bluuebunny/crossref_metadata_2025_split huggingface dataset:
Progressive multifocal leukoencephalopathy in persons infected with human immunodeficiency virus, san francisco, 1981–1989
Authors: Gillespie Sheila M. , Chang Yuan , Lemp George , Arthur Ray , Buchbinder Susan , Steimle Anthony , Baumgartner James , Rando Thomas , Neal Denesse , Rutherford George , Schonberger Lawrence , Janssen Robert 
Published: January 2005

AbstractProgressive multifocal leukoencephalopathy (PML), a rare neurological disease, has been sporadically reported in persons infected with human immunodeficiency virus (HIV), the causative agent of acquired immune deficiency syndrome (AIDS). From January 1981 through February 1989, in San Francisco, we identified 94 HIV‐infected persons with PML, of whom 48 (51%) were pathologically confirmed (as required for AIDS case reporting). These 48 patients were significantly older when diagnosed with AIDS (20% older than 50 years) than patients with AIDS without PML. The remaining 46 (49%) patients, diagnosed clinically and by neuroimaging, did not differ significantly from definitive patients in demographic or survival characteristics after PML diagnosis. We detected antibodies to JC virus, the causative agent of PML, in 9 of 14 (64%) AIDS‐related patients with PML, and in 9 of 14 (64%) matched control subjects, suggesting that determination of JC virus antibody status before AIDS diagnosis does not reliably indicate which patients will contract PML. Our study shows that the proportion of patients with AIDS who contracted PML remained stable between 1981 and 1988, but increased in the first 2 months of 1989. Our findings further indicate that PML in HIV‐infected patients may be underestimated by as much as 50%.
Expression patterns of β‐amyloid precursor protein (β‐APP) in neural and nonneural human tissues from alzheimer's disease and control subjects
Authors: Arai Hiroyuki , Lee Virginia M.‐Y. , Messinger Meridith L. , Greenberg Barry D. , Lowery David E. , Trojanowski John Q. 
Published: January 2005

AbstractBoth neural and nonneural human tissues from patients with or without Alzheimer's disease (AD) were surveyed to detect the presence of the β‐amyloid protein and its precursors. This was accomplished using polyclonal and monoclonal antibodies to epitopes in the 695 amino acid long β‐APP (i.e., β‐APP695), as well as in related β‐APPs. Immunoreactivity in β‐APP in brain was prominent in senile plaques, extraneuronal tangles, and neurons. Outside the brain, β‐APP staining was seen in neurons and satellite glial cells of the dorsal root, enteric and trigeminal gangila, the adeno‐and neurohypophysis, megakaryocytes, and adrenal gland in samples from patients with AD and those without AD. Western blots of neocortex revealed three major proteins with apparent molecular masses of 105, 115, and 125 kDa in the insoluble membrane‐associated fractions, while two broad bands with a molecular weight centered at about 100 and 120 kDa were detected in soluble fractions. In addition, the pituitary and adrenal glands as well as cardiac muscle revealed prominent immunobands in membrane‐associated fractions. Notably, other nonneural tissues were devoid of β‐APP immunoreactivity. Thus, the β‐APPs are detectable only in a limited number of nonneural tissues. Taken together, these data suggest that β‐APPs produced in the brain are sources of β‐APP peptides that accumulate as senile plaques in AD.
Codon 618 variant of alzheimer amyloid gene associated with inherited cerebral hemorrhage
Authors: Fernandez‐Madrid Ivan , Levy Efrat , Marder Karen , Frangione Blas 
Published: January 2005

AbstractHereditary cerebral hemorrhage with amyloidosis, Dutch type (HCHWA‐D) is an autosomal dominant form of severe cerebrovascular amyloid angiopathy causing recurrent strokes during the fifth and sixth decades of life. The major constituent of the amyloid deposits in HCHWA‐D is the amyloid β‐protein (Aβ), also found in Alzheimer's disease. A point mutation in the DNA sequence encoding Aβ has been found in 2 unrelated patients with HCHWA‐D, and an assay detecting the single base change was developed for diagnostic purposes. We describe the detection of the point mutation in a patient living in the United States, suffering from recurring cerebral hemorrhages, who only recently was diagnosed with HCHWA‐D. In addition, we tested a number of family members, and found the mutation in 2 additional individuals, one of them too young to exhibit clinical manifestations. This study combined with the study of two other families in Holland indicates that the codon 618 variant in the amyloid precursor protein gene segregates with HCHWA‐D.
Reflex activity and muscle tone during elbow movements in patients with spastic paresis
Authors: Dietz V. , Trippel M. , Berger W. 
Published: January 2005

