bluuebunny/crossref_metadata_2025_split huggingface dataset:
Soluble adhesion molecules (sVCAM‐1 and sICAM‐1) in cerebrospinal fluid and serum correlate with MRI activity in multiple sclerosis
Authors: Rieckmann Peter , Altenhofen Bernd , Riegel Antje , Baudewig Jürgen , Felgenhauer Klaus 
Published: January 2005

AbstractWe performed a prospective study to correlate quantitative brain magnetic resonance imaging activity (gadolinium‐diethylenetriaminepentaacetic acid enhancement) to cerebrospinal fluid and serum levels of soluble adhesion molecules in 46 patients with newly diagnosed multiple sclerosis (MS) and 30 control subjects with other diseases of the central nervous system. In all patients, magnetic resonance imaging of the brain and lumbar puncture were performed on the same day. In 32 (70%) of 46 MS patients, 8 (80%) of 10 patients with acute viral encephalitis, but none of the control subjects with noninflammatory diseases, gadolinium‐enhancing lesions were detected. There was a significant correlation between the cerebrospinal fluid/serum ratios for soluble intercellular adhesion molecule‐1 and soluble vascular cell adhesion molecule‐1 as well as serum levels for both molecules and the area of gadolinium‐enhancing lesions. No obvious correlation was observed between magnetic resonance imaging findings and cerebrospinal fluid cell count, protein concentration, or intrathecal immunoglobulin production. In patients with a single periventricular gadolinium‐enhancing lesion (n = 16), we observed a strong negative correlation between the distance from the lateral ventricles and the cerebrospinal fluid/serum ratios for soluble intercellular adhesion molecule‐1/albumin and soluble vascular cell adhesion molecule‐1/albumin. These results suggest that intrathecal production of the two soluble adhesion molecules, as well as serum levels for soluble vascular cell adhesion molecule‐1, in patients with MS reflect magnetic resonance imaging activity of typical periventricular lesions.
Mononeuropathy multiplex in rhesus monkeys with chronic lyme disease
Authors: England John D. , Bohm Rudolf P. , Roberts E. Donald , Philipp Mario T. 
Published: January 2005

AbstractPeripheral neuropathy is a recognized but poorly understood manifestation of Lyme disease. We performed serial electrophysiological studies on 8 rhesus monkeys chronically infected with the JD1 strain of Borrelia burgdorferi and compared the results with those of similar studies on 10 uninfected control monkeys. Four infected and 2 uninfected animals underwent sural nerve biopsy. Five of the infected and 1 of the uninfected animals also had postmortem neuropathological examinations. Altogether, 5 of the infected monkeys demonstrated primarily axonal‐loss‐variety multifocal neuropathies. Only one nerve lesion exhibited findings compatible with demyelination. Pathologically, peripheral nerve specimens showed multifocal axonal degeneration and regeneration and occasional perivascular inflammatory cellular infiltrates without vessel wall necrosis. Free spirochetal structures were not seen, but several macrophages exhibited positive immunostaining with a highly specific anti‐B. burgdorferi, 7.5‐kd lipoprotein monoclonal antibody. In the infected animals, serial analysis of serum antibodies to B. burgdorferi showed increasing numbers of IgG specificities and new IgM specificities, suggesting persistent infection. Thus, peripheral neuropathy in the form of a mononeuropathy multiplex develops frequently in rhesus monkeys chronically infected with B. burgdorferi. The pathogenesis of these nerve lesions is not yet known, but our studies suggest an immune‐mediated process perhaps driven by persistent infection with B. burgdorferi.
Correlation of clinical, magnetic resonance imaging, and cerebrospinal fluid findings in optic neuritis
Authors: Jacobs Lawrence D. , Kaba Samer E. , Miller Colleen M. , Priore Roger L. , Brownscheidle Carol M. 
Published: January 2005

AbstractWe found 42 of 74 patients (57%) with isolated monosymptomatic optic neuritis to have 1 to 20 brain lesions, by magnetic resonance imaging (MRI). All of the brain lesions were clinically silent and had characteristics consistent with multiple sclerosis (MS). None of the patients had ever experienced neurologic symptoms prior to the episode of optic neuritis. During 5.6 years of follow‐up, 21 patients (28%) developed definite MS on clinical grounds. Sixteen of the 21 converting patients (76%) had abnormal MRIs; the other 5 (24%) had MRIs that were normal initially (when they had optic neuritis only) and when repeated after they had developed clinical MS in 4 of the 5. Of the 53 patients who have not developed clinically definite MS, 26 (49%) have abnormal MRIs and 27 (51%) have normal MRIs. The finding of an abnormal MRI at the time of optic neuritis was significantly related to the subsequent development of MS on clinical grounds, but interpretation of the strength of that relationship must be tempered by the fact that some of the converting patients had normal MRIs and approximately half of the patients who did not develop clinical MS had abnormal MRIs. We found that abnormal IgG levels in the cerebrospinal fluid correlated more strongly than abnormal MRIs with the subsequent development of clinically definite MS.
Peripheral neuropathy in human immunodeficiency virus—infected patients with the diffuse infiltrative lymphocytosis syndrome
Authors: Moulignier Antoine , Authier François‐Jérôme , Baudrimont Marielle , Pialoux Gilles , Belec Laurent , Polivka Marc , Clair Bernard , Gray Françoise , Mikol Jacqueline , Gherardi Romain K. 
Published: January 2005

AbstractA subset of human immunodeficiency virus (HIV)‐infected patients develop persistent CD8 hyperlymphocytosis and a Sjögren's syndrome‐like syndrome associated with multivisceral CD8 T‐cell infiltration, known as the diffuse infiltrative lymphocytosis syndrome (DILS). Patients with DILS tend to have higher CD4 cell counts, fewer opportunistic infections, and longer survival times than other HIV‐infected patients. Peripheral nerve involvement in DILS has been poorly documented. We studied 12 HIV‐infected patients with CD8 hyperlymphocytosis, DILS, and clinical signs of peripheral neuropathy. Two of 4 patients who were HLA typed were HLA‐DR5 and 1 was HLA‐DR6. All patients had the sicca syndrome and multivisceral involvement. The neuropathy was acute or subacute, always painful, and symmetrical in 8 cases. Electrophysiology was consistent with axonal neuropathy in 10 of 12 patients. Nerve biopsy showed marked angiocentric CD8 infiltrates without mural necrosis (12 of 12), and abundant expression of HIV p24 protein in macrophages (12 of 12). The HIV genome was detected by polymerase chain reaction in nerve homogenates. Zidovudine therapy was associated with improvement in 6 of 6 patients and steroid therapy was beneficial in 4 of 5 patients. No T‐cell lymphoma was observed during follow‐up, but 2 patients developed a primary B‐cell lymphoma. We conclude that DILS neuropathy represents HIV‐associated neuropathy, characterized by marked CD8 infiltration and abundant HIV in nerve, that improves with zidovudine or steroid therapy, and probably reflects a systemic host‐determined and antigendriven response to HIV.
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
Authors: Paulson Henry L. , Das Sonal S. , Crino Peter B. , Perez Matthew K. , Patel Sonal C. , Gotsdiner Denise , Fischbeck Kenneth H. , Pittman Randall N. 
Published: January 2005

AbstractMachado‐Joseph disease (MJD) is one of at least six neurodegenerative diseases caused by expansion of a CAG repeat encoding a polyglutamine tract in the disease protein. To study the molecular mechanism of disease, we isolated both normal and expanded repeat MJD1 cDNAs, and generated antiserum against the recombinant gene product, called ataxin‐3. Using this antiserum, we demonstrate that in disease tissue, both the normal and mutant ataxin‐3 protein are expressed throughout the body and in all regions of the brain examined, including areas generally spared by disease. In brain, certain regions (the striatum, for example) express ataxin‐3 in only a limited subset of neurons. Immunolocalization studies in normal and disease brain, and in transfected cells, indicate that ataxin‐3 is predominantly a cytoplasmic protein that localizes to neuronal processes as well. We conclude that in MJD, as in other polyglutamine repeat diseases, cellular expression of the disease gene is not itself sufficient to cause neuronal degeneration; other cell‐specific factors must be invoked to explain the restricted neuropathology seen in MJD. The restricted expression of ataxin‐3 in certain regions, however, may influence the pattern of neurodegeneration and provide clues to the protein's function.
Various types of herediary inclusion body myopathies map to chromosome 9p1‐q1
Authors: Argov Zohar , Tirman Efrat , Eisenberg Iris , Sadeh Menahem , Siedman Christine E. , Siedman J. G. , Karpati George , Mitrani‐Rosenbaum Stella 
Published: January 2005

AbstractHereditary inclusion body myopathies are a clinically heterogeneous group of disorders characterized by adult‐onset, slowly progressive muscle weakness and typical histopathology: rimmed vacuoles and filamentous inclusions. The disorders are usually inherited as an autosomal recessive trait. The gene responsible for the disease found in Iranian Jews, who present wih quadriceps‐sparing myopathy, maps to chromosome 9p1‐q1. We address the question of whether hereditary inclusion myopathies are genetically as well as clinically heterogeneous disorders. We mapped the disease gene segregating in two families of Afghani‐Jewish and one family of Iraqi‐Jewish descent to the chromosome 9 locus. Similarly, the disease gene segregating in a non‐Jewish family from India mapped to the same locus. By contrast, the disease gene segregating in a French‐Canadian family in which affected individuals had central nervous system involvement as well as hereditary inclusion body myopathy, did not map to this locus. We conclude that many but not all forms of autosomal recessive hereditary inclusion body myopaty are caused by a gene defect that maps to chromosome 9p1‐q1.
Complex I function in familial and sporadic dystonia
Authors: Schapira A. H. V. , Warner T. , Gash M. T. , Cleeter M. W. J. , Marinho C. F. M. , Cooper J. M. 
Published: January 2005

AbstractA significant proportion of patients with inborn errors of teh mitochondrial respiratory chain exhibit movement disordrs, particularly dystonia. Point mutations of mitochondrial DNA (mtDNA) are usually expressed systemically, adn defects of platelet respiratory chain function have been described in patients with mtDNA mutations and Leber's hereditary optic neuropathy (LHON). Recent resports have documented families with dystonia in association with LHON and mtDNA complex I gene mutations. We have examined mitochondrial function in platelet mitochondria from patients with familial generalized dystonia (linked or not linked to 9q34) and sporadic focal dystonia. We confirm a previous report of a specific complex I defect in patients with sporadic focal dystonia but could not find any abnormality in patients with familial generalized dystonia, linked or not to 9q34. These results support the existence of a mitochondrial deficiency in sporadic focal dystonia and provide a biochemical dimension to the clinical and genetic distinction between focal and generalized familial dystonia.
Cortical reorganization in patients with facial palsy
Authors: Rijntjes Michel , Tegenthoff Martin , Liepert Joachim , Leonhardt Georg , Kotterba Sylvia , Müller Stephan , Kiebel Stephan , Malin Jean‐Pierre , Diener Hans‐Christoph , Weiller Cornelius 
Published: January 2005

AbstractPossible changes in the organization of the cortex in patients with facial palsy, serving as a model of peripheral motor deefferentation, were investigated by using transcranial magnetic stimulation (TMS) and positron emission tomography (PET). With TMS, the size of the area producing muscle‐evoked potentials (MEPs) of the abductor pollicis brevis muscle, the sum of MEP amplitudes within this area, and the volume over the mapping area were compared between both hemispheres in 8 patients. With PET, increases in regional cerebral blood flow, measured with the standard H215O2bolus injection technique, were compared between 6 patients and 6 healthy volunteers during sequential finger opposition. Patients moved the hand ipsilateral to the facial palsy, the control subjects the right hand. Of 9 patients in total, 5 participated in both experiments. With both methods, an enlargement of the hand field contralateral to the facial palsy was found, extending in a lateral direction, into the site of the presumed face area. The PET data showed that the enlargemement of the hand field in the somatosensory cortex (SMC) is part of a widespread cortical reorganization, including the ipsilateral SMC and bilateral secondary motor and sensory areas. We report for the first time, using two different noninvasive methods, that peripheral, mere motor deefferentation is a sufficient stimulus for reorganizational changes in the healthy adult human cortex.
Cerebral generators involved in the pathogenesis of the restless legs syndrome
Authors: Bucher Stefan F. , Seelos Klaus C. , Oertel Wolfgang H. , Reiser Maximilian , Trenkwalder Claudia 
Published: January 2005

AbstractThe pathophysiology of periodic limb movements and sensory leg discomfort in the restless legs syndrome is unknown. With high‐resolution functional magnetic resonance imaging, we localized for the first time cerebral generators associated with sensory leg discomfort and periodic limb movements in 19 patients with restless legs syndrome. During sensory leg discomfort there was mainly bilateral activation of the cerebellum and contralateral activation of the thalamus. During the combined periodic limb movement and sensory leg discomfort conditions, patients also showed activity in the cerebellum and thalamus. In contrast to the sensory leg discomfort condition alone, the combined condition was associated with additional activation in the red nuclei and brainstem close to the reticular formation. Voluntary imitation of periodic limb movements by patients and control subjects was not associated with brainstem activity, but with additional activation in the globus pallidus and motor cortex. These findings indicate that cerebellar and thalamic activation may occur because of sensory leg discomfort and that the red nucleus and brainstem are involved in the generation of periodic limb movements in patients with restless legs syndrome.
Increases in soluble VCAM‐1 correlate with a decrease in MRI lesions in multiple sclerosis treated with interferon β‐1b
Authors: Calabresi Peter A. , Tranquill Laura R. , Dambrosia James M. , Stone Lael A. , Maloni Heidi , Bash Craig N. , Frank Joseph A. , McFarland Henry F. 
Published: January 2005

AbstractInterferon β‐1b reduces clinical exacerbations and disease activity in multiple sclerosis as shown by magnetic resonance imaging, but the mechanism of action is unknown. We investigated the correlation between the levels of soluble adhesion molecules and a reduction in contrast‐enhancing lesions on gadopentetate dimeglumine magnetic resonance images after treatment with interferon β‐1b. We determined levels of soluble vascular cell adhesion molecule‐1, intercellular adhesion molecule‐1, E‐selectin, L‐selectin, and tumor necrosis factor receptor (60 kd) in monthly serum samples from patients with definite multiple sclerosis before and during treatment with interferon β‐1b. The level of soluble adhesion molecules was correlated with the number of newly enhancing lesions on monthly contrast‐enhanced images. Levels of soluble vascular cell adhesion molecule during treatment were significantly increased compared to control or pretreatment values. The median levels (ng/ml) of this adhesion molecule were 580.3 (range; 373.0–640.7) for the healthy subjects, and 551.4 (489.7–875.5) for patients prior to treatment and 847.9 (591.5–1,232.9) during treatment. Levels of the other soluble adhesion molecules and soluble tumor necrosis factor receptor were not significantly changed during treatment. The increase in soluble vascular cell adhesion molecule correlated with a decrease in the number of contrast‐enhancing lesions on magnetic resonance images. These data suggest a novel mechanism of action for interferon β‐1b by direct interference with the adhesion cascade, which may prevent activated T cells from trafficking into the central nervous system.
Dutch hereditary cerebral amyloid angiopathy: Structural lesions and apolipoprotein E genotype
Authors: Bornebroek M. , Haan J. , Van Duinen S. G. , Maat‐Schieman M. L. C. , Van Buchem M. A. , Bakker E. , Van Broeckhoven C. , Roos R. A. C. 
Published: January 2005

AbstractHereditary cerebral hemorrhage with amyloidosis‐Dutch type is caused by a mutation at codon 693 of the β amyloid precursor protein gene. The disease is clinically characterized by strokes and dementia. In addition to cerebral plaques, cerebral amyloid angiopathy is the pathological hallmark. We investigated the correlation between radiological (white matter hyperintensities and focal lesions on magnetic resonance images) and pathological lesions (cerebrovascular amyloid angiopathy and plaques) and the apolipoprotein E genotype in patients with the disease. Twenty‐five patients were studied using magnetic resonance imaging, and brain tissue from 8 patients was studied histopathologically. Neither the white matter hyperintensity scores nor the number of focal lesions on magnetic resonance images were associated with the presence of an ϵ4 allele. Nor was a correlation found between the number and type of plaques and the apolipoprotein E genotype. All patients had severe amyloid angiopathy in all cortical areas investigated. This study showed that the apolipoprotein E genotype does not modulate amyloidrelated structural lesions in hereditary cerebral hemorrhage with amyloidosis of the Dutch type.
Painful proximal diabetic neuropathy: Inflammatory nerve lesions and spontaneous favorable outcome
Authors: Said Gérard , Elgrably Fabienne , Lacroix Catherine , Planté Violaine , Talamon Céline , Adams David , Tager Michel , Slama Gérard 
Published: January 2005

AbstractProximal diabetic neuropathy is a disabling neuropathy that occurs predominantly in non‐insulin‐dependent diabetic patients over the age of 50. Inflammatory lesions have been found in nerve biopsy specimens of diabetic patients with severe proximal neuropathy or with other patterns of multifocal neuropathy. Some of these patients respond dramatically to treatment with corticosteroids or with other immunomodulators. In this article we report on our findings in 4 additional patients with painful proximal diabetic neuropathy and different patterns of inflammatory nerve lesions whose condition improved spontaneously shortly after performance of a nerve biopsy, without additional treatment.
A mismatch between kinesthetic and visual perception in Parkinson's disease
Authors: Demirci Mehmet , Grill Stephen , McShane Lisa , Hallett Mark 
Published: January 2005

AbstractKinesthesia may be defective in patients with Parkinson's disease (PD), and this defect conceivably has a role in parkinsonian hypokinetic symptoms. In the present study, PD patients used kinesthetic perception to estimate the amplitude of passive angular displacements of the index finger about the metacarpophalangeal joint and to scale them as a percentage of a reference stimulus. The reference stimulus was either a standard kinesthetic stimulus preceding each test stimulus (task K) or a visual representation of the standard kinesthetic stimulus (task V). In task V, the PD patients' underestimation of the amplitudes of finger perturbations was significantly greater than that of normal subjects, but not for task K. PD patients' underestimation was also greater in task V than in task K; the difference between the underestimations was significantly greater than for normal subjects. These results suggest that, when kinesthesia is used to match a visual target, distances are perceived to be shorter by the PD patients. Assuming that visual perception is normal, kinesthesia is “reduced” in PD patients. This reduced kinesthesia, when combined with the well‐known reduced motor output and probably reduced corollary discharges, implies that the sensorimotor apparatus is “set” smaller in PD patients than in normal subjects.
The clinical syndrome of early‐life bilateral hippocampal sclerosis
Authors: Delong G. Robert , Heinz E. Ralph 
Published: January 2005

AbstractFour infants had bilateral hippocampal sclerosis by magnetic resonance scans, including oblique coronal fast spin echo images of the temporal lobes; [18F]fluorodeoxyglucose–positron emission tomographic scans, done in 2 infants, showed isolated bilateral anterior temporal lobe hypometabolism. All had epilepsy with episodes of status epilepticus. Despite adequate motor and sensory functions, all failed to develop language (or lost attained language), social skills, and complex purposive or adaptive activity, even after epilepsy was controlled. Bilateral hippocampal dysfunction in early life appears to be associated with a profound failure of cognitive capacities, including language learning and learning of complex social and adaptive skills in general. The deficits correspond to the cognitive deficits of severe infantile autism. Hippocampal function, or more generally medial temporal lobe function, appears necessary for language learning in the infant, as well as for complex social and adaptive learning.
Cytokine profile of myelin basic protein—reactive T cells in multiple sclerosis and healthy individuals
Authors: Hermans Guy , Stinissen Piet , Hauben Lysiane , van den Berg‐Loonen Ella , Raus Jef , Zhang Jingwu 
Published: January 2005

AbstractMyelin basic protein (MBP)‐reactive T cells have been implicated in the autoimmune pathogenesis of multiple sclerosis (MS). In this study, we examined the cytokine profile of 531 primary MBP‐reactive T‐cell lines and 72 independently established clones from 32 patients with MS and 18 healthy controls (NS) by using highly sensitive enzyme‐linked immunosorbent assays. An increased number of primary T‐cell lines producing interferon‐γ (IFNγ) and/or interleukin‐4 (IL‐4) in response to MBP were found in patients with MS compared with controls. No distinct Th1 or Th2 subtypes could be demonstrated among the MBP‐reactive clones. IL‐4 was more frequently observed among MS‐derived clones. Clones derived from MS patients produced increased levels of IL2, IL4, tumor necrosis factor‐α (TNFα), IFNγ, and IL‐10, but not IL‐6. It is interesting that MBP‐reactive T cells from MS patients expressing the disease‐associated HLA‐DRBI 15 allele produced increased quantities of TNFα, a cytokine suggested to play an important role in inflammation and demyelination. When challenged with either MBP or a bacterial superantigen, the clones expressed similar levels of the proinflammatory cytokine IFNγ. Our study suggests a functional difference in T‐cell responses to MBP in patients with MS compared with healthy individuals, and provides further insights into the role of MBP‐reactive T cells and their cytokine profile in the inflammatory processes of MS.