bluuebunny/crossref_metadata_2025_split huggingface dataset:
Ethnic variation in the clinical expression of idiopathic torsion dystonia
Authors: Almasy Laura , Bressman Susan , de Leon Deborah , Risch Neil 
Published: May 2005

AbstractAlthough childhood, limb‐onset idiopathic torsion dystonia (ITD) is at increased prevalence among Jews, and Ashkenazi Jews with this form of ITD show linkage disequilibrium for a unique haplotype, little else is known about phenotypic or genetic variation in ITD among ethnic groups. We assessed clinical features in 786 ITD patients and determined the relative frequencies of various clinical forms of ITD in the major ethnic groups. Several differences in age‐at‐onset and site‐at‐onset distributions among groups were demonstrated. As expected, Ashkenazi Jews had an earlier age‐at‐onset distribution than did non‐Jewish Caucasians. In the early‐onset group, Jews were less likely to have cervical onset and more likely to have onset in the limbs than were non‐Jewish Caucasians (p < 0.01). Among late‐onset cases, Jews had less cervical onset and more cranial onset than did non‐Jewish Caucasians (p < 0.01). African‐Americans showed suggestive differences in both age at onset and site at onset as compared with the two Caucasian groups, with an intermediate age at onset, a deficit of leg onset, and an excess of cranial and larynx onset. Subgroups of non‐Jewish Caucasians showed no significant differences from each other. The observed ethnic variations in age at onset and site at onset of ITD suggest population differences in disease‐causing alleles or loci. However, environmental influences on expression of ITD can not be excluded.
Proton magnetic resonance spectroscopy in steele‐richardson‐olszewski syndrome
Authors: Davie Charles A. , Barker Gareth J. , Machado Christine , Miller David H. , Lees Andrew J. 
Published: May 2005

AbstractProton magnetic resonance spectroscopy, localized to the lentiform nucleus, was carried out in nine patients with a clinical diagnosis of Steele‐Richardson‐Olszewski syndrome (SRO) and in eight healthy age‐matched controls. Three of the nine SRO patients had a so‐called “eye of the tiger sign” with high signal in the globus pallidus surrounded by a ring of low signal on T2 weighted magnetic resonance imaging previously only reported in Hallervorden‐Spatz disease. One of these patients had pathologically proven SRO at postmortem. The SRO group showed a significant reduction in the median concentration from N‐acetyl groups (median, 6.87 mM; range, 4.92–10.59 mM; p < 0.015) compared with the control group (median, 9.85 mM; range, 9.26–11.0 mM). The N‐acetylaspartate concentration was significantly reduced in seven of the nine patients studied. The reduction of the N‐acetylaspartate‐creatine ratio from the lentiform nucleus in the SRO group may reflect neuronal loss, occurring predominantly in the globus pallidus. Proton magnetic resonance spectroscopy may be a useful, noninvasive technique to help differentiate the various parkinsonian syndromes.
Interlimb coordination deficits in patients with parkinson's disease during the production of two‐joint oscillations in the sagittal plane
Authors: Swinnen S. P. , van Langendonk L. , Verschueren S. , Peeters G. , Dom R. , de Weerdt W. 
Published: May 2005

AbstractTwoK. U. Leuven, Heverlee, Belgiumlimb coordination patterns involving cyclical flexionK. U. Leuven, Heverlee, Belgiumextension movements, performed in the same or in different directions, were studied in patients with Parkinson's disease and a group of elderly subjects. The three patterns referred to the homologous (both arms or legs), homolateral (right or left arm and leg), and heterolateral (right arm and left leg or vice versa) limb segment combinations that were performed in the sagittal plane from a seated position. Findings revealed that interlimb coordination deficits were evident in patients with Parkinson's disease. Moreover, mean cycle duration and its variability were increased, particularly during the production of nonhomologous limb movements in different directions. These temporal findings suggest that movement slowness was not a primary consequence of an intrinsic inability to move the limb segments at the required speed but rather reflected an intentional strategy to cope with the complexity of the coordination pattern. Finally, movement amplitude was substantially smaller and more variable in patients with Parkinson's disease, suggestive of hypometria during the production of these cyclical tasks.
Parkinsonism associated with acute intracranial hematomas: An [18F]dopa positron‐emission tomography study
Authors: Turjanski Nora , Pentland Brian , Lees Andrew J. , Brooks David J. 
Published: May 2005

