bluuebunny/crossref_metadata_2025_split huggingface dataset:
Chronic demyelinating peripheral neuropathy in cerebrotendinous xanthomatosis
Authors: Argov Z. , Soffer D. , Eisenberg S. , Zimmerman Y. 
Published: January 2005

AbstractThree siblings with chemically proved cerebrotendinous xanthomatosis presented with typical neurological manifestations of dementia and spinocerebellar disorder. Electrodiagnostic tests revealed demyelinating neuropathy in all three. Sural nerve biopsies showed loss of myelinated large fibers, marked Schwann cell proliferation, and onion bulb formation. Teased‐fiber preparations confirmed the occurrence of segmental demyelination and remyelination. We suggest that demyelinating neuropathy is part of the neurological spectrum of cere‐brotendinous xanthomatosis and should be considered in the differential diagnosis of a recessively inherited motor and sensory neuropathy.
Duodenal delivery of levodopa for on‐off fluctuations in parkinsonism: Preliminary observations
Authors: Kurlan Roger , Rubin Allen J. , Miller Charlyne , Rivera‐Calimlim Leonor , Clarke Allan , Shoulson Ira 
Published: January 2005

AbstractThe pathogenesis of on‐off motor fluctuations in parkinsonism remains incompletely understood, but slowed or erratic gastric emptying of orally administered levodopa may be involved. In 3 patients with resistant on‐off fluctuations, direct duodenal continuous infusion of levodopa via a nasoduodenal tube resulted in a heightened therapeutic effect, including a reduction in motor fluctuations. In 1 of these patients, continuous duodenal levodopa infusion produced greater benefit than did intermittent duodenal levodopa administration. Direct duodenal delivery of levodopa lessens the problems with gastric emptying and may be suitable for long‐term therapy in selected patients with resistant on‐off motor fluctuations.
Neuropeptide Y immunoreactivity is reduced in cerebral cortex in Alzheimer's disease
Authors: Beal M. Flint , Mazurek Michael F. , Chattha Geetinder K. , Svendsen Clive N. , Bird Edward D. , Martin Joseph B. 
Published: January 2005

AbstractNeuropeptide Y is a 36–amino acid peptide that is found in high concentrations in cerebral cortex and is contained in cortical neurons. We measured concentrations of this peptide in postmortem tissue from patients with Alzheimer's disease and controls using a sensitive and specific radioimmunoassay. High‐performance liquid chromatography showed that more than 95% of immunoreactivity co‐migrated with synthetic standards in both Alzheimer's disease and control frontal cortex. Significant reductions in neuropeptide Y–like immunoreactivity were found in eleven cortical regions, the hippocampus, and the locus ceruleus. The regions particularly affected included the temporal lobe, frontal lobe, and occipital cortex. As neuropeptide Y is co‐localized with somatostatin in a considerable proportion of cortical neurons, the loss of immunoreactivity may in part reflect degeneration of these neurons. Further study of the selective vulnerability of these neurons in Alzheimer's disease cortex may provide clues to the nature of the underlying disease process.
Immunohistochemical identification of HTLV‐III antigen in brains of patients with AIDS
Authors: Gabuzda Dana H. , Ho David D. , de la Monte Suzanne M. , Hirsch Martin S. , Rota Teresa R. , Sobel Raymond A. 
Published: January 2005

AbstractHuman T‐cell lymphotropic virus type III (HTLV‐III) has been isolated from neural tissues and cerebrospinal fluid (CSF) of patients with neurological syndromes associated with the acquired immune deficiency syndrome (AIDS) and the virus may be directly involved in the pathogenesis of the syndromes. To detect HTLV‐III antigen in neural tissues from patients with AIDS, immunoperoxidase studies using a goat anti‐HTLV‐III serum were performed on frozen tissue sections of brain, spinal cord, and nerve from 13 patients with AIDS or HTLV‐III–related neurological syndromes. HTLV‐III was cultured from neural tissues or CSF in 11 of 13 of these patients. HTLV‐III antigen was detected in the brains of 5 patients with AIDS and in none of the 13 non‐AIDS control subjects. Rare positively stained cells were seen, frequently associated with capiilaries and often located near microglial nodules. Morphologically, the cells resembled monocyte/macrophages and were found most frequently in the cortex of the frontal, temporal, and parietal lobes. These results provide further evidence that the subacute encephalitis of AIDS is associated with central nervous system infection by HTLV‐III and that monocyte/macrophages are among the infected cell populations.
Glial growth factor—like activity in Schwann cell tumors
Authors: Brockes Jeremy P. , Breakefield Xandra O. , Martuza Robert L. 
Published: January 2005

