bluuebunny/crossref_metadata_2025_split huggingface dataset:
Investigation of human mitochondrial myopathies by phosphorus magnetic resonance spectroscopy
Authors: Arnold D. L. , Taylor D. J. , Radda G. K. 
Published: January 2005

AbstractAbnormal mitochondria are an increasingly recognized cause of neuromuscular disease. We have used phosphorus magnetic resonance spectroscopy to monitor noninvasively the metabolism of high‐energy phosphates and the intracellular pH of human skeletal muscle in vivo in 12 patients with mitochondrial myopathy. At rest, an abnormality could be demonstrated in 11 of 12 patients. Ten patients had evidence of a reduced muscle energy state with at least one of the following abnormalities: low phosphorylation potential, low phosphocreatine concentration, high adenosine diphosphate concentration, or high inorganic phosphate concentration. Two patients had abnormal resting muscle intracellular pH. In some patients phosphocreatine concentration decreased to low values during exercise despite limited work output. This was not accompanied by particularly severe intracellular acidosis. Evidence of impaired rephosphorylation of adenosine diphosphate to adenosine triphosphate during recovery from exercise was found in approately half the patients. Phosphorus magnetic resonance spectroscopy is useful in the noninvasive diagnosis of mitochondrial myopathies and in defining the pathophysiological basis of these disorders.
Neurotransmitter receptor alterations in Huntington's disease: Autoradiographic and homogenate studies with special reference to benzodiazepine receptor complexes
Authors: Whitehouse Peter J. , Trifiletti Rosario R. , Jones Bruce E. , Folstein Susan , Price Donald L. , Snyder Solomon H. , Kuhar Michael J. 
Published: January 2005

AbstractIn vitro receptor autoradiography was used to construct semiquantitative maps of subtypes of muscarinic cholinergic (labeled with [3H]N‐methylscopolamine), benzodiazepine ([3H]flunitrazepam), γ‐aminobutyric acid ([3H]muscimol), dopamine, and serotonin ([3H]spiperone) receptors in frontal cortex, parietal cortex, caudate, putamen, and globus pallidus in tissue sections from 5 patients with clinically well‐evaluated Huntington's disease and 5 controls matched with respect to age, sex, and postmortem delay. Homogenates were prepared from the remaining cortical and striatal tissue and used to characterize pharmacologically these same receptors, as well as histamine, adenosine, and nitren‐dipine receptors. Neuronal loss and gliosis were assessed in the contralateral formalin‐fixed caudate and putamen. All binding sites measured (except serotonin) were reduced relative to control values in striatum primarily because of changes in the number of receptors rather than in affinity. Autoradiographic studies generally revealed that these changes were greater in the caudate than the putamen, paralleling the more severe neuropathological changes present in the caudate. In addition, autoradiographic studies demonstrated an increase in γ‐aminobutyric acid‐related receptors in the globus pallidus. In the cortex, receptor alterations were limited to an increase in the number of benzodiazepine receptors in the frontal cortex which was most prominent in superficial cortical layers.
Developmental dyslexia: Four consecutive patients with cortical anomalies
Authors: Galaburda Albert M. , Sherman Gordon F. , Rosen Glenn D. , Aboitiz Francisco , Geschwind Norman 
Published: January 2005

AbstractWe report the neuroanatomical findings in 4 consecutively studied brains of men with developmental dyslexia. The patients, who ranged in age between 14 and 32 years, were diagnosed as dyslexic during life. Nonrighthandedness and several autoimmune and atopic illnesses were present in the personal and family histories. All brains showed developmental anomalies of the cerebral cortex. These consisted of neuronal ectopias and architectonic dysplasias located mainly in perisylvian regions and affecting predominantly the left hemisphere. Furthermore, all brains showed a deviation from the standard pattern of cerebral asymmetry characterized by symmetry of the planum temporale. The neuroanatomical findings in these 4 patients are discussed with reference to developmental cortical anomalies, cerebral asymmetries, reorganization of the brain after early lesions, and the association between learning disorders, left handedness, and diseases of the immune system.
Amyotrophic lateral sclerosis: Part 1. Clinical features, pathology, and ethical issues in management
Authors: Tandan Rup , Bradley Walter G. 
Published: January 2005

