bluuebunny/crossref_metadata_2025_split huggingface dataset:
Monoaminergic and cholinergic synaptic markers in the nucleus basalis of meynert (nbM): Normal age‐related changes and the effect of heart disease and Alzheimer's disease
Authors: Sparks D. Larry , Hunsaker John C. , Slevin John T. , DeKosky Steven T. , Kryscio Richard J. , Markesbery William R. 
Published: January 2005

AbstractNeurotransmitter markers for acetylcholine, serotonin (5‐HT), and dopamine (DA) were measured in autopsied human nucleus basalis of Meynert (nbM) from nondemented individuals without heart disease (non‐HD) (age range, 4–84 years; n = 77), nondemented individuals with heart disease (HD) (age range, 57–92 years; n = 23), and individuals with Alzheimer's disease (AD) (age range, 59–92 years; n = 22). No significant differences in any chemical marker were found between age‐matched HD and non‐HD individuals. The activities of choline acetyltransferase (ChAT) and acetylcholinesterase (AChE), and {3H}spiperone binding were regionally distributed within the nbM in control (non‐HD) subjects less than 54 years of age. The activity of AChE, 5‐{3H}HT binding, and the content of homovanillic acid (HVA), 5‐hydroxyindoleacetic acid (5‐HIAA), and 5‐HT were regionally distributed in the nbM in non‐HD, HD, and AD subjects more than 54 years of age. The binding of {3H}spiperone was regionally distributed in the nbM in HD and AD subjects more than 54 years of age, only. Activity of ChAT and AChE, content of 5‐HT, 5‐HIAA, and DA, binding of 5‐{3H}HT, and the turnover number for DA (ratio of HVA/DA) all decreased with increasing age in the non‐HD control population. The content of HVA, binding of {3H}spiperone, and the turnover number for 5‐HT (ratio of 5‐HIAA/5‐HT) did not change with increasing age. Significant reductions in ChAT and AChE activities were found in AD nbM compared with postmortem interval‐ and age‐matched HD and non‐HD individuals. The reduction of 5‐HT and 5‐HIAA content and {3H}spiperone binding in individuals with AD of all ages suggests a loss of functional serotonergic innervation of the nbM. Dopaminergic synaptic markers were less affected in AD nbM, although turnover numbers for both DA and 5‐HT were increased in AD. Receptor upregulation in response to presynaptic deficits did not occur for DA or 5‐HT.
Startle disease, or hyperekplexia: Response to clonazepam and assignment of the gene (STHE) to chromosome 5q by linkage analysis
Authors: Ryan Stephen G. , Sherman Stephanie L. , Terry Joseph C. , Sparkes Robert S. , Torres M. Cristina , Mackey Ray W. 
Published: January 2005

AbstractFamilial startle disease (also known as hyperekplexia and congenital “stiff‐man” syndrome) is an autosomal dominant disorder characterized by an exaggerated startle reaction to sudden, unexpected auditory or tactile stimuli; affected neonates also have severe and occasionally fatal hypertonia. We recently encountered a large, five‐generation family with startle disease, and treated 16 patients (including 1 neonate) with clonazepam; all experienced dramatic and sustained improvement. We performed systematic linkage analysis in this family, and found tight linkage between the disease locus and a polymorphic genetic marker locus (colony‐stimulating factor receptor, or CSFIR) that has been physically mapped to chromosome 5q33‐q35. The maximum odds ratio favoring linkage over nonlinkage is greater than 10,000,000:1 (lod score, 7.10) at 3% recombination. Several genes encoding neurotransmitter receptor components have been physically mapped to the subtelomeric region of chromosome 5q, and are thus candidates for the startle disease gene. The availability of additional large pedigrees with startle disease shold facilitate identification and characterization of the gene for this disorder.
Neonatal idiopathic cerebral venous thrombosis: An unrecognized cause of transient seizures or lethargy
Authors: Rivkin Michael J. , Anderson Mary L. , Kaye Edward M. 
Published: January 2005