AbstractTo determine whether glial growth factor (GGF)–like activity is associated with human Schwann cell tumors, we tested extracts from these tumors for their ability to stimulate the proliferation of rat Schwann cells in culture. Extracts from 3 of 3 bilateral acoustic neuromas and from 5 of 7 unilateral acoustic neuromas demonstrated dose‐dependent stimulation similar to that of partially purified bovine pituitary GGF. One neurofibroma also contained high levels of GGF‐like activity, one demonstrated an intermediate level, and three showed low or no activity. Minimal activity was found in one neurofibrosarcoma and in one trigeminal schwannoma. Non–Schwann cell tumors studied included 3 meningiomas, 2 pituitary adenomas, 1 cerebellar astrocytoma, 1 glioblastoma, 1 hemangioblastoma, and 2 metastatic brain tumors. The cerebellar hemangioblastoma demonstrated high GGF‐like activity; the others showed little or no activity. Normal tissues used as control specimens included brain, peripheral nerve, muscle, and fat. Some activity was noted in one nerve biopsy; all others showed minimal or no GGF‐like activity. High‐performance liquid chromatography demonstrated that the GGF‐like activity from two acoustic neuromas eluted in a single peak close to that of bovine pituitary GGF. We conclude that acoustic neuromas contain a factor that is closely related to bovine pituitary GGF and that this factor may have a role in the abnormal proliferation of Schwann cells in these tumors.
Borderzone infarctions distal to internal carotid artery occlussion: Prognostic implications
Authors: Bogousslavsky J. , Regli F. 
Published: January 2005

AbstractBilateral watershed (WS) infarction at the borderzone of the middle cerebral artery territory are typically related to severe hypotensive events. Unilateral WS infarctions have sometimes been reported in occlusion of the ipsilateral internal carotid artery (ICA), but their pathogenesis and prognostic implications are poorly known. Twenty‐six of 154 (17%) consecutive patients with ICA occlusion had a computed tomography–proved ipsilateral WS infarct. Severe active heart disease with hypotension and syncope (p < 0.0001), severe contralateral ICA disease (p < 0.001), and elevated venous hematocrit values (p < 0.001) related to heavy smoking were more frequent in the patients with WS infarction than in other patients. Delayed infarctions in the territory of the main branches of the middle cerebral artery distal to the ICA occlusion correlated with a visible stump or emboligenic changes (ulcerated or irregular stenosis) on the collateral channels, but this was not true for delayed WS infarctions. These findings suggest that most of the WS infarctions were hemodynamic. The patients with WS infarct had a higher death rate (9.9% per year) than did the patients without WS infarct (2.3% per year), suggesting that heart disease should be particularly closely managed in patients with WS infarctions. As WS infarctions were the most frequent type of infarction distal to an occluded ICA, appropriate treatment of all potential causes of systemic hemodynamic disturbances may be crucial in the long‐term management of patients with ICA occlusion.
Bilateral lucency of the globus pallidus complicating methylmalonic acidemia
Authors: Korf Bruce , Wallman James K. , Levy Harvey L. 
Published: January 2005

AbstractA child was seen because of encephalopathy and metabolic ketoacidosis at 19 months. She was found to have a cobalamin‐responsive form of methylmalonic acidemia of the cbl A complementation group. However, after treatment with cyanocobalamin and a protein‐restricted diet, with recovery from the encephalopathy, she was found to have a tremor and bilateral dystonic posturing in association with lucencies in the globus pallidi shown by computed tomographic scan.
Saccadic eye movement dysfunction in Alzheimer's disease
Authors: Fletcher William A. , Sharpe James A. 
Published: January 2005