AbstractAmyotrophic lateral sclerosis (ALS) is a progressive degenerative disease of the motor system in adults that occurs in sporadic, familial, and Western Pacific forms. Involvement of non‐motor pathways has been increasingly recognized, both clinically and pathologically. Although the usual course is relentlessly progressive with death in half the cases within three years from onset, it can sometimes be protracted. Degeneration and loss of large motor neurons in the cerebral cortex, brainstem, and cervical and lumbar spinal cord are characteristic. Marked reduction in the number of large myelinated fibers is notable in the cervical and lumbar ventral roots. Peripheral nerves show reduced numbers of large myelinated fibers, acute axonal degeneration at all levels, and distal axonal atrophy. Motor end‐plates reveal small or absent nerve terminals. Subclinical non–motor system involvement includes neuronal loss in Clarke's nucleus and dorsal root ganglia, degeneration of non‐motor tracts in the spinal cord, loss of receptors in the dorsal horns of the spinal cord, and myelinated fiber loss with segmental demyelination in sensory and mixed nerves. The serious implications of the diagnosis of ALS make it mandatory to exclude similar potentially treatable disorders. Management should be multidisciplinary, and discussions with the patient and family members should be frank and frequent. Discussions about ventilatory support should take place early in the disease so that death from respiratory failure can be prevented, when that is desired, and conversely to obviate the discontent and anger that accompany involuntary life on a ventilator.
Bilateral and limited amygdalohippocampal lesions causing a pure amnesic syndrome
Authors: Duyckaerts C. , Derouesne C. , Signoret J. L. , Gray F. , Escourolle R. , Castaigne P. 
Published: January 2005

AbstractA pure amnesic syndrome of 21 months' duration occurred in a 36‐year‐old man following a transient confusional state. The patient died of Hodgkin's disease. At postmortem examination, bilateral and symmetrical neuronal loss, without inflammatory changes, was restricted to the hippocampus and amygdaloid bodies.
Detection of picornavirus sequences in nervous tissue of amyotrophic lateral sclerosis and control patients
Authors: Brahic M. , Smith R. A. , Gibbs C. J. , Garruto R. M. , Tourtellotte W. W. , Cash E. 
Published: January 2005

AbstractWe used in situ hybridization to look for picornavirus ribonucleic acid (RNA) sequences in frozen sections of central nervous system (CNS) tissue of amyotrophic lateral sclerosis (ALS) and control patients. Using reconstruction experiments, we concluded that 30 copies of viral RNA per cell could be detected with the assay. RNA which hybridized to DNAs complementary (cDNAs) to both poliovirus and Theiler's virus was found at several levels in the CNS of 2 patients, 1 ALS patient, and 1 control. In transverse sections of the spinal cord, these sequences predominated in cells of the anterior horns. We assessed the specificity of hybridization by several criteria: (1) no hybridization was observed with heterologous visna virus cDNA probes; (2) hybridization was abolished by pretreatment of the sections with ribonuclease; (3) chemography artifacts were ruled out; and (4) the results were reproduced in three independent experiments. We concluded that RNA molecules, possibly belonging to a picornavirus having sequences in common with poliovirus and Theiler's virus, were present in the CNS of these 2 patients. On the other hand, 14 cases of classic ALS, 2 cases of Guamanian parkinsonian dementia, and 5 controls had negative results. However, the presence of picornavirus sequences in our series could be underestimated because in many cases autolysis times were 10 hours or longer.
Leukotrienes increase blood‐brain barrier permeability following intraparenchymal injections in rats
Authors: Black Keith L. , Hoff Julian T. 
Published: January 2005

AbstractTo examine whether leukotrienes could increase blood–brain barrier permeability, rats were anesthetized and injected intravenously with Evans blue. Ten microliters of vehicle, of leukotrienes B4, C4, or E4, or of arachidonic acid was injected over 1 hour directly into the brain parenchyma. The percentage of the total surface area of Evans blue extravasation in a coronal section of brain centered on the injection site was then determined as an estimate of blood–brain barrier permeability. Leukotrienes B4, C4, and E4, and arachidonic acid all increased blood–brain barrier permeability, but this effect was lost when the total dose was reduced to 20 ng. Increased blood–brain barrier permeability induced by arachidonic acid could be prevented by pretreatment with the lipoxygenase inhibitor BW755C, but not with indomethacin. Leukotrienes may play a role in the development of increased blood–brain barrier permeability after cerebral injury.
Similarity of brain CT appearance in spongy degeneration to that of subacute necrotizing encephalomyelopathy
Authors: Lo Warren D. , Sander James E. , Koenigsberger M. Richard 
Published: January 2005

AbstractReports of brain computed tomography (CT) findings in spongy degeneration describe radiolucent changes of the cerebral white matter, but have not described changes in the posterior fossa. We describe an infant with spongy degeneration in whom CT scans detected brainstem, cerebellar, and cerebral white matter radiolucencies before the diagnosis was established. The posterior fossa CT findings resembled the periventricular changes described in subacute necrotizing encephalomyelopathy (SNE). As the patient's initial clinical findings were consistent with SNE, the similarity of the posterior fossa radiolucencies was misleading. Without basal ganglia or thalamic involvement, or without variability in their appearance over time, posterior fossa periventricular radiolucencies are not diagnostic of a specific degenerative disorder.
The auditory pathology of brain death as revealed by auditory evoked potentials
Authors: Kaga Kimitaka , Takamori Akiyu , Mizutani Toshio , Nagai Taiji , Marsh Roger R. 
Published: January 2005

AbstractA case of brain death is reported in which the auditory brainstem response, middle latency component, and slow vertex response were recorded before and after the cessation of cortical activity, and in which histological examination of the temporal bone and central auditory pathways was performed post mortem. Brain death of at least 48 hours' duration was demonstrated by neurological examination, flat electroencephalographic recording, and persistent absence of auditory evoked responses. The postmortem examination was performed 3 hours after death. The pathological studies of the whole length of the auditory pathway revealed total autolysis of the organ of Corti, marked cell loss in the dorsal cochlear nucleus, and moderate cell loss in other nuclei of the central auditory pathway. It should be considered that total autolysis of the organ of Corti and severe cell loss of the cochlear nucleus may occur if the auditory brainstem response becomes absent in comatose patients.
Amyotrophic leteral sclerosis: Part 2. Etiopathogenesis
Authors: Tandan Rup , Bradley Walter G. 
Published: January 2005

AbstractThe pathogenesis of the motor neuronal degeneration in amyotrophic lateral sclerosis (ALS) is unclear, though several possible etiological factors are currently being investigated. A unifying hypothesis will have to explain the diverse geographical occurrence, clinical features, and selective vulnerability and relative resistance of different neuronal populations in the disease. It is possible that different biochemical defects underlie this diversity, or alternatively that the many factors incriminated in the etiology may act upon an underlying genetic–biochemical abnormality to trigger premature neuronal death. Viruses, metals, endogenous toxins, immune dysfunction, endocrine abnormalities, impaired DNA repair, altered axonal transport, and trauma have all been etiologically linked with ALS, but convincing research evidence of a causative role for any of these factors is yet to be demonstrated.
Phenotypic and functional analysis of T cells cloned directly from the blood and cerebrospinal fluid of patients with multiple sclerosis
Authors: Hafler David A. , Buchsbaum Marion , Johnson David , Weiner Howard L 
Published: January 2005

AbstractA single‐cell cloning technique was used to analyze both phenotype and function of individual T cells in patients with multiple sclerosis (MS). Blood and cerebrospinal fluid (CSF) lymphocytes were plated at 1 cell per well, stimulated with phytohemagglutinin followed by interleukin 2, and expanded to 3 × 106 cells per “clone.” More than 90% of the T8 clones generated from patients with MS and controls in both blood and CSF were cytotoxic precursors. There was also a slight decrease in cytotoxic T4 clones in the blood of patients with MS. The cytotoxic precursor frequencies of T cells in the CSF generally reflected those in the blood. In separate experiments, antigen reactivity was examined in lines established from blood or CSF. No reactivity to myelin basic protein or white matter was found in patients with MS or controls. Myelin basic protein–reactive clones could, however, be generated after first stimulating lymphocytes with antigen before cloning. These results suggest that changes in the T8 population from the blood of patients with MS involve cytotoxic as well as suppressor cells. Sequestration of myelin basic protein–or white matter–reactive T cells was not seen in the CSF of patients with MS, unlike reports of viral meningoencephalitis, in which large numbers of antigen‐specific cells were found in the CSF. Direct single‐cell clonal analysis of the CSF should provide a more sophisticated approach to the study of T cell abnormalities in patients with MS.
α‐1 antitrypsin phenotypes in demyelinating disease: An association between demyelinating disease and the allele PiM3
Authors: McCombe P. A. , Clark P. , Frith J. A. , Hammond S. R. , Stewart G. J. , Pollard J. D. , McLeod J. G. 
Published: January 2005

Abstractα‐1 Antitrypsin, the major circulating protease inhibitor, has more than thirty alleles that can be identified by electrophoresis. In addition to its role as a protease inhibitor, α‐1 antitrypsin may regulate the immune response. As there is evidence that both the inflammatory polyneuropathies and multiple sclerosis have an immune basis, and that genetic factors influence susceptibility, we have determined the α‐1 antitrypsin phenotypes (protease inhibitor types) of 63 patients with Guillain‐Barré syndrome, 52 patients with chronic inflammatory demyelinating polyneuropathy, and 178 patients with multiple sclerosis. In all 3 groups there was a significant increase in the proportion of patients with the protease inhibitor type M3 allele.
Stress‐induced neurological impairments in an animal model of parkinsonism
Authors: Snyder Abigail M. , Stricker Edward M. , Zigmond Michael J. 
Published: January 2005

AbstractAdult rats were given the neurotoxin 6‐hydroxydopamine (6‐HDA) by means of cerebrospinal fluid to produce large dopamine‐depleting brain lesions. Although the animals behaved normally in their home cages, they became akinetic after such treatments as glucoprivation, tail shock, and exposure to severe cold. The neurological impairments were related both to the extent of dopamine depletion and to the intensity of the stress. Drugs known to enhance dopaminergic function were found to reverse the stress‐induced neurological deficits, while dopaminergic antagonists potentiated the debilitating effects of stress. After focal lesions were produced by injecting 6‐hydroxydopamine directly into specific brain regions, stress‐induced akinesia was found to correlate best with dopamine depletion in the corpus striatum, especially the lateral portion of that structure. These and other findings suggest that the acute emergence of parkinsonian symptoms during stress may reflect extensive damage to the dopaminergic nigrostriatal pathway that had been concealed in a preclinical phase, owing to compensatory neurochemical changes in the dopaminergic neurons that yet remain intact.
Aspergillosis of the central nervous system: Clinicopathological analysis of 17 patients
Authors: Walsh Thomas J. , Hier Daniel B. , Caplan Louis R. 
Published: January 2005

AbstractThe clinical, laboratory, and pathological features of aspergillosis of the central nervous system (CNS) were studied in a series of 17 autopsied patients. Two groups were defined. Group A consisted of 8 patients with diseases commonly associated with CNS aspergillosis: leukemia, lymphoma, aplastic anemia, and renal transplantation. Group B contained 9 patients with various illnesses not generally known to be associated with CNS aspergillosis. CNS aspergillosis was diagnosed and treated before death in only 1 patient. Patients in Group A received cytotoxic drugs, often had granulocytopenia, less commonly had focal neurological deficits, and seldom had seizures. Group B patients were not granulocytopenic, received no cytotoxic agents, underwent nontransplant surgery, and more frequently had focal neurological deficits. Eleven of the 17 patients (65%) had focal deficits, most of them hemiparesis. Meningeal signs were rare, but the cerebrospinal fluid was usually abnormal. The principal neuropathological process was Aspergillus invasion of blood vessels causing hemorrhagic infarction. Focal clinical deficits correlated neuroanatomically with Aspergillus lesions. In 2 patients, such lesions were detected by 99mTc‐DTPA or cerebral angiography before computed tomographic scanning. The lungs were the usual portal of entry, but isolated CNS lesions occurred in 2 patients. CNS aspergillosis should be considered as a cause of new onset of focal neurological deficits in patients with illnesses that are more diverse than has generally been appreciated.
The inferior longitudinal fasciculus: A reexamination in humans and monkeys
Authors: Tusa Ronald J. , Ungerleider Leslie G. 
Published: January 2005