AbstractReflex behavior and tension development in upper limb muscles were analyzed and comparisons made between the unaffected and spastic sides of patients with spastic hemiparesis. During sinusoidal (0.3‐Hz) isometric or isotonic elbow tracking, with a control either of joint position or of torque, randomly timed displacements were induced (at one of three velocities) stretching either the activated flexor or the extensor muscles. On the spastic side, exaggerated short‐latency reflexes were apparent, but in contrast, the amplitude of long‐latency electromyography (EMG) responses was reduced. The latter responses were differentially modulated on the unaffected side, predominantly by the acceleration signal during control of position and more by the velocity signal during control of torque, while the mode of muscle contraction (isometric or isotonic) had little influence on this behavior. This difference in reflex modulation was lost on the spastic side. The functional consequence of this reduced EMG modulation could be difficulty in performing finely controlled arm movements. The ratio of torque to EMG activity during displacements was higher for both background and reflex‐induced EMG on the spastic limb than on the unaffected side. This effect was more pronounced for the flexor than for the extensor muscles. Consequently, the development of spastic muscle hypertonia cannot be attributed to an increase in EMG activity. It is suggested that secondary to a supraspinal lesion, mechanical muscle properties change in such a way that the activated spastic muscle develops more tension when it is stretched.
Parkinsonian bradykinesia is due to depression in the rate of rise of muscle activity
Authors: Godaux E. , Koulischer D. , Jacquy J. 
Published: January 2005

AbstractParkinsonian bradykinesia is defined by a slowness in the execution of movement. We studied the pathophysiology of this symptom in rapid arm‐reaching movements to a visual target carried out in a reaction‐time task. The major cause of bradykinesia was found to be depression in the rate of rise of electromyographic activity. The amplitude of the peak of this activity did not change significantly. There was no change either in the sequential activation of muscles, in the amount of co‐contraction activity, in the accurary of aim toward the visual target, or in the movement trajectory.
Parietal lobe epilepsy: Diagnostic considerations and results of surgery
Authors: Williamson P. D. , Boon P. A. , Thadani V. M. , Darcey T. M. , Spencer D. D. , Spencer S. S. , Novelly R. A. , Mattson R. H. 
Published: January 2005

AbstractEleven patients, evaluated between 1983 and 1988, with parietal lobe seizure origin as determined by circumscribed lesion detection in all and successful surgery in 10, were retrospectively evaluated in terms of clinical seizure characteristics and electroencephalographic (EEG) findings. Seven of 11 patients reported auras prior to seizures. In 4 patients, auras were lateralized somatosensory sensations, but in 1 they were ipsilateral to the side of seizure origin, and in 2 they had only occurred many years previously when seizures began. Other auras were either nonspecific or suggested seizure origin outside of the parietal lobe. Observed seizures were of two types: asymmetrical tonic seizures with or without clonic activity and complex partial seizures with loss of contact and automatisms. Four patients had only the first type of seizure and an equal number had only the second type. Three patients had both types of seizures during different episodes. Scalp EEGs correctly localized the side and region of seizure onset in only 1 patient. Three additional patients with congruent parietal localization on scalp EEG had additional misleading EEG findings. All patients had lesions detected with neuroimaging, but in 5 this detection occurred after they had been initially evaluated. These 5 patients had intracranial EEG studies designed to localize the region of seizure origin, and correct seizure onset localization was achieved in 2. Of the other 3 patients, false localization occurred in 1, and 2 could not be localized. Four patients with known lesions and 2 of the patients in whom lesions were detected after initial intracranial evaluations were studied with subdural grid electrodes placed over the lesions. Seizures were recorded during monitoring in all 6 patients, but seizure origin was well localized in only 1. One patient with false localization had a temporal lobectomy, and 2 unlocalized patients had partial corpus callosotomies. Surgery was ineffective in all 3. Surgery aimed at lesion resection in 10 patients (including 2 who had had preious procedures) resulted in all 10 patients becoming seizure‐free with minimal or no neurological deficits. We conclude that (1) a syndrome of parietal lobe epilepsy based on clinical and scalp EEG findings could not be defined in this series of 11 patients; (2)intracranial EEG findings are often not helpful and sometimes misleading, even when parietal lesions are known or suspected; (3) when circumscribed parietal lobe lesions are detected they are the cause of the patient's seizures regardless of seizure type and EEG findings; and (4) guided by the results of functional mapping, parietal lobe lesions can be safely resected with excellent surgical results.
Localization of extratemporal epileptic foci during ictal single photon emission computed tomography
Authors: Marks David A. , Katz Amiram , Hoffer Paul , Spencer Susan S. 
Published: January 2005

