bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cerebellar hypermetria is larger when the inertial load is artificially increased
Authors: Manto M. , Godaux E. , Jacquy J. 
Published: January 2005

AbstractHypermetria is a classical cerebellar symptom designating the overshoot observed when a patient is asked to make a very fast and accurate movement. The movement studied here was wrist flexion. Hypermetria was found to be increased by artificially increasing the inertia of the moving hand. A normal subject adapted himself to increasing inertia by increasing both his agonist activity (the launching force) and its antagonist activity (the braking force). In the same circumstances, a patient with symptoms of cerebellar system dysfunction was found to be able to increase his agonist activity but not his antagonist activity.
Synaptotagmin can cause an immune‐mediated model of Lambert‐Eaton myasthenic syndrome in rats
Authors: Takamori Masaharu , Hamada Toshio , Komai Kiyonobu , Takahashi Masami , Yoshida Akira 
Published: January 2005

AbstractThe possible antigenicity of synaptotagmin, a synaptic vesicle protein acting as a cooperative calcium (Ca2+) receptor in exocytosis, was tested to determine whether it is involved in the induction of Lambert‐Eaton myasthenic syndrome in which antibodies against voltage‐dependent Ca2+ channels or related molecules play a pathogenic role. Repeated injections to Lewis rats with peptides of synaptotagmin residues 20 through 53 or 1 through 30 that are presumably exposed at the nerve terminal surface during exocytosis induced corresponding antipeptide antibodies; on immunoblots, antibodies recognized synaptotagmin that was expressed in the clonal cells. Electrophysiologically, the peptide (residues 20–53)‐immunized rats showed (1) reduced acetylcholine quantal content of end‐plate potential, (2) an increase in quantal content at high extracellular Ca2+ concentration, and (3) early facilitation followed by less marked depression of end‐plate potential amplitude at a tetanic rate of repetitive nerve stimulation. Findings are similar to those in human Lambert‐Eaton myasthenic syndrome and passively transferred Lambert‐Eaton myasthenic syndrome in mice, and thus suggest that antibody to a synaptotagmin–voltage‐dependent Ca2+ channel complex may be involved in the pathogenesis of Lambert‐Eaton myasthenic syndrome. The peptide (residues 1–30)‐immunized rats showed no electrophysiological abnormality.
Amyotrophic lateral sclerosis patient antibodies label Ca2+ channel α1 subunit
Authors: Kimura Fumiharu , Smith R. Glenn , Delbono Osvaldo , Nyormoi Okot , Schneider Toni , Nastainczyk Wolfgang , Hofmann Franz , Stefani Enrico , Appel Stanley H. 
Published: January 2005

AbstractSporadic amyotrophic lateral sclerosis is an idiopathic human degenerative disease of spinal cord and brain motor neurons. Prior studies demonstrated that most patients with amyotrophic lateral sclerosis posses immunoglobulins that bind to purified L‐type voltage‐gated calcium channels, that titers of anti–voltage‐gated calcium channel antibodies correlate with disease progression rates, and that amyotrophic lateral sclerosis patient‐derived antibodies (ALS IgG) produce electrophysiological changes in the function of voltage‐gated calcium channels. Using Western transfer immunoblots and enzyme‐linked immunosorbent assays, the calcium ionophore–forming α1 subunig of the voltage‐gated calcium channel is now identified as the major voltage‐gated calcium channel antigen to which ALS IgG binds. Additionally, the binding of an L‐type voltage‐gated calcium channel α1 subunit–directed monoclonal antibody, which itself mimics the effects of ALS IgG on skeletal muscle voltage‐gated calcium channel currents, is selectively prevented by preaddition of ALS IgG. Voltage‐gated calcium channel–binding IgG from patients with Lambert‐Eaton myasthenic syndrome appears to be differentiated from ALS IgG by the reactivity of the former to both α1 and β subunits of the calcium channel. These assays provide further evidence linking amyotrophic lateral sclerosis to an autoimmune process, and suggest one means to differentiate immunoglobulins from patients with amyotrophic lateral sclerosis from those of patients with another autoimmune disease expressing calcium channel antibodies.
Plasma exchange and intravenous immunoglobulin treatment of neuromuscular disease
Authors: Thornton Charles A. , Griggs Robert C. 
Published: January 2005

AbstractRemoval of immunoglobulin by plasma exchange and administration of immunoglobulin by intravenous infusion each improve selected neuromuscular diseases. Both treatments are expensive and relatively brief in their duration of action, but they benefit both self‐limited neuromuscular diseases such as the Guillain‐Barré syndrome and acute exacerbations of more chronic neuromuscular diseases including myasthenia gravis and chronic inflammatory demyelinating polyneuropathy. It is likely that plasma exchange acts by removing pathogenic antibodies. The mechanism by which intravenous immunoglobulin acts is less clear. Possibilities include (1) antiidiotypic antibody effect, (2) complement absorption, (3) downregulation of immunoglobulin production, (4) receptor blockade, (5) virus neutralization, (6) enhancement of suppressor cells, and (7) inhibition of lymphocyte proliferation. Although plasma exchange and intravenous immunoglobulin have major side effects, severe reactions are uncommon with plasma exchange and rare with intravenous immunoglobulin. Because of their low incidence of life‐threatening complications, both treatments have major appeal to clinicians. Because of their brief action and high cost as well as the uncertainty as to whether either or both should be employed, their role in the therapeutic armamentarium of the neurologist requires further study.
Nigrostriatal function in vitamin E deficiency: Clinical, experimental, and positron emission tomographic studies
Authors: Dexter David T. , Brooks David J. , Harding A. E. , Burn David J. , Muller David P. R. , Goss‐Sampson M. A. , Jenner P. G. , Marsden C. David 
Published: January 2005

AbstractFour patients with vitamin E deficiency and sensory ataxia were studied using [18F]dopa positron emission tomography. The 2 most disabled patients, who had severe and prolonged vitamin E deficiency due to abetalipoproteinemia, showed reduced [18F]dopa uptake in both putamen and caudate. Putaminal uptake was in a similar range to that seen in Parkinson's disease. Studies of [3H]mazindol binding in the striatum of vitamin E–deficient rats indicated a reduced number of dopamine terminals, which was most severe in ventrolateral striatum. These observations suggest that severe and prolonged vitamin E deficiency results in loss of nigrostriatal nerve terminals, and support the hypothesis that oxidative stress may contribute to the etiology of Parkinson's disease.
Oligodendrocyte lysis by CD4+ T cells independent of tumor necrosis factor
Authors: Antel Jack P. , Williams Kenneth , Blain Manon , McRea Ellie , McLaurin JoAnne 
Published: January 2005

AbstractThe capacity of human CD4+ T cells to lyse heterologous human oligodendrocytes in an 18‐hour chromium 51–release assay was compared to that of systemic blood‐derived macrophages and central nervous system–derived microglia. CD4+ T cells, activated with either phytohemagglutinin, anti‐CD3 antibody, or antigen (myelin basic protein), could induce lysis of the oligodendrocytes whereas macrophages and microglia, activated with interferon‐γ and lipopolysaccharide, could not. The CD4+ T‐cell effect was not inhibited with an anti–tumor necrosis factor‐α–neutralizing antibody. Both the CD4+ T cells and the macrophages could induce lysis of tumor necrosis factor–sensitive rodent cell lines, Wehi 164, and L929; these effects were inhibited with anti–tumor necrosis factor antibody. Pretreatment of the CD4+ T cells with cyclosporine or mitomycin C did not inhibit oligodendrocyte lysis. These results indicate that at least in vitro, CD4+ T cells can induce a form of oligodendrocyte injury that is not reproduced by macrophages or microglia or by tumor necrosis factor. The non–major histocompatibility complex (MHC)–restricted injury of oligodendrocytes induced by both myelin antigen–reactive and mitogen‐stimulated T cells may provide a basis whereby cytotoxic CD4+ T cells could interact with a target cell that does not express MHC class II molecules. Our results suggest that immune‐mediated oligodendrocyte/myelin injury, as is postulated to occur in the disease multiple sclerosis, may involve multiple effector mechanisms.
Autosomal‐dominant cerebellar ataxia with retinal degeneration (ADCA type II) is genetically different from ADCA type I
Authors: Benomar A. , Le Guern E. , Dürr A. , Ouhabi H. , Stevanin G. , Yahyaoui M. , Chkili T. , Agid Y. , Brice A. 
Published: January 2005

AbstractAutosomal‐dominant cerebellar ataxia (ADCA) type II is a neurodegenerative disorder presenting with cerebellar ataxia and retinal degeneration. We analyzed the clinical features of 21 patients with ADCA type II from 3 Moroccan and 2 French families. Mean age at onset was 17 years earlier in offspring than in their parents, compatible with anticipation. There was a suggestion of imprinting, with predominantly paternal transmission of early onset and severe forms of the affection. Candidate genes were tested in the family with the largest pedigree. The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsine and peripherin‐rds, responsible for autosomal dominant retinitis pigmentosa. ADCA type II does not therefore result from an allelic mutation of the tested genes for ADCA type I or autosomal dominant retinitis pigmentosa.
Rett syndrome: Controlled study of an oral opiate antagonist, naltrexone
Authors: Percy Alan K. , Glaze Daniel G. , Schultz Rebecca J. , Zoghbi Huda Y. , Williamson Daniel , Frost James D. , Jankovic Joseph J. , del Junco Deborah , Skender Martha , Waring Steve , Myer Edwin C. 
Published: January 2005

AbstractHypothesis: The opiate antagonist, naltrexone, will be beneficial in Rett syndrome. Subjects: Twenty‐five individuals fulfilling the criteria for Rett syndrome. Method: Randomized, double‐blind, placebo‐controlled crossover trial with two treatment periods, 4 months each, and an intervening 1‐month washout period. Clinical stage, motor and cognitive development, motor–behavioral analysis, neurophysiological parameters (computerized electroencephalographic analysis, breathing characteristics, quantification of stereotyped hand movements, and sleep characteristics), and cerebrospinal fluid β‐endorphin measurements were evaluated at baseline and at the end of each treatment period. Results: Only data from the first period of this study were analyzed due to significant sequence effects in the crossover design. This analysis indicated positive effects on certain respiratory characteristics including decreased disorganized breathing during wakefulness. Four (40%) of the individuals receiving naltrexone progressed one or more clinical stages versus none of the individuals receiving placebo. The adjusted (for baseline value and Rett stage) end of treatment psychomotor test age (Bayley Scales) was significantly higher for the placebo group. There was no significant change for the other parameters. Conclusion: Naltrexone may modify some of the respiratory disturbance in Rett syndrome. Declines in motor function and more rapid progression of the disorder suggest a deleterious effect.
Cloning of human anti‐GM1 antibodies from motor neuropathy patients
Authors: Willison Hugh J. , Paterson Gary , Kennedy Peter G. E. , Veitch Jean 
Published: January 2005

AbstractPatients with multifocal motor neuropathy frequently have elevated titers of serum antibodies reactive with GM1 ganglioside. Although these antibodies may cause the syndrome, this has yet to be proven directly. As part of our studies on the nature and pathogenic potential of anti‐GM1 antibodies, we have cloned B cells from the peripheral blood of 3 patients with multifocal motor neuropathy and generated four stable heterohybridoma cell lines secreting human monoclonal IgM anti‐GM1 antibodies. In this report we describe the basic properties of these monoclonal antibodies in comparison with the patient's sera from which they were derived. The antibodies all differ in their pattern of reactivity with GM1 and other Gal(β1–3)GalNAc‐containing glycoconjugates. They have widely varying thermal ranges and their reactivities are strongly influenced by the presence of accessory lipids. Affinity purification of the patient's sera with GM1 led to the identification of previously unrecognized paraproteins that were resolvable above the background of polyclonal anti‐GM1 IgM. Our data demonstrate considerable heterogeneity in the immune response to GM1 both within individual sera and between different patients, which is likely to be of importance to their role in disease pathogenesis.
Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene
Authors: Malafosse A. , Beck C. , Bellet H. , Di Capua M. , Dulac O. , Echenne B. , Fusco L. , Lucchini P. , Ricci S. , Sebastianelli R. , Feingold J. , Baldy‐Moulinier M. , Vigevano F. 
Published: January 2005

AbstractBenign infantile familial convulsions (BIFC) and benign familial neonatal convulsions (BFNC) are two forms of familial convulsions having an age of onset within the first year of life. The gene responsible for BFNC has been mapped to chromosome 20q in the close vicinity of D20S19 and D20S20 markers. We performed linkage analysis between BIFC and D20S19–D20S20 in eight families in order to know whether the BFNC gene is also implicated in BIFC. Several apparent obligate crossovers between affected members were detected. The data here presented demonstrate that the BFNC gene is not responsible for BIFC.
Zoster sine herpete, A clinical variant
Authors: Gilden Donald H. , Wright Roy R. , Schneck Stuart A. , Gwaltney Jack M. , Mahalingam Ravi 
Published: January 2005