AbstractSeven neonates who presented with either lethargy (four infants) or seizures (three infants) were found by magnetic resonance (MR) phase imaging to have idiopathic cerebral venous thrombosis (CVT). Examination showed only hypotonia or hyperreflexia. The presence of CVT was suggested by unenhanced cranial computed tomographic (CT) scans. Conventional MR T1‐ and T2‐weighted images often indicated more extensive thromboses than were suggested by cranial CT. In all infants, MR phase imaging confirmed thromboses by establishing absence of blood flow in cerebral veins or sinuses. No infant received anticoagulation. Lethargy slowly resolved and seizures did not recur. Normal development has been observed thus far in brief follow‐up. The occurrence of seven infants with idiopathic neonatal CVT within a 3‐month period indicates that CVT may be a cause of neonatal seizures or lethargy of unclear cause. MR phase imaging provides a powerful, noninvasive means of confirming the diagnosis. Treatment with anticoagulants does not appear necessary.
The effect of 4‐aminopyridine on clinical signs in multiple sclerosis: A randomized, placebo‐controlled, double‐blind, cross‐over study
Authors: van Diemen Harriët A. M. , Polman Chris H. , van Dongen Theo M. M. M. , van Loenen Arie C. , Nauta Jos J. P. , Taphoorn Martin J. B. , van Walbeek Harm K. , Koetsier Johan C. 
Published: January 2005

AbstractTo find out whether treatment with 4‐aminopyridine is beneficial in multiple sclerosis (MS), 70 patients with definite MS entered into a randomized, double‐blind, placebo‐controlled, cross‐over trial in which they were treated with 4‐aminopyridine and placebo for 12 weeks each (maximum dose, 0.5 mg/kg of body weight). The estimated effect of the treatment as measured with the Kurtzke expanded disability status scale, which was the main evaluation parameter, was 0.28 point (p = 0.001). A significant decrease in the scale score (1.0 point or more) was encountered in 10 patients (16.4%) during oral treatment with 4‐aminopyridine whereas it was not seen during placebo treatment (p < 0.05). A significant subjective improvement (defined as an improvement that significantly affected the activities of normal daily life) was indicated by 18 patients (29.5%) during 4‐aminopyridine treatment and by 1 patient (1.6%) during placebo treatment (p < 0.05). Significant improvements related to 4‐aminopyridine occurred in a number of neurophysiological parameters. No serious side effects were encountered. However, subjective side effects such as paresthesias, dizziness, and light‐headedness were frequently reported during 4‐aminopyridine treatment. Analysis of subgroups revealed that there was no difference in efficacy between those patients randomized to receive 4‐aminopyridine and then placebo and those randomized to receive placebo and then 4‐aminopyridine or between patients with and those without subjective side effects. Especially patients with temperature‐sensitive symptoms and patients characterized by having a longer duration of the disease and being in a progressive phase of the disease were likely to show clear clinical benefit.
Paramedian thalamopeduncular infarction: Clinical syndromes and magnetic resonance imaging
Authors: Tatemichi T. K. , Steinke W. , Duncan C. , Bello J. A. , Odel J. G. , Behrens M. M. , Hilal S. K. , Mohr J. P. 
Published: January 2005