AbstractWe obtained single photon emission computed tomography (SPECT) scans with technetium‐99M‐hexamethyl‐propylene‐amine‐oxime in 11 patients during 12 extratemporal partial seizures (9 simple partial, 3 complex partial). Ten ictal SPECT studies in 9 patients showed a focal region of hyperperfusion, which agreed with electrical seizure onset in 5 and with clinical seizure localization in 4 in whom ictal electroencephalography was not localized. Contralateral cerebellar and ipsilateral basal ganglia hyperperfusion was seen in 3 patients with a frontal lobe seizure focus. Ictal hyperperfusion was well circumscribed, unlike the diffuse hyperperfusion changes reported during temporal lobe seizures. This observation may indicate a different degree of seizure spread in temporal as opposed to extratemporal epilepsy. Because electroencephalographic localization is often elusive in extratemporal seizures, ictal SPECT may be very helpful for the localization of extratemporal foci.
Cortically evoked motor responses in patients with Xp22.3‐linked Kallmann's syndrome and in female gene carriers
Authors: Danek Adrian , Heye Babett , Schroedter Robert 
Published: January 2005

AbstractPatients with Kallmann's syndrome show hypothalamic hypogonadism, hyposmia, and congenital mirror movements. As a correlate, a defect of gonadotropic neuron migration into the brain was recently detected. Considering abnormal outgrowth of neurons also as a possible substrate underlying mirror movements, we studied 3 patients and 2 asymptomatic female gene carriers from a kindred with proven linkage to Xp22.3, using focal transcranial magnetic stimulation of motor cortex hand areas with a figure‐eight coil. In all 3 affected brothers, bilateral responses could be evoked almost simultaneously in their thenar muscles (slight latency differences were statistically insignificant). In contrast, the mother and the maternal aunt showed only unilateral, normal thenar responses, even with maximum tolerable stimulator output and high signal amplification. Correspondingly, mirror movements were present in the patients, but not in the gene carriers. Bilaterality of cortically evoked hand muscle responses and mirror movements, therefore, behaved as X‐chromosomal recessive traits. A likely cause might be a disorder of neuronal outgrowth in the motor system, particularly of inhibitory callosal fibers. For normal anatomical development of the motor system, one intact Xp22.3 gene seems necessary.
Electroconvulsive therapy treatment of depression in a patient with adult GM2 gangliosidosis
Authors: Renshaw Perry F. , Stern Theodore A. , Welch Charles , Schouten Ronald , Kolodny Edwin H. 
Published: January 2005

AbstractAdult GM2 gangliosidosis is a rare disorder that often presents with both neurological and psychiatric syndromes. Effective treatment of the psychotic and affective symptoms associated with this disorder has been complicated by poor treatment response and the concern that many psychotropic agents may worsen the underlying gangliosidosis. We report the successful use of electroconvulsive therapy for treatment of severe depression in a young man with adult GM2 gangliosidosis.
Chronic neuroleptic treatment: D2 dopamine receptor supersensitivity and striatal glutamatergic transmission
Authors: Calabresi Paolo , De Murtas Marco , Mercuri Nicola Biagio , Bernardi Giorgio 
Published: January 2005

AbstractWe studied the in vitro electrical activity of rat neostriatal neurons following chronic neuroleptic treatment. In haloperidol‐treated rats, unlike naive animals, activation of neostriatal D2 dopamine receptors induced a potent presynaptic inhibition of glutamate‐mediated excitatory synaptic potentials. Haloperidol treatment did not affect the intrinsic membrane properties of the neostriatal neurons. Pre‐ and postsynaptic physiological responses to direct and indirect gamma‐aminobutyric acid (GABA)–ergic and cholinergic agonists were not affected by chronic haloperidol treatment. These findings suggest that movement disorders induced by chronic neuroleptic treatment may result, at least in part, from a hypersensitivity of presynaptic D2 dopamine receptors regulating the release of glutamate.
Motor dyscontrol in narcolepsy: Rapid‐eye‐movement (REM) sleep without atonia and REM sleep behavior disorder
Authors: Schenck Carlos H. , Mahowald Mark W. 
Published: January 2005

AbstractNarcolepsy involves abnormalities of rapid‐eye‐movement (REM) sleep, including a short latency to the onset of REM sleep, hypnagogic hallucinations, and sleep paralysis. In addition, persistence of muscle tone by electromyographic criteria or excessive muscle twitching during REM sleep or both have been reported in treated and untreated narcoleptic patients. We report that another previously described abnormality of REM sleep, REM sleep behavior disorder, may also be a symptom of narcolepsy. This disorder was found in 10 narcoleptic patients during routine clinical evaluations involving polysomnography and multiple sleep latency tests. During REM sleep, 7 additional narcoleptic patients displayed persistent muscle tone and/or excessive twitching, which we believe to be subclinical components of REM sleep behavior disorder. These 17 patients, diagnosed by established criteria for narcolepsy and for REM sleep behavior disorder, ranged in age from 8 to 74 years. Seventy‐one percent were male. Narcolepsy and REM sleep behavior disorder most commonly emerged in tandem. In 3 patients, treatment of narcolepsy‐cataplexy with stimulants and tricyclics either induced or exacerbated REM sleep behavior disorder.
L‐2‐hydroxyglutaric acidemia: A novel inherited neurometabolic disease
Authors: Barth Peter G. , Hoffmann Georg F. , Jaeken Jaak , Lehnert Willy , Hanefeld Folker , Van Gennip Albert H. , Duran Marinus , Valk Jaap , Schutgens Ruud B. H. , Trefz Friedrich K. , Reimann Gabriele , Hartung Hans‐Peter 
Published: January 2005

AbstractRoutine screening for organic acids revealed increased and isolated urinary excretion of L‐2‐hydroxyglutaric acid in 8 mentally retarded patients from five unrelated families, including three pairs of siblings. L‐2‐Hydroxyglutaric acid concentration was also found to be increased in the cerebrospinal fluid (CSF) and to a lesser extent in plasma. The only other biochemical abnormality was an increased concentration of lysine, both in plasma and in CSF. No organic acid abnormality was found on screening of asymptomatic family members. Patients were of either sex, and became symptomatic during childhood, with moderate to severe mental deficiency in all and definite cerebellar dysfunction in 7. Magnetic resonance imaging revealed an identical abnormal pattern with subcortical leukoencephalopathy, cerebellar atrophy, and signal changes in the putamina and dentate nuclei, in all patients. No specific biochemical function or catabolic pathway involving L‐2‐hydroxyglutaric acid is known in mammals, including humans. Preliminary loading and dietary studies failed to reveal the origin of the compound. The elevated CSF/plasma ratio suggests that it is in part generated within the central nervous system. This report describes a novel inherited neurometabolic disease, probably autosomal recessive, with distinct clinical, biochemical, and neuroimaging features.
Spontaneous remission of a third‐nerve palsy in meningeal lymphoma
Authors: Galetta Steven L. , Sergott Robert C. , Wells Gregg B. , Atlas Scott W. , Bird Shawn J. 
Published: January 2005

AbstractWe report on a patient with spontaneous remission of a third‐nerve palsy who was subsequently found to have meningeal lymphoma. Initial magnetic resonance images (MRI) showed bilateral enhancement of the third nerves. Follow‐up MRI 7 months later, without treatment, showed complete resolution. One year after initial presentation, the patient developed multiple lumbosacral radiculopathies and examination of a nerve root biopsy specimen disclosed a B‐cell lymphoma. Serial cerebrospinal fluid analyses over the previous year showed occasional atypical cells, later found to resemble closely the biopsy cell type. We conclude that meningeal lymphoma may have a protracted course, with spontaneous remission of both clinical and neuroimaging findings.
Detection of Epstein‐Barr virus in the brain by the polymerase chain reaction
Authors: Pedneault Louise , Katz Ben Z. , Miller George 
Published: January 2005