AbstractTwo otherwise healthy immunocompetent men, ages 62 and 66 years, experienced years of radicular pain without zoster rash. An extensive search for systemic disease and malignancy was negative. Varicella‐zoster virus DNA, but not herpes simplex virus DNA, was found in the cerebrospinal fluid of the first patient 5 months after the onset of pain, and in the second patient 8 months after the onset of pain. Prolonged radicular pain without zoster rash combined with the presence of varicella‐zoster virus in the cerebrospinal fluid indicates that both men had zoster sine herpete, and strongly supports this syndrome as a clinical variant.
Hereditary motor and sensory neuropathy with calf hypertrophy is associated with 17p 11.2 duplication
Authors: Uncini A. , Di Muzio A. , Chiavaroli F. , Gambi D. , Sabatelli M. , Archidiacono N. , Antonacci R. , Marzella R. , Rocchi M. 
Published: January 2005

AbstractThe demyelinating type of hereditary motor and sensory neuropathy (HMSN I) is characterized by progressive weakness and atrophy of leg muscles. Six patients (age, 25–79 yr) belonging to three generations had calf hypertrophy (6 of 6), foot drop or difficulty with heel walking (4 of 6), pes cavus (3 of 6), absent or depressed tendon jerks in the lower limbs (4 of 6), and mild distal sensory loss (3 of 6). No other family member had leg atrophy. Motor conduction velocities ranged from 20 to 40 m/sec. Sural nerve biopsy showed loss of large myelinated fibers, numerous onion bulbs, and segmental demyelination and remyelination. Computed tomographic scans of leg muscles and histological and morphometric findings in gastrocnemius revealed true muscular hypertrophy. Southern blot and fluorescence in situ hybridization documented the duplication of the entire 17p11.2 segment associated with classical HMSN IA. The pathogenesis of muscle hypertrophy in our cases is unclear. Chronic leg muscle weakness and long‐standing partial denervation might cause calf enlargement by a combination of compensatory “work‐induced” and “stretch‐induced” fiber hypertrophy. Alternatively, that all the affected family members presented calf hypertrophy might suggest the action of a genetic factor associated with the duplication at 17p11.2.
Nerve biopsy findings in different patterns of proximal diabetic neuropathy
Authors: Said Gérard , Goulon‐Goeau Catherine , Lacroix Catherine , Moulonguet Antoine 
Published: January 2005

AbstractBesides distal symmetrical sensory polyneuropathy (DSSP), middle‐aged diabetic patients may present with focal or multifocal neuropathies, including proximal neuropathy of the lower limbs, the pathophysiological features of which are uncertain. We studied 10 non–insulin‐dependent diabetic patients, 45 to 72 years of age, who developed a painful proximal neuropathy of the lower limbs for which other causes of neuropathy were carefully excluded. The proximal neuropathy was asymmetrical in all patients, sensory in 4, motor and sensory in the others. Signs of DSSP were present in all. A sample of the intermediate cutaneous nerve of the thigh, a sensory branch of the femoral nerve, was taken by biopsy and examined by light and electron microscopy. Examination of the nerve specimens revealed ischemic nerve lesions in 3 patients. Nerve ischemia was associated with vasculitis and inflammatory infiltration in 2 of them. In the other patients the lesions of the cutaneous nerve of the thigh included a varying incidence of axonal and demyelinative lesions similar to those observed in DSSP, with mild inflammatory infiltration in 4 of them. The density of myelinated and of unmyelinated was variably decreased. This study shows that axonal and demyelinative lesions similar to those found in diabetic DSSP are present in proximal nerves in mild forms of proximal diabetic neuropathy; while nerve ischemia, inflammatory infiltration, and vasculitis are encountered in the most severe forms of proximal diabetic neuropathy.
Correlation of clinical features and findings on cranial magnetic resonance imaging with urinary myelin basic protein‐like material in patients with multiple sclerosis
Authors: Whitaker John N. , Williams Paula H. , Layton Beverly A. , McFarland Henry F. , Stone Lael A. , Smith M. E. , Kachelhofer R. David , Bradley Edwin L. , Burgard Sheila , Zhao Guojun , Paty Donald W. 
Published: January 2005