AbstractWe present the case of a 36‐year‐old woman with a right temporal hematoma and an overlying subdural hematoma following rupture of a right middle cerebral artery aneurysm. Three weeks after recovering consciousness, she developed a levodopa‐responsive parkinsonian syndrome involving the right limbs. A year after the vascular event, she reported subjective improvement in her parkinsonism, which has remained stable since. 18F‐dopa positron‐emission tomography showed a marked reduction of uptake in the left putamen, raising the possibility that the intracranial hemorrhage unmasked latent Parkinson's disease. To the best of our knowledge, this is the first case of parkinsonism associated with spontaneous acute intracerebral and subdural hematomas.
Living with a person who has parkinson's disease: The Spouse's perspective by stage of disease
Authors: Carter Julie H. , Stewart Barbara J. , Archbold Patricia G. , Inoue Iku , Jaglin Jeana , Lannon Meg , Rost‐Ruffner Elke , Tennis Marsha , McDermott Michael P. , Amyot Donna , Barter Ruth , Cornelius Lisa , Demong Carol , Dobson Judith , Duff Jan , Erickson Judi , Gardiner Nita , Gauger Lisa , Gray Peggy , Kanigan Bernice , Kiryluk Barbara , Lewis Paula , Mistura Kathie , Malapira Teri , Pay Mary , Sheldon Carol , Winfield Linda , Wolfington‐Shallow Kathy , Zoog Kim 
Published: May 2005

AbstractThe objective of this study was to examine the experience of spouses caregiving for their spouse with Parkinson's disease (PD) and to determine whether their experiences differed by stage of disease. By using a cross‐sectional design and mail questionnaire data from 380 spouse caregivers across 23 sites of the Parkinson Study Group, key caregiver variables were examined by stage of PD. Three categories of variables‐caregiver role strain (10 measures), caregiver situation (four measures), and caregiver characteristics (four measures)‐were analyzed by using t tests with Bonferroni correction. Specific types and amounts of role strain accumulated as the disease progressed, and they differed significantly between stages (p < 0.05). In the caregiving situation, the mean number of caregiving tasks tripled by stage 4/5. Negative changes in lifestyle plus decreases in predictability in caregivers' lives increased significantly in late‐stage disease (p < 0.05). Caregiver characteristics of physical health and preparedness did not significantly differ across stages of disease. Depression was significantly higher by stage 4/5. Mutuality, the positive quality of the relationship as perceived by the caregiving spouse, declined beginning at stage 2. Caregiver strain is experienced across all stages of PD and accumulates significantly as the disease progresses. This study defines types and amounts of strain by stage of disease, which will be helpful in designing formal intervention trials to provide more effective help for spouse caregivers.
Abnormalities in the stride length‐cadence relation in parkinsonian gait
Authors: Morris Meg , Iansek Robert , Matyas Thomas , Summers Jeffery 
Published: May 2005

AbstractThe purpose of this investigation was to clarify abnormalities in the stride length‐cadence relation in gait hypokinesia in Parkinson's disease (PD). A second aim was to investigate the effect of levodopa medication on the foot‐step pattern. In the first experiment, 20 subjects with idiopathic PD and 20 age‐, sex‐, and height‐matched controls performed a series of 10 m walking trials at cadence rates ranging from 40 steps/min to 180 steps/min. Cadence rates were set by an electronic metronome, and gait patterns were measured by using a footswitch stride‐analyzer system. By instructing subjects to concentrate on walking in time to the metronome beat, the baseline stride length could be monitored for a range of velocities with the compensatory effects of cadence removed. Linear‐regression analysis revealed that the mean slope for the regression of stride length against cadence was not different form normal in PD, although there was a statistically significant difference in mean intercept between the PD group (0.25) and the control group (0.59); [t (19) = −4.76; p = 0.0001]. The second experiment evaluated the effects of levodopa on stridelength regulation in 10 subjects with idiopathic PD on average 45 min before and after the first morning dose was administred. There was a statistically significant increase in stride length for all cadence rates from premedication to postmedication phases and the maximal stride length was achieved at higher cadence rates after medication. The slope of the regression of stride length against cadence did not alter according to medication status, although the mean intercept was significantly lower before levodopa (‐0.06) compared with after levodopa (0.27); [t (9) = −3.83; p = 0.004]. These results suggest that defective scaling of stride length underlies gait disturbance in PD.
Increased cerebrospinal fluid levels of neurofilament protein in progressive supranuclear palsy and multiple‐system atrophy compared with Parkinson's disease
Authors: Holmberg Björn , Rosengren Lars , Karlsson Jan‐Erik , Johnels Bo 
Published: May 2005