AbstractSaccades were measured by magnetic search coil technique in 13 patients with Alzheimer's disease and compared with those of 11 age‐matched control subjects. We analyzed responses to target motion of predictable and unpredictable timing or amplitude, and responses to briefly flashed targets. Latencies were significantly prolonged and peak velocities reduced only when the timing of target motion was unpredictable. Saccades to predictable amplitude targets were abnormally hypometric. In 8 patients, impersistence of gaze was manifested by large‐amplitude saccadic intrusions away from the intended position of gaze. When instructed to make saccades away from a flashed target, patients made reflexive saccades toward the target. We attribute this visual grasp reflex to frontal lobe degeneration. These eye movement deficits can be used to quantify motor dysfunction in Alzheimer's disease.
Neurofibrillary degeneration of cholinergic and noncholinergic neurons of the basal forebrain in Alzheimer's disease
Authors: Rasool C. G. , Svendsen Clive N. , Selkoe Dennis J. 
Published: January 2005

AbstractTwo principal features of Alzheimer's disease (AD) are (1) the occurrence of neurofibrillary tangles (NFTs) and senile plaques, and (2) the loss of cortical cholinergic activity because of dysfunction of neurons in the basal forebrain cholinergic system. The relationship of these two abnormalities is an unresolved issue in the pathology of AD. We used polyclonal antibodies specific for paired helical filaments (PHFs), combined with acetylcholinesterase (AChE) histochemistry, to assess the cytoskeletal changes of cholinergic and noncholinergic neurons in the basal forebrain in AD. In both sporadic and familial AD, the nucleus basalis of Meynert (nbM) showed a marked decrease in AChE‐positive (AChE+) perikarya and abundant immunoreactive NFTs. In double‐labeling studies of the nbM, PHF reactivity was found both in surviving AChE+ neurons and in many AChE− NFTs that were not associated with microscopically recognizable cell structures. Some surviving AChE+ perikarya did not contain NFTs. Numerous NFTs and senile plaques were identified by PHF immunoreactivity in other basal forebrain areas, including subnuclei of the amygdala that showed low or absent AChE activity. We conclude that (1) the dysfunction and death of cholinergic neurons in the nbM is associated with extensive NFT formation, including apparently residual NFTs in loci where nbM neurons once existed; and (2) many noncholinergic neurons and neurites in the basal forebrain show NFT and senile plaque formation. The cytopathology of AD involves neurons of varying transmitter specificities, including cholinergic neurons in the basal forebrain.
Widespread reduction of somatostatin‐like immunoreactivity in the cerebral cortex in Alzheimer's disease
Authors: Beal M. Flint , Mazurek Michael F. , Svendsen Clive N. , Bird Edward D. , Martin Joseph B. 
Published: January 2005

AbstractAlthough several studies have documented reduced concentrations of somatostatin‐like immunoreactivity (SLI) in the cerebral cortex in Alzheimer's disease, there is controversy concerning the extent and importance of these changes. We measured SLI in brains obtained post mortem from 12 patients with pathologically confirmed Alzheimer's disease and from 13 neurologically normal controls. All major cortical and subcortical regions were examined. Widespread reductions of SLI in Alzheimer's disease cerebral cortex were found, with the most profound changes seen in temporal lobe; but there also were major reductions in both the frontal and occipital cortex. There were no significant reductions in subcortical regions. Characterization of SLI by high‐pressure liquid chromatography showed no significant difference in profiles between Alzheimer's disease and control frontal cortex. These results suggest that the reduction in somatostatin immunoreactivity in Alzheimer's disease may be caused by degeneration of intrinsic somatostatin cortical neurons.
X‐linked neuropathy: Gene localization with DNA probes
Authors: Fischbeck Kenneth H. , ar‐Rushdi Nada , Pericak‐Vance Margaret , Rozear Marvin , Roses Allen D. , Fryns J. P. 
Published: January 2005

AbstractWe used probes for DNA polymorphisms on the X chromosome to study genetic linkage in four families with X‐linked neuropathy. Despite clinical variability, all four families showed the same linkage pattern. We found evidence in each family of linkage to the marker DXYS1 on the proximal long arm of the X chromosome, as reported by others. We also found linkage to p58—1 (DXS14) on the proximal short arm. We found only loose linkage or nonlinkage to nine other markers located elsewhere on the chromosome. Our analysis places the gene defect for this disorder in the region of DXYS1 and p58—1, near the centromere of the X chromosome.
Creutzfeldt‐Jakob disease: Clinical analysis of a consecutive series of 230 neuropathologically verified cases
Authors: Brown Paul , Cathala Françoise , Castaigne Paul , Gajdusek D. Carleton 
Published: January 2005

AbstractIn this consecutive series of 230 patients with neuropathologically verified Creutzfeldt‐Jakob disease (CJD), the disease was found to affect men and women with approximately equal frequency in a peak plateau between the ages of 55 and 75 years (mean, 61.5 years). Familial cases accounted for 4 to 8% of the total series. Nonspecific prodromal symptoms occurred in one third of the patients, and the neurological presentation, although usually a gradually evolving mental deterioration, was of rapid onset in 20% of patients and in 36% of patients consisted exclusively of neurological symptoms. The great majority of these symptoms were of cerebellar or visual origin. Extrapyramidal muscular rigidity, myoclonus, and characteristic periodic electroencephalographic (EEG) complexes were observed comparatively late in the illness, and some type of involuntary movement or periodic EEG activity was seen in over 95% of the patients. The median duration of illness was 4 months (mean, 7.6 months); 90% of patients died within a year of onset.
A postmortem study of amino acid neurotransmitters in Alzheimer's disease
Authors: Ellison David W. , Beal M. Flint , Mazurek Michael F. , Bird Edward D. , Martin Joseph B. 
Published: January 2005

AbstractConcentrations of putative neurotransmitter amino acids were measured in postmortem brains from 10 patients with Alzheimer's disease and 10 controls. Glutamate, aspartate, taurine, γ‐aminobutyric acid (GABA), and alanine levels were examined in 9 cortical regions, hippocampus, thalamus, and basal ganglia using high‐performance liquid chromatography with electrochemical detection. There were no significant alterations in aspartate, taurine, or alanine levels in any of the regions examined. Widespread significant reductions in cortical GABA concentrations were observed in the Alzheimer's brains, with the largest decreases in the temporal lobe. Overall values for glutamate concentrations in temporal and frontal cortices showed a significant 12% reduction in Alzheimer's brains, but the only individual cortical region showing a significant reduction in glutamate was the inferior temporal gyrus. These results suggest that γ‐aminobutyric acidergic neurons in Alzheimer's cerebral cortex may be selectively vulnerable to the disease process.
Incidence, clinical features, and prognosis in Bell's palsy, Rochester, Minnesota, 1968–1982
Authors: Katusic Slavica K. , Beard C. Mary , Wiederholt W. C. , Bergstralh Erik J. , Kurland Leonard T. 
Published: January 2005

AbstractThe average annual incidence of Bell's palsy per 100,000 population in Rochester, Minnesota, for 1968 through 1982 was 25.0 for both sexes combined; crude rates for males and females were 22.8 and 26.9, respectively, based on 85 males and 121 females. The relationship between various clinical features, patient characteristics, and the type of recovery was analyzed. In 206 patients, 28 (14%) experienced incomplete recovery and 178 (86%) had complete recovery, based on evidence in the medical records. Using logistic regression, complete facial weakness, non‐ear pain, and hypertension were identified as the most important risk factors for incomplete recovery. Patients were divided into two groups for comparison of treatment results; one group (n = 94) was without any of the three identified risk factors, and the other group (n = 112) consisted of patients who had one or more risk factors. Results suggested that among the latter group, those treated with steroids fared better than those in any of the other treatment groups.
Spontaneous vertical eye movements in coma
Authors: Rosenberg Michael L. 
Published: January 2005

AbstractPatients in coma may exhibit several different types of spontaneous ocular movements. Three forms of spontaneous vertical movements have been distinguished based on the relative velocities of their downward and upward phases. The pathophysiological basis of all these movements has remained obscure. Two patients are reported who demonstrated all three types of spontaneous vertical movements (ocular bobbing, ocular dipping, and reverse ocular bobbing), implying that the movements may all be differing manifestations of the still unknown pathophysiological process.
Oculomasticatory myorhythrma: A unique movement disorder occurring in Whipple's disease
Authors: Schwartz Michael A. , Selhorst John B. , Ochs Alfred L. , Beck Roy W. , Campbell William W. , Harris J. Kim , Waters Barry , Velasco Manuel E. 
Published: January 2005

AbstractWe describe two patients and a previously reported patient who acquired unique pendular vergence oscillations of the eyes and concurrent contractions of the masticatory muscles, i.e., oculomasticatory myorhythmia (OMM). The smooth disjunctive eye movements cycled with a frequency of 0.8 to 1.2 Hz. An analysis of peak velocities (15 to 200 degrees/sec) with respect to peak amplitudes (5 to 25 degrees) revealed dynamics characteristic of normal vergence movements. The pathological alterations resulting in pendular vergence oscillations implicate a separately functioning, physiologically normal vergence system within the brainstem. In addition to paralysis of vertical gaze, each patient also experienced progressive somnolence and intellectual deterioration. An intestinal biopsy in 1 patient established a diagnosis of Whipple's disease, which led to appropriate treatment and amelioration of the OMM. A pathological diagnosis of Whipple's disease of the central nervous system was made in the other 2 patients; results of an intestinal biopsy in one of these patients were normal. No patient had palatal myoclonus, and olivary pseudohypertrophy was not found in two autopsy examinations. Thus, OMM is a distinct movement disorder and has been recognized only in Whipple's disease. We conclude that patients with OMM should be treated presumptively for Whipple's disease of the central nervous system, even if a jejunal biopsy is normal.
Correlates of early disability in Huntington's disease
Authors: Mayeux Richard , Stern Yaakov , Herman Andrew , Greenbaum Linda , Fahn Stanley 
Published: January 2005

AbstractFunctional disability in Huntington's disease usually results from a combination of the movement disorder, intellectual decline, and psychopathological changes, but the unique contribution of each element has never been investigated. The Shoulson‐Fahn functional capacity rating scale measures independence in such daily activities as eating, dressing, and managing personal finances, and is used to stage the illness and follow its progression. To determine which problems contribute most to reduced functional capacity as the disease evolves, we reviewed the records of 48 consecutive patients who were evaluated for intellectual and emotional status and motor disability. Each patient was staged and rated for functional capacity at the time of the examinations. Thirty‐three of these patients were followed over several years with repeat evaluations at 6‐month intervals. Intellectual impairment and depression correlated significantly with reduced functional capacity. However, when the somatic symptoms of depression were eliminated from the analysis, its relationship to functional capacity was no longer significant. Duration of illness, motor disability, and age at onset also had little impact. Neuropsychological test performance and functional capacity deteriorated over time. Our data suggest that intellectual impairment is a major factor in reducing functional capacity in the early stages of Huntington's disease.
Dicarboxylic aciduria in an infant with spinal muscular atrophy
Authors: Kelley Richard I. , Sladky John T. 
Published: January 2005

AbstractA 1‐year‐old infant with classic Werdnig‐Hoffmann disease was found to excrete abnormally large amounts of dicarboxylic acids in both fed and fasting states, with especially notable increases in the longer‐chain (C10 and C12) 3‐hydroxydicarboxylic acids. Dicarboxylic aciduria has not previously been associated with Werdnig‐Hoffmann disease and suggests a primary or secondary defect of fatty acid metabolism in the disorder.
Reduced cerebral glucose metabolism and increased brain capillary permeability following high‐dose methotrexate chemotherapy: A positron emission tomographic study
Authors: Phillips Peter C. , Dhawan Vijay , Strother Stephen C. , Sidtis John J. , Evans Alan C. , Allen Jeffrey C. , Rottenberg David A. 
Published: January 2005

AbstractRegional glucose metabolic rate constants and blood‐to‐brain transport of rubidium were estimated using positron emission tomography in an adolescent patient with a brain tumor, before and after chemotherapy with intravenous high‐dose methotrexate. Widespread depression of cerebral glucose metabolism was apparent 24 hours after drug administration, which may reflect reduced glucose phosphorylation, and the influx rate constant for 82Rb was increased, indicating a drug‐induced alteration in blood–brain barrier function. Associated changes in neuropsychological performance, electroencephalogram, and plasma amino acid concentration were identified in the absence of evidence of systemic methotrexate toxicity, suggesting primary methotrexate neurotoxicity.