AbstractThe inferior longitudinal fasciculus is commonly considered to be a long association fiber bundle interconnecting the occipital and temporal lobes. Based on blunt dissections of human and monkey brains, we have found that the only long fiber bundle common to both the occipital and temporal lobes is the geniculostriate pathway (i.e., optic radiations), located within the external sagittal stratum. In addition, our autoradiographic experiments indicate that the pathway from the occipital to the temporal cortex in monkeys consists of a series of U fibers that course beneath the cortical mantle to connect adjacent regions in striate, prestriate, and inferior temporal cortex. We suggest that the occipital and temporal lobes in human beings are similarly connected by a series of U fibers and that the term inferior longitudinal fasciculus be replaced with the term occipitotemporal projection system. Different clinical syndromes attributed to lesions of the inferior longitudinal fasciculus, including visual agnosia, prosopagnosia, and impaired visual recent memory, are probably due to interruption of fibers at different points along this projection system.
Biotinidase deficiency: Initial clinical features and rapid diagnosis
Authors: Wolf Barry , Heard Gregory S. , Weissbecker Karen A. , McVoy Julie R. Secor , Grier Robert E. , Leshner Robert T. 
Published: January 2005

AbstractBiotinidase deficiency is the primary defect in most individuals with late‐onset multiple carboxylase deficiency. We have reviewed the presenting clinical features of 31 children with the disorder. Seizures, either alone or with other neurological or cutaneous findings, are the most frequent initial symptom observed. Other neurological symptoms, such as hypotonia, ataxia, hearing loss, optic atrophy, and developmental delay, are seen, in addition to skin rash and alopecia. The disorder is also characterized by ketolactic acidosis and organic aciduria. Biotinidase activity may be diagnosed using a simple, rapid, semiquantitative colorimetric procedure. Samples of whole blood spotted on the same filter paper used by most states to screen for phenylketonuria and other inborn errors of metabolism may be sent to an appropriate reference laboratory. None of the common anticonvulsants or sedatives used to treat newborns and children interfere with the test. Because biotinidase deficiency can be treated readily with biotin, this disorder should be considered in children with infantile seizures, especially in the presence of other characteristic neurological or cutaneous features.
Positron emission tomographic measurement of blood‐to‐brain and blood‐to‐tumor transport of 82Rb: The effect of dexamethasone and whole‐brain radiation therapy
Authors: Jarden Jens O. , Dhawan Vijay , Poltorak Alexander , Posner Jerome B. , Rottenberg David A. 
Published: January 2005

AbstractUnidirectional blood‐to‐brain and blood‐to‐tumor transport rate constants for rubidium 82 were determined using dynamic positron emission tomography in patients with primary or metastatic brain tumors. Regional influx rate constants (K1) and plasma water volume (Vp) were estimated from the time course of blood and brain radioactivity following a bolus injection of tracer. Eight patients were studied before and 24 to 72 hours after treatment using pharmacological doses of dexamethasone, and 6 additional patients with metastatic brain tumors were studied before and within 60 to 90 minutes after 200‐ to 600‐rad whole‐brain radiation therapy. Steroid treatment was associated with a 9 to 48% decrease in tumor K1 and a 21% mean decrease in tumor Vp. No consistent changes in K1 or Vp were observed in control brain regions. Tumor K1 and Vp did not increase in patients undergoing whole‐brain radiation therapy, all of whom were taking dexamethasone at the time of study. These data suggest that corticosteroids decrease the permeability of tumor capillaries to small hydrophilic molecules (including those of some chemotherapeutic agents) and that steroid pretreatment prevents acute, and potentially dangerous, increases in tumor capillary permeability following cranial irradiation.
Transient global amnesia: A case‐control study
Authors: Kushner Michael J. , Hauser W. Allenn 
Published: January 2005

AbstractThe clinical findings and laboratory results from 18 patients with clear‐cut transient global amnesia (TGA) were compared with the results from 90 nonischemic neurological control patients using case‐control analysis. A prior episode of cerebral ischemia, generally in the posterior circulation, was the most significant risk factor for TGA. Other risk factors for cerebrovascular disease were more prominent in the TGA group, but this association became less significant when cerebral ischemia was controlled for. Migraine, epilepsy, and psychiatric disorders were not significantly associated with TGA. In 5 of 13 patients, computed tomography showed focal thalamic and temporal lobe abnormalities. The recurrence rate was 7.0% for both TGA and subsequent cerebral ischemia. We conclude that TGA is closely linked to cerebrovascular disease. Further, prior damage to anatomical structures critical to memory may be necessary for the expression of this syndrome.