese Alberto 
Published: May 2005

AbstractThe present study measured the normal blink rate (BR) variations in relation to behavioral tasks in 150 healthy volunteers (70 males and 80 females; aged 35.9 ± 17.9 years, range 5–87 years). The subjects were videotaped in a standard setting while performing three different tasks: resting quietly, reading a short passage, talking freely. The mean BR was computed during each task; the data were compared by means of analysis of variance and Student's t tests. Mean BR at rest was 17 blinks/min, during conversation it increased to 26, and it was as low as 4.5 while reading. As compared with rest, BR decreased by −55.08% while reading (p < 1 × 1015) and increased by 99.70% during conversation (p < 1 × 109). As compared with reading, BR increased during conversation by 577.8% (p < 1 × 10 17). The distribution curves were highly reproducible in each task. The best curve fit was represented by a long‐normal distribution, with the upper tail of each curve having a normal distribution. Eye color and eyeglass wearing did not influence BR. Women had higher BR than men just while reading. No age‐related differences were found. The most common BR pattern was conversation > rest > reading, which occurred in 101 subjects (67.3%); 34 subjects (22.7%) had the pattern rest > conversation > reading; 12 (8.0%) had the pattern conversation > reading > rest. This study identified three normal behavioral BR patterns and showed that BR is more influenced by cognitive processes than by age, eye color, or local factors. The present findings provide a normal reference for the analysis of BR in movement disorders such as dystonia or tics.