AbstractEpstein‐Barr virus (EBV) has been implicated in a variety of central nervous system syndromes. In a few well‐studied patients, EBV has been detected by viral isolation or EBV DNA has been found by Southern hybridization analysis. Using polymerase chain reaction, we evaluated brain biopsy specimens from 24 patients for the presence of EBV genomes. EBV DNA was found in brain specimens from 18 patients in whom presence of the virus in the brain was suspected clinically or on the basis of serological tests. Six patients had acquired immunodeficiency syndrome; 2 were kidney transplant recipients. Brain specimens from 4 patients with encephalitis due to other herpes group viruses and from a patient with metabolic encephalopathy were negative for EBV DNA as determined by polymerase chain reaction. The findings indicate a need to evaluate the role of EBV in diverse neurological syndromes, especially those occurring in immunodeficient hosts.
The persistent vegetative state in children: Report of the child neurology society ethics committee
Authors: Ashwal Stephen , Bale James F. , Coulter David L. , Eiben Robert , Garg Bhuwan P. , Hill Alan , Myer Edwin C. , Nordgren Richard E. , Shewmon D. Alan , Sunder Theodore R. , Walker Russell W. 
Published: January 2005

AbstractIncreasing concern about children in a persistent vegetative state (PVS) prompted a survey of members of the Child Neurology Society regarding aspects of the diagnosis and management of this disorder. Major findings of those responding to this survey (26% response rate) were as follows: (1) 93% believed that a diagnosis of PVS can be made in children, but only 16% belived that this applied to infants younger than 2 months and 70% in the 2‐month to 2‐year group; (2) a period of 3 to 6 months was belived to be the minimum observation period required before a diagnosis of PVS could be made; (3) 86% believed that the age of the patient would affect the duration of time needed to make the diagnosis of PVS; (4) 78% thought a diagnosis of PVS could be made in children with severe congenital brain malformations; (5) 75% believed that neurodiagnostic studies would be of value and supportive of the clinical diagnosis of PVS; (6) members' opinions as to the average life expectancy (in years) for the following age groups after the patients were considered vegetative were: newborn to 2 months, 4,1;2 months to 2 years, 5.5; 2 to 7 years, 7.3; and more than 7 years, 7.4; (7) 20% believed that infants and children in a PVS experience pain and suffering; and (8) 75% “never” withhold fluid and nutrition from infants and children in a PVS and 28% “always” give medication for pain and suffering. The data suggest that child neurologists believe PVS can be diagnosed in children after 2 years of age, but that in younger children a more cautious approach is indicate. The findings suggest reasonable agreement concerning many of these issues, and it may be possible at this time to develop a position statement on the medical aspects of PVS in children.
HTLV‐I‐specific cytotoxic T lymphocytes in the cerebrospinal fluid of patients with HTLV‐I‐associated neurological disease
Authors: Jacobson Steven , McFarlin Dale E. , Robinson Susan , Voskuhl Rhonda , Martin Roland , Brewah Alfred , Newell Amy J. , Koenig Scott 
Published: January 2005

AbstractRecently, it has been shown that in patients with human T‐cell lymphotropic virus type I (HTLV‐I)–associated neurological disease, high levels of HTLV‐I–specific cytotoxic T lymphocytes (CTLs) could be detected in the peripheral blood. These CTLs predominantly recognized products of the pX region of HTLV‐I, had a CD8+ phenotype, and were human leukocyte class I restricted. Moreover, these responses were not detected in asymptomatic, HTLV‐I–seropositive individuals. This implied a role for these CTLs in the pathogenesis of the neurological disorder associated with HTLV‐I. We have extended these observations by demonstrating HTLV‐I–specific CTLs directly from lymphocytes obtained from the cerebrospinal fluid of patients with HTLV‐I–associated myelopathy/tropical spastic parapare‐sis. Uncultured cerebrospinal fluid lymphocytes were used directly as effectors on a variety of targets expressing HTLV‐I. These cells were lysed in a virus‐specific and HLA class I‐restricted manner. Moreover, the cerebrospinal fluid lymphocytes were sorted into purified CD8+ populations, cloned by limiting dilution, and assayed for CTL activity. An exceedingly high proportion of these resultant lines were shown to be cytolytic and precursor frequency analysis indicated that as many as 1 in 500 cells were HTLV‐I–specific CTLs. The majority of these CTL lines recognized HTLV‐I gene products encoded within the pX region of HTLV‐I. The significance of these HTLV‐I–specific CTLs in the central nervous system of patients with HTLV‐I–associated neurological disease is discussed with regard to the potential role of CTLs in the pathogenesis of this disease.