AbstractImmunoreactive material that appears to be a peptide encompassing all or a portion of residues 80 to 89 of myelin basic protein is present in normal unconcentrated urine and is increased in certain patients with multiple sclerosis (MS). Compared with normal controls, urines collected randomly from 158 MS patients or in a clinical research unit from 8 patients with MS had higher mean values of urinary MBP‐like material (MBPLM). The level of MBPLM in urine showed no direct relationship to MBPLM in cerebrospinal fluid and did not correlate with clinical relapses of disease. In the other neurological disease control group (26 patients), some patients with other inflammatory diseases, but not stroke or early phase Guillain‐Barré syndrome, also showed elevations. Among the subtypes of MS, those with secondary chronic progressive disease had the highest values. Urinary MBPLM showed no definite correlation with or effect of treatment with glucocorticoids and immunosuppressants except that a lower level of urinary MBPLM showed a weak relationship with improvement following treatment with methylprednisolone/prednisone. In a serial study of 8 patients with unenhanced cranial magnetic resonance imaging and 20 patients with gadolinium‐enhanced cranial magnetic resonance imaging, urinary MBPLM did not show a direct correlation with new or enhancing lesions. Urinary MBPLM does not parallel acute myelin damage but appears to reflect an ongoing process, possibly linked to attempted efforts at remyelination.
Elevated central nervous system prostaglandins in human immunodeficiency virus—associated dementia
Authors: Griffin Diane E. , Wesselingh Steven L. , McArthur Justin C. 
Published: January 2005

AbstractThe dementia associated with human immunodeficiency virus (HIV) is poorly understood. Dementia is accompanied by infection and activation of macrophage lineage cells in the brain and production of toxic products by these cells has been postulated to play a role in the pathogenesis of dementia. Eicosanoids are potential products of activated macrophages that can mediate cell injury. We measured the levels of prostaglandin E2 in the cerebrospinal fluid of HIV‐positive individuals with dementia and/or myelopathy and compared these levels with those of HIV‐negative patients with other neurological diseases and HIV‐positive patients without dementia. Cerebrospinal fluid prostaglandin E2 levels were increased in dementia. This increase was associated with severity of dementia and correlated with cerebrospinal fluid levels of neopterin and β2‐microglobulin. Prostaglandins F2α and thromboxane B2, additional products of the cyclooxygenase pathway of arachidonic acid metabolism, were also elevated in dementia, but leukotriene C4, a product of the lipoxygenase pathway was not. Since synthesis of prostaglandins is regulated in part by the levels of inducible forms of cyclooxygenase, we measured the levels of cyclooxygenase‐1 and 2 mRNAs in the brains of HIV‐positive individuals with and without dementia by reverse transcriptase polymerase chain reaction. Levels of intact cyclooxygenase‐1 mRNA were higher in the brains of demented individuals, but this did not reach statistical significance. These data demonstrate that prostaglandins are increased in the central nervous system in HIV‐associated dementia and may play a role in the development of neurological dysfunction.
Hereditary motor and sensory neuropathy with diaphragm and vocal cord paresis
Authors: Dyck Peter James , Litchy William J. , Minnerath Sharon , Bird Thomas D. , Chance Phillip F. , Schaid Daniel J. , Aronson Arnold E. 
Published: January 2005

AbstractWe describe two kindreds with an autosomal dominant inherited disorder characterized by a variable degree of muscle weakness of limbs, vocal cords, and intercostal muscles and by asymptomatic sensory loss, beginning in infancy or childhood in severely affected persons. Life expectancy in severely affected patients is shortened because of respiratory failure. Because nerve conduction velocities are normal and it is an inherited axonal neuropathy, we classify the disorder as a variety of hereditary motor and sensory neuropathy type II (HMSN II) (HMSN IIc). The present report provides further evidence for heterogeneity among the hereditary motor and sensory neuropathy type II disorders. In one large pedigree with the type IIc disorder, no linkage to DNA markers known to map near the HMSN IA locus on chromosome 17p or the HMSN IB locus on chromosome 1q was demonstrated.
Parkinsonism induced by solvent abuse
Authors: Uitti Ryan J. , Snow Barry J. , Shinotoh Hitoshi , Vingerhoets Francois J. G. , Hayward Margo , Hashimoto Stanley , Richmond John , Markey Sanford P. , Markey Carol J. , Calne Donald B. 
Published: January 2005

AbstractWe report the first description of a patient with parkinsonism induced by solvent abuse. Our patient developed parkinsonism acutely, following heavy abuse of lacquer thinner. Her clinical deficits wee indistinguishable from idiopathic parkinsonism (Parkinson's disease) and she responded to levodopa. Parkinsonism has persisted for more than 3 months. Brain computed tomography was normal. Positron emission tomographic studies showed normal fluorodopa uptake and reduced raclopride binding, indicating an unusual disturbance of striatal dopaminergic function. This patient suggests that organic solvents may cause parkinsonism in susceptible individuals.