AbstractWe prospectively examined 11 patients with magnetic resonance imaging–documented infarction in the paramedian thalamopeduncular region, which is supplied by the superior mesencephalic and posterior thalamosubthalamic arteries. Variations in the size and rostral–caudal extent of infarction correlated with the following three clinical patterns: (1) With unilateral paramedian mesencephalic infarction, an ipsilateral third nerve paresis was accompanied by mild contralateral hemiparesis or hemiataxia. Contralateral ptosis and impaired upgaze were observed in two patients; one of them showed additional damage to the posterior commissure. (2) With bilateral infarction in the thalamopeduncular junction, involving the mesencephalic reticular formation, supranuclear vertical gaze defects were accompanied by impaired consciousness or memory, and mild aphasia in some patients. Persistent amnesia was observed only when the dominant anterior nucleus or mamillothalamic tract was damaged. (3) With larger thalamopeduncular infarcts, partial or complete third nerve paresis was combined with supranuclear gaze disturbance and delayed contralateral tremor. An unusual gaze disorder, a variant of the vertical “one‐and‐a‐half syndrome,” occurred with a small strategically placed lesion at the thalamopeduncular junction, best explained by selective damage to supranuclear pathways or partial nuclear involvement. The primary cause of these infarctions was embolism to the basilar apex or local atheroma at the origin of the posterior cerebral artery.
Serological α1‐Antichymotrypsin in Down's syndrome and Alzheimer's disease
Authors: Brugge Karen , Katzman Robert , Hill L. Robert , Hansen Lawrence A. , Saitoh Tsunao 
Published: January 2005

Abstractα1‐Antichymotrypsin (ACT) is a serine protease inhibitor that is markedly elevated in the serum and cerebrospinal fluid of patients with Alzheimer's disease (AD). Patients with Down's syndrome are known to develop neuropathological changes of AD by age 40 years and many become demented. Therefore, in the present study, we obtained serum ACT levels from patients with Down's syndrome and AD, diagnosed by autopsy or clinically, and healthy control subjects. Newman–Keuls' multiple range test revealed a significantly greater (p < 0.01) mean ACT level in the Autopsy AD (906.4 ± 94.64 mg/L) and Clinical AD (745.00 ± 59.95 mg/L) groups in contrast to the Old Control group (531.00 ± 23.05 mg/L). The mean ACT level of the Down's Syndrome group (513.33 ± 14.73 mg/L) was not significantly different from that of the Young Control subjects. Furthermore, we did not observe a positive correlation of ACT levels with age in the Down's Syndrome group, in spite of the age‐dependent premature increase in neuropathological changes of AD that are known to occur in patients with Down's syndrome. A positive correlation between serum ACT levels and the density of plaques or tangles, neuropathological hallmarks of AD, in brains of patients with AD also did not exist. Thus, our results suggest that ACT levels may not parallel the development of the classical neuropathological hallmarks of AD.
Interferon‐γ potentiates antibody‐mediated demyelination in vivo
Authors: Vass Karl , Heininger Kurt , Schäfer Bärbel , Linington Christopher , Lassmann Hans 
Published: January 2005

AbstractThe pathogenetic events leading to demyelination in experimental allergic encephalomyelitis and in human multiple sclerosis are still unclear. The involvement of antimyelin antibodies and activated macrophages as effector cells has been postulated. We investigated the synergistic action of the monoclonal antibody 8‐18C5 against myelin/oligodendrocyte glycoprotein and recombinant interferon‐γ on demyelination after simultaneous injection into the subarachnoid space of Sprague‐Dawley rats. After combined injection of anti–myelin/oligodendrocyte glycoprotein antibody and interferon‐γ, electrophysiological and morphological evidence for demyelination was found. Cervical somatosensory evoked potentials and cervical short‐latency somatosensory evoked potentials were significantly delayed, and the demyelinated area in the spinal cord was significantly enlarged when compared to control rats injected with either compound alone. Injection of either an irrelevant antibody and interferon‐γ or of peritoneal macrophages without anti‐myelin/oligodendrocyte glycoprotein antibody and interferon‐γ did not induce demyelination. Our data suggest that the deleterious effect of interferon‐γ on multiple sclerosis may be not only due to its effect on antigen presentation but also due to potentiation of demyelination.
Rapidly progressive autosomal dominant parkinsonism and dementia with pallido‐ponto‐nigral degeneration
Authors: Wszolek Z. K. , Pfeiffer R. F. , Bhatt M. H. , Schