bluuebunny/crossref_metadata_2025_split huggingface dataset:
Reliability between two observers using a protocol for diagnosing essential tremor
Authors: Louis Elan D. , Ford Blair , Bismuth Bella 
Published: May 2005

AbstractProtocols with demonstrated reliability have been established for the diagnosis of numerous movement disorders, whereas in the essential tremor (ET) literature, there is no discussion about the reliability of diagnostic protocols. Lack of knowledge of the reliability of diagnostic protocols in ET limits the use of these protocols because reliability is an essential requirement for scientific quality in data management. The objective of this study was to determine the reliability of a protocol for diagnosing ET. The protocol consists of a Tremor Interview, a videotaped Tremor Examination, and a diagnostic algorithm. Eighty‐three subjects with ET, identified in a community‐based health study in Washington Heights‐Inwood, New York, were matched with 83 control subjects from the same community. These subjects and their relatives are being recruited to participate in the Washington Heights‐Inwood Genetic Study of ET. Two hundred twenty‐six subjects have been evaluated to date (35 ET cases, 40 controls, 151 relatives). All 226 underwent an 84‐item Tremor Interview and 26‐item videotaped Tremor Examination. Diagnoses (normal, possible ET, probable ET, definite ET) were independently assigned by two blinded neurologists specializing in movement disorders. The kappa statistic, k, was used to determine diagnostic agreement between these two neurologists. The concordance rate between two raters using diagnostic categories definite ET, probable ET, possible ET, and normal was 80%; kw = 0.84 (near perfect to perfect agreement). The concordance rate between two raters using two diagnostic categories (definite ET and normal) was 100%; k = 1.00 (perfect agreement). There was high correlation between the two rater's total tremor scores (r = 0.89, p < 0.00001). This diagnostic protocol is highly reliable. Research in ET would greatly benefit from diagnostic protocols with demonstrated reliability.
Diagnostic and pathophysiological aspects of psychogenic tremors
Authors: Deuschl Günther , Köster Bernd , Lücking Carl H. , Scheidt Carl 
Published: May 2005

AbstractPsychogenic tremor has become a rare movement disorder. Twenty‐five patients from our movement disorder unit presented either with obviously nonorganic body shaking during stance or with extremity tremors. A sudden onset and a variable but rarely remitting course of the condition was common. The “coactivation sign of psychogenic tremor” and absent finger tremor were the most consistent criteria to separate them from organic tremors. Quantitative analysis of tremor shows decreasing amplitudes in most organic tremors when the extremity is loaded with additional weights. In contrast, we found an increase of tremor amplitude for most of the cases with psychogenic tremor. This might be caused by increased coactivation to maintain the oscillation. These clinical and electrophysiological features suggest a clonus mechanism induced by coactivation as the pathophysiological basis of psychogenic extremity tremor. Psychiatric evaluation did not show overt signs of hysteria for the majority of the patients. However, we found depression and functional somatic or psychosomatic conditions to be frequent among the patients. A reduced ability to cope with stressful situations may play a significant role. The clinical course of the condition is usually far from benign. We conclude that psychogenic tremor can be positively diagnosed by means of neurologic signs in the majority of patients and is not only a diagnosis of exclusion. The poor outcome makes early and serious neuropsychiatric attempts at therapy necessary.
X‐linked dystonia‐deafness syndrome
Authors: Hayes Michael W. , Ouvrier Robert A. , Evans William , Somerville Ernest , Morris John G. L. 
Published: May 2005

AbstractWe report a family with early‐onset deafness and progressive dystonia exclusively involving males over two successive generations. There is also evidence of cognitive impairment and corticospinal tract involvement. The pedigree suggests an X‐linked inheritance. A similar family was originally described by Scribanu and Kennedy. Tranebjaerg et al. have recently reported two other families with linkage to Xq22 and also proposed a novel X‐linked candidate gene. These findings support the existence of a distinct neurodegenerative syndrome principally characterized by early‐onset deafness and progressive dystonia. Neuropathology of one case showed a mosaic pattern of neuronal loss and gliosis in the caudate and putamen suggesting that this pattern is not restricted to XDP or Lubag.
Increased activation of frontal areas during arm movement in idiopathic torsion dystonia
Authors: Diane Playford E. , Passingham Richard E. , David Marsden C. , Brooks David J. 
Published: May 2005

AbstractMost positron emission tomography (PET) studies of regional cerebral function in idiopathic torsion dystonia (ITD) have failed to show abnormalities, but there have been few studies of the changes in regional cerebral blood flow (rCBF) that occur during movement in dystonia. Using PET, we have studied six patients with familial generalized ITD both at rest and while moving a joystick with the right hand. The patterns of CBF change obtained were compared with those in six age‐matched control subjects. In the dystonia group, free selection of movement was associated with relative increases in rCBF above that observed in control subjects in the left premotor area, the supplementary motor area (SMA), the anterior cingulate cortex, and the left dorsolateral prefrontal area. Subcortical increases were observed within the cerebellum and the putamen. There was a relative decrease in flow through the contralateral primary sensorimotor cortex. These findings contrast with those reported in patients with Parkinson's disease undertaking the same task in which the activity in the SMA and putamen was decreased. We suggest that arm dystonia in ITD is associated with overactivity of the premotor areas, including the SMA, and that this results from release of the thalamus from the normal inhibitory influence of the globus pallidus internal segment. Other abnormalities of basal ganglia control of brain stem centers may be involved in axial dystonia.
Generalized chorea in two patients harboring the Friedreich's ataxia gene trinucleotide repeat expansion
Authors: Hanna Michael G. , Davis Mary B. , Sweeney Mary G. , Noursadeghi Madi , Ellis Christopher J. , Elliot Perry , Wood Nicholas W. , David Marsden C. 
Published: May 2005

AbstractRecently, a trinucleotide repeat expansion in intron l of the frataxin gene on chromosome 9p13 has been identified as the genetic defect in Friedreich's ataxia (FA). We have identified two patients exhibiting generalized chorea in the absence of cerebellar signs who were homozygous for this intron 1 expansion. Chorea as a rare manifestation of FA has previously been controversial. This is the first report of chorea in patients confirmed to have the FA genetic abnormality and broadens further the clinical phenotype associated with the FA genotype.
Functional improvement in a patient with cerebral calcinosis using a bisphosphonate
Authors: Loeb Jeffrey A. 
Published: May 2005

AbstractIdiopathic cerebral calcification can be associated with a progressive neurologic disorder for which there is no known treatment. This report describes a patient with a familial form of this disorder presenting in middle age with progressive Parkinson‐like features along with spasticity, dystonia, and ataxia. Disodium etidronate, a bisphosphonate, produced a twofold improvement in the rate of his speech and gait, but did not affect his spasticity, dystonia, or ataxia. Quantitative analysis of cerebral calcification did not reveal any reduction in the amount of calcification, suggesting other possible mechanisms for this clinical improvement.
Fetal nigral grafts survive and mediate clinical benefit in a patient with Parkinson's disease
Authors: Kordower Jeffrey H. , Freeman Thomas B. , Chen Er‐Yun , Mufson Elliott J. , Sanberg Paul R. , Hauser Robert A. , Snow Barry , Warren Olanow C. 
Published: May 2005

AbstractWe have previously demonstrated that fetal nigral grafts can survive, reinnervate the striatum, and mediate clinically relevant recovery in a patient with Parkinson's disease (PD).1 Most previous autopsy cases have failed to identify meaningful numbers of viable grafted cells suggesting that differences in critical transplant variables determine graft viability. 2–4 The present study evaluated the structural and functional correlates of fetal nigral transplantation in a second PD patient who received fetal nigral grafts according to our previously published transplant protocol. 5 A 61‐year‐old woman with severe PD received bilateral fetal nigral grafts to the post commissural putamen from seven donor fetuses (four right side and three left side) aged 6.5‐9 weeks postconception. This patient died 19 months after surgery from a cause unrelated to the transplant surgery. Her postoperative clinical course was characterized by improved motor and activities of daily living scores during “off time,” reduced “off time,” and increased “on” time without dyskinesia. Positron emission tomography (PET) scans revealed a bilateral and progressive increase in fluorodopa (FD) uptake within the grafted putamen. Postmortem examination of the right hemisphere revealed large ovalshaped grafts containing more than 138,000 tyrosinehydroxylase‐immunoreactive (TH‐ir) neurons. Grafted cells formed a seamless border with the host and provided dense TH‐ir innervation to 78% of the host postcommissural putamen. Graft‐mediated sprouting of host fibers was not observed. These data provide essential confirmation that, under appropriate transplant conditions, grafted nigral neurons can survive, reinnervate the host striatum, and provide clinical benefit to PD patients. These findings also support the concept that improved motor function and striatal FD uptake on PET after nigral grafting in PD are the result of the viability of grafted neurons and graft‐derived reinnervation of the host striatum.
A trial of dextromethorphan in parkinsonian patients with motor response complications
Authors: Metman Leo Verhagen , Blanchet Pierre J. , van den Munckhof Pepÿn , Dotto Paolo Del , Natté Remco , Chase Thomas N. 
Published: May 2005

AbstractThe effects of the NMDA antagonist dextromethorphan (DM) on levodopa‐associated dyskinesias and motor fluctuations were studied in patients with advanced Parkinson's disease. During initial open‐label dose escalation, 6 of 18 patients reported a beneficial effect at their individually determined optimal DM dose (range, 60–120 mg/day). The 12 remaining patients either experinced reversible side effects, particularly mild drowsiness, or decreased levodopa efficacy, and were therefore excluded from the study. The six responders entered the double‐blind, placebo‐controlled, crossover study with two 2‐week arms separted by 1 week wash‐out. On the last day of each arm, motor ratings were performed every 20 minutes for 8 consecutive hours. In addition, motor complications and Activities of Daily Living (ADL) were assessed using the Unified Parkinson's Disease Rating Scale (UPDRS) and patient diaries. With DM, dyskinesias improved by 25% according to physician's ratings and by 40% accfording to UPDRS interviews, without compromising the anti‐Parkinson effect of levodopa. Motor fluctuations and ADL scores also improved significantly. Although the narrow therapeutic index of DM limits its clinical usefulness, these findings support the view that drugs acting to inhibit glutamatergic transmission at the NMDA receptor can ameliorate levodopa‐associated motor complications.
Gait variability and basal ganglia disorders: Stride‐to‐stride variations of gait cycle timing in parkinson's disease and Huntington's disease
Authors: Hausdorff Jeffrey M. , Cudkowicz Merit E. , Firtion Renée , Wei Jeanne Y. , Goldberger Ary L. 
Published: May 2005

AbstractThe basal ganglia are thought to play an important role in regulating motor programs involved in gait and in the fluidity and sequencing of movement. We postulated that the ability to maintain a steady gait, with low stride‐to‐stride variability of gait cycle timing and its subphases, would be diminished with both Parkinson's disease (PD) and Huntington's disease (HD). To test this hypothesis, we obtained quantitative measures of stride‐to‐stride variability of gait cycle timing in subjects with PD (n = 15), HD (n = 20), and disease‐free controls (n = 16). All measures of gait variability were significantly increased in PD and HD. In subjects with PD and HD, gait variability measures were two and three times that observed in control subjects, respectively. The degree of gait variability correlated with disease severity. In contrast, gait speed was significantly lower in PD, but not in HD, and average gait cycle duration and the time spent in many subphases of the gait cycle were similar in control subjects, HD subjects, and PD subjects. These findings are consistent with a differential control of gait variability, speed, and average gait cycle timing that may have implications for understanding the role of the basal ganglia in locomotor control and for quantitatively assessing gait in clinical settings.
123I‐β‐CIT and 123I‐IBZM‐SPECT scanning in levodopa‐naive Parkinson's disease
Authors: Wenning Gregor K. , Donnemiller Eveline , Granata Roberta , Riccabona Georg , Poewe Werner 
Published: May 2005

AbstractStriatal dopamine transporter function and dopamine D2 receptor status were evaluated in 15 patients with early untreated Parkinson's disease using single photon emission tomography (SPECT) with 123I‐Iodo‐2β‐carboxymethoxy‐3β‐(4‐idiophenyl)tropane (β‐CIT) and 123I‐Iodobenzamide (IBZM) as pre‐ and postsynaptic ligands. Symptoms were unilateral in five patients and bilateral but asymmetric in 10 patients. Patients with bilateral symptoms had significantly lower 18‐hour striatal/cerebellar β‐CIT binding ratios (3.59 ± 0.79) than hemiparkinsonian patients (5.76 ± 1.48, p < 0.05) reflecting more advanced disease in this subgroup. Patients with bilateral parkinsonism were also found to have a significant side‐to‐side difference in striatal β‐CIT binding with more marked reduction contralateral to the presenting limb (18‐hour striatal/cerebellar ratio: 4.13 ± 0.78 [ipsilateral] versus 3.59 ± 0.79 [contralateral], p < 0.05). Dopamine D2 receptor binding as measured by IBZM was significantly elevated contralateral to the affected side in hemiparkinsonian patients (striatal/cerebellar ratio: 2.42 ± 0.90 [contralateral] versus 2.19 ± 0.80 [ipsilateral], p < 0.05). This asymmetric upregulation was absent in the patients with bilateral parkinsonism (striatal/cerebellar ratio: 1.85 ± 0.43 [contralateral to more severely affected side] versus 1.83 ± 0.34 [ipsilateral], p > 0.05). Our data suggest that postsynaptic dopamine receptor upregulation contralateral to the presenting side occurs in untreated unilateral PD and disappears in untreated bilateral (asymmetric) PD despite a greater loss of dopamine transporter function. Combined β‐CIT and IBZM SPECT studies may be helpful to monitor the progression of nigrostriatal dysfunction in early PD.
Cinnarizine‐induced parkinsonism: Ten years later
Authors: Martí‐Massó José F. , Poza Juan J. 
Published: May 2005

AbstractA retrospective study was carried out to investigate the evolution of patients diagnosed with cinnarizineinduced parkinsonism (CIP) over the past 15 years. A total of 74 cases of CIP were found among 172 patients with druginduced parkinsonism (DIP). Both CIP and other DIP were significantly more frequent in women. No clinical differences between CIP and other DIP were found. Most of the patients (66 of 74) completely recovered after cinnarizine withdrawal in 1–16 months. Eleven patients later developed Parkinson's disease; four of them had previously recovered. Five patients had tardive dyskinesia. CIP accounts for a high proportion of DIP referred to neurologists in populations in which cinnarizine is widely prescribed. The symptoms typically resolve after drug withdrawal, although complete recovery may take more than 1 year.
Double‐blind controlled trial of gabapentin in essential tremor
Authors: Pahwa Rajesh , Lyons Kelly , Hubble Jean P. , Busenbark Karen , Dierkes Rienerth J. , Pahwa Anokh , Koller William C. 
Published: May 2005

AbstractGabapentin has been reported to be effective for essential tremor (ET) based on open‐label trials. We studied gabapentin (1800 mg/day) and placebo in a double‐blind crossover design in 20 ET patients. Eighteen patients completed the study and two patients dropped out as a result of adverse effects which resolved when the medication was discontinued. Tremor was assessed at baseline and after 2 weeks of gabapentin and placebo treatment. One patient was mildly improved and another was moderately improved with placebo. Similarly, one patient reported mild improvement and another patient had marked improvement with gabapentin. All the remaining patients either reported no change or were worse with both treatment arms. There was no significant difference for total tremor score, hand tremor score, handwriting scores, or pouring scores. Sickness Impact Profile scores were no different between placebo and gabapentin. Our results suggest that as an adjuvant therapy in ET, gabapentin has limited benefit.
Hyperkinetic movement disorders misdiagnosed as tics in gilles de la tourette syndrome
Authors: Kompliti Katie , Goetz Christopher G. 
Published: May 2005

AbstractObjective: To describe the gamut of movements misdiagnosed as tic exacerbations in Gilles de la Tourette syndrome (GTS) in a referral tertiary‐care center.Background: Movements seen in GTS can be classified as: (a) tics; (b) movements related to conditions associated with GTS, specifically obsessive‐compulsive disorder (OCD), attention deficit hyperactivity disorder (ADHD), and antisocial behaviors; and (c) movements secondary to treatment.Methods: We reviewed a videotape database and patient records from a tertiary treatment center for GTS and collected GTS cases referred for disease exacerbation who had both tics and non‐tic movements thought by the referring physician, the patient, and the family to be an exacerbation of tics.Results: Of 373 GTS cases, 12 had movement disorders secondary to treatment, and six had non‐tic movements related to conditions commonly associated with GTS. In the former group, there were 7 patients with acute akathisia, 3 with acute dystonia, 1 with tardive chorea, 1 with withdrawal emergent chorea, and 5 with tardive dystonia. Six had movement disorders related to non‐tic conditions commonly associated with GTS: four patients had movements associated with OCD, one with ADHD and antisocial behavior, respectively.Conclusion: There is a broad spectrum of movements in GTS that are not tics but can be misdiagnosed as tics. Clinical awareness of these movements is paramount to proper diagnosis and pharmacologic intervention.
The effect of changes in head posture on the patterns of muscle activity in cervical dystonia (CD)
Authors: Buchman Aron S. , Comella Cynthia L. , Leurgans Sue , Stebbins Glenn T. , Goetz Christopher G. 
Published: May 2005

AbstractTwelve patients with cervical dystonia (CD) and predominant rotation were studied to determine the effects of changes in head posture on the specific patterns of cervical muscle activity. Turns analysis was used to quantify muscle activity underlying head rotation, recorded simultaneously from the agonist and antagonist muscle pairs bilaterally (sternocleidomastoid [SCM] and splenius [SPL]). Muscle activity was compared between the uncompensated dystonic posture and during the maintenance of midposition. In addition, patients were separated into two groups (geste = 6; no geste = 6) based on whether they had a clinically efficacious geste to determine the effect of geste on patterns of cervical muscle activity. Muscle activity was measured during the maintenance of midposition with and without a clinical or simulated geste. Differences in muscle activity between the groups and postures were compared using repeated measure analysis of variance (ANOVA) analyses. The four muscles tested showed a significant difference in muscle activity in the uncompensated dystonic posture as a result of the increased activity in the agonist muscle pair (SCM and SPL responsible for the dystonic posture) (EMG amplitude: F[1,11] = 18.81, p = 0.0012; EMG frequency: F[1,11] = 32.07, p = 0.0001). Maintaining the head in the midposition was associated with a significant reduction in muscle activity compared with the uncompensated dystonic posture (EMG amplitude: F[1,9] = 6.36, p < 0.033; EMG frequency: F[1,9] = 10.96, p < 0.0091). This reduction in midposition muscle activity was significantly greater in the agonist muscle pair (EMG amplitude: F[1,10] = 19.70, p = 0.0013; EMG frequency: F[1,10] = 44.67, p < 0.0001). In the patients with clinically effective geste, there was no additional reduction in muscle activity observed in the midposition when they performed their geste (EMG amplitude: F[1,9] = 4.63, p = 0.060; EMG frequency: F[1,9] = 1.22, p = 0.298). These findings suggest that CD with rotation is characterized by predominantly increased agonist muscle activation. Patients with CD retain the ability to modulate this involuntary agonist muscle activity to maintain the head in the midposition. The maintenance of the midposition does not seem to be facilitated by geste.
Cerebral and cerebellar activation in correlation to the action‐induced dystonia in Writer's cramp
Authors: Odergren Tomas , Stone‐Elander Sharon , Ingvar Martin 
Published: May 2005

AbstractThe pattern of brain perfusion of four patients with writer's cramp and four control subjects were examined using positron emission tomography scans after [15O] butanol injections. Each subject was scanned 12 times to cover three repetitions of four different motor tasks with the right hand. Drawing of horizontal lines and variable durations of the writing of a prelearned text were performed in a pseudorandom order, the latter task commencing either simultaneously with or 30 sec or 120 sec before the tracer injection. The perceived difficulty and signs of dystonia progressed in correlation to the duration of writing. Statistical parametric maps were calculated to test hypotheses of regional specific effects dependent on the performed motor tasks. The patients with writer's cramp had progressively increased activity in the left primary sensorimotor and premotor cortices, the left thalamus, and the cerebellum with a right‐side predominance in correlation to the duration of writing. The regions with activity increases thus corresponded to a cerebrocerebellar motor circuit. The duration of writing correlated to a progressive reduction of activity in the patients'left supramarginal and angular gyri (Brodmann areas 40 and 39) and an inferior part of the left temporal lobe (area 20). The control subjects had neither a significant increase or decrease of activity in correlation to the duration of writing. Group‐specific differences were confirmed statistically in split‐plot interaction analyses.