AbstractMore reliable tools are needed for the differentiation of Parkinson's disease (PD) from other parkinsonian disorders. The neurofilament protein (NFL) and the glial fibrillary acidic protein (GFAP) are main structural proteins of axons and fibrillary astroglial cells. By using enzyme‐linked immunosorbent assays, these proteins were quantified in the cerebrospinal fluid (CSF) of 49 patients referred to the Department of Neurology for diagnostic consideration or treatment of parkinsonism of different etiologies. All patients were first diagnostically evaluated by strict clinical criteria. The procedure included a neurologic and neuro‐ophthalmologic examination as well as computed tomography or magnetic resonance imaging. These were performed independently and in advance of the CSF analysis. A total of 19 patients were diagnosed as having PD, 12 had progressive supranuclear palsy (PSP), and 10 had multiple‐system atrophy (MSA). Eight were diagnosed as having other diseases, such as arteriosclerotic parkinsonism and undefined parkinsonian syndromes. The content of NFL was significantly higher both in the PSP group (p < 0.001) and in the MSA group (p < 0.0001) compared with the PD group. The high values of NFL indicate an ongoing neuronal degeneration affecting mainly the axonal compartment in the PSP and MSA groups, whereas there was no difference in glial involvement as measured by GFAP in the PD, PSP, and MSA groups. There was a relation between high CSF levels of NFL in the various patient groups and the occurrence of pyramidal symptoms (p < 0.001), possibly reflecting the axonal damage to the corticospinal tract. Furthermore, mortality at 24‐month follow up was associated with high NFL levels (p < 0.01). We conclude that analysis of NFL in CSF may become useful in the differential diagnosis of parkinsonian syndromes.
Subtle involuntary movements are not reliable indicators of incipient Huntington's disease
Authors: Boo Gerly De , Tibben Aad , Hermans Jo , Maat Anneke , Roos Raymund A. C. 
Published: May 2005

AbstractIn the past, Huntington's disease was diagnosed when movement disturbances were present in concordance with a positive family history. Early motor signs, however, are often not found in a standard neurologic examination, and their expression is variable. Not until later stages of the disease could one be sure about the diagnosis. Since genetic diagnosis became available, the onset of symptoms and signs could be studied in the earliest phase. The aim of the study was to evaluate observer agreement of the assessment of early motor signs in Huntington's disease. A total of 17 gene carriers, 22 noncarriers, and eight partners were recorded on video performing several facial movements after instruction and engaging in a 5‐minute conversation. Three experienced neurologists, unaware of the genetic status of the participants, judged and classified the video recordings independently. The cases with disagreement were judged a second time after the neurologists discussed these cases. The observer agreement after the first judgment is poor (kappas 0.09, 0.24, 0.45) and after the second judgment satisfactory (kappas 0.79, 0.90, 0.78). Consequences for clinical practice and research programs into early symptoms and signs are discussed.
Alterations of motor cortical inhibition in patients with dystonia
Authors: Rona Sabine , Berardelli Alfredo , Vacca Laura , Inghilleri Maurizio , Manfredi Mario 
Published: May 2005

AbstractCortical inhibitory mechanisms were investgated with the technique of paired transcranial magnetic stimulation in 10 patients with dystonia of the right arm: six patients had focal, task‐specific dystonia (writer's cramp) and three had segmental and one had generalized dystonia. Paired stimuli were delivered in a conditioning‐test design during slight voluntary activation of the target muscle, with subthreshold conditioning stimuli at short intervals (3‐20 ms) and suprathreshold conditioning stimuli at long intervals (100‐250 ms). The amount of inhibition at short interstimulus intervals did not differ significantly between patients and normal subjects. With long interstimulus intervals, patients showed more inhibition of the test response, which was significant at the 150‐ms interval. The cortical silent period following a single suprathreshold magnetic stimulus was slightly shorter in patients. No significant difference was detected between the affected side and the unafected side in patients with unilateral task‐specific dystonia, neither in the duration of the silent period nor in the respnse to paired magnetic stimuli. These results indicate that the different types of motor cortical inhibition are produced by different inhibitory circuits. We propose that the alterations observed in patients with dystonia are the result of impaired feedback from the basal ganglia to motor cortical areas, with the ultimate effect of a flattening of the excitability curve of the cortical motoneuron pool during voluntary muscle activation.
Kappa‐opioid receptor agonists increase locomotor activity in the monoamine‐depleted rat model of parkinsonism
Authors: Hughes Neill R. , McKnight Alexander T. , Woodruff Geoffrey N. , Hill Michael P. , Crossman Alan R. , Brotchie Jonthan M. 
Published: May 2005

AbstractExcessive glutamate transmission in the basal ganglia is a major factor in the neural mechanisms underlying parkinsonian akinesia. Activation of K opioid receptors causes a presynaptic reduction in glutamate release. K opioid receptors are concentrated in those regions of the basal ganglia associated with increased glutamate transmission in parkinsonism. In this study, we use the α‐methyl‐p‐tyrosine and reserpine‐treated rat model of parkinsonism to investigate whether systemic administration of the K opioid agonists enadoline (CI‐977) and U69,593 can alleviate the symptoms of parkinsonism either alone or in conjunction with dopamine replacement therapy. We report that, when administered alone, both enadoline and U69,593 can increase locomotion in monoamine‐depleted rats. No increase in locomotor activity was seen after K opioid agonist administration in non‐parkinsonian rats. The responses to K opioid agonists were blocked by co‐administration of either the nonspecific opioid receptor antagonist naloxone or the selective K opioid receptor antagonist nor‐binaltorphimine (nor‐BNI). An important finding is that when enadoline and L‐dopa administered togethe, their anti‐akinetic properties are synergistic. Thus, the doses of enadoline and L‐dopa required to alleviate akinesia when administered together are lower than either administered alone. These data illustrate the importance of K opioid receptors in the neural mechanisms controlling voluntary movement and suggest that K opioid agonists may have a role as adjuncts to dopamine replacement in the management of Parkinson's disease.
Clinical impairment of sequential finger movements in Parkinson's disease
Authors: Agostino Rocco , Berardelli Alfredo , Currà Antonio , Accornero Neri , Manfredi Mario 
Published: May 2005

AbstractA retrospective analysis was performed on the records of 33 off‐therapy parkinsonian patients. We analyzed the clinical score of three sequential upper limb movements: finger tapping, hand opening and closing, and forearm pronation and supination. The records showed that nearly all patients had difficulty in performing all three motor tasks, but movement scores showed that they found the sequential finger‐tapping task significantly more difficult than the other two tasks. We suggest that parkinsonian patients find individual finger movements more difficult to execute than gross hand movements because‐owing to their abnormal basal ganglia output‐they lack the finer cortical control and greater facilitation that the finger task demands.
Do visual‐evoked potentials and spatiotemporal contrast sensitivity help to distinguish idiopathic Parkinson's disease and multiple system atrophy?
Authors: Delalande I. , Hache Jc. , Forzy G. , Bughin M. , Benhadjali J. , Destée A. 
Published: May 2005

AbstractA large number of patients with Parkinson's disease were reported to have abnormal visual‐evoked potentials (VEPs) and spatiotemporal contrast sensitivity (STCS) suggesting dopaminergic deficiency in the visual pathway, probably the retina. Until now, VEPs and STCS have not been studied in multiple system atrophy (MSA). We investigated 12 patients with idiopathic Parkinson's disease (IPD) and 12 patients with MSA. The age medians were 64.5 years for IPD and 63.5 years for MSA. None of the patients showed any ocular disease that could interfere with the results. Checkboard VEPs and STCS measurements to horizontal sinusoidal gratings were evaluated. Statistical analysis was performed, including Student's t test and two‐ or three‐way analysis of variance. A significant interocular difference in spatial contrast sensitivity was observed in IPD, which was not present in MSA. VEPs were not delayed in MSA, whereas latency of the major component and the second negative deflection were increased in IPD. VEPs and STCS measurements might provide useful help for distinguishing IPD from MSA.
Rarity of debrisoquine hydroxylase gene polymorphism in chinese patients with Parkinson's disease
Authors: Pang Chi P. , Zhang Jun , Woo Jean , Chan Daniel , Law Lap K. , Tong Shirley F. , Kwok Timothy , Kay Richard 
Published: May 2005

AbstractImpaired debrisoquine metabolism resulting from defects in the cytochrome P450 CYP2D6‐debrisoquine hydroxylase gene has been shown to be associated with the development of Parkinson's disease(PD). We studied two polymorphisms in this gene in 207 Chinese PD patients and 227 control subjects by polymerase chain reaction and restriction analysis. The G to A substitution at position 1934 in the junction of intron 3/exon 4 was detected in one sporadic PD patient and two control subjects, all of whom were heterozygous. The single base deletion at position 2637 in exon 5 was not detected in any of the study subjects. Such rarity of CYP2D6 polymorphism indicates PD in the Chinese population is associated with some other gene defects.
Confirmation of the antidyskinetic effect of posteroventral pallidotomy by means of an intraoperative apomorphine test
Authors: Merello Marcelo , Cammarota Angel , Nouzeilles Maria I. , Betti Osvaldo , Leiguarda Ramón 
Published: May 2005

AbstractWe present a series of six consecutive Parkinson's disease patients undergoing posteroventral pallidotomy (PVP), who received an apomorphine injection after thermolesioning the posteroventral region of the internal globus pallidus (GPi) to evaluate the effect of the lesion on drug‐induced dykinesias and therefore to proceed with further lesions or to conclude the surgery. Five of six patients failed to present dykinesias or did so to a significantly lesser degree (F [2, 10] 42.6; p < 0.0001) so that surgery was concluded. One patient continued having contralateral dyskinesia despite an improvement in rigidity and bradykinesia, therefore, a new track was performed followed by a new lesion. No differences were found between intrasurgical and 1‐month postoperative apomorphine test values. This report indicates that the use of an apomorphine test after thermolesioning may provide a reliable tool to check lesion efficacy on dyskinesia. The development of techniques that provide additional clinical information to the electrophysiological recording could help improve the outcome of patients undergoing pallidotomy.
Erdheim‐chester disease with extensive intraaxial brain stem lesions presenting as a progressive cerebellar syndrome
Authors: Evidente Virgilio Gerald H. , Adler Charles H. , Giannini Caterina , Conley Christopher R. , Parisi Joseph E. , Fletcher Geoffrey P. 
Published: May 2005

AbstractWe report a rare case of Erdheim‐Chester disease (ECD) presenting as a progressive cerebellar syndrome and diabetes insipidus. On magnetic resonance imaging, a 7‐mm extraaxial, enhancing mass was seen enveloping the right vertebral artery and was confirmed at autopsy to represent an adventitial xanthoma with lipid‐laden, foamy histiocytes. The cerebellar syndrome most likely resulted from extensive histiocytic infiltration of the pons, particularly the basis pontis and middle cerebellar peduncles.
Normal frontal perfusion in patients with frozen gait
Authors: Fabre Nelly , Brefel Christine , Sabatini Umberto , Celsis Pierre , Montastruc Jean Louis , Chollet François , Rascol Olivier 
Published: May 2005

AbstractWe have studied the frontal perfusion in the resting condition of two groups of patients with frozen gait: 10 patients with the syndrome of “isolated gait ignition failure” (IGIF) and 8 patients with idiopathic Parkinson's disease (PD) and severe “off” freezing. These patients were compared with two other groups: one including 20 age‐matched volunteers as normal control subjects and the other one including 12 patients with progressive supranuclear palsy (PSP) as a positive control with expected frontal hypoperfusion. Frontal perfusion was assed using single photon emission computed tomography (SPECT) regional cerebral blood flow measurement with intravenous 133Xenon. A significant frontal hypoperfusion was only present in the PSP group but not in the three othrs. These results do not support the hypothesis that start hesitations and freezing when walking are related to a frontal lobe dysfunction. However, it is possible that frontal neuronla dysfunction occurs without measurable cerebral blood flow changes in the resting condition.
Parkinsonism with HIV infection
Authors: Mirsattari Seyed M. , Power Christopher , Nath Avindra 
Published: May 2005

AbstractWe describe six patients with parkinsonism and another 10 patients with parkinsonian features with human immunodeficiency virus (HIV) infection. In 50% of these patients, the symptoms were precipitated by neuroleptics. In the remaining patients, no obvious cause other than HIV infection was identified. Discontinuation of the neuroleptics produced complete recovery in one patient and partial or no response in others. Rapid progression of parkinsonism was noted in two patients, one of whom was treated with high‐dose zidovudine (AZT) and benztropine. We conclude that patients with AIDS are at risk of developing an akinetic parkinsonism which may be precipitated by the use of neuroleptics, response to treatment is variable, and parkinsonism may be another primary HIV‐induced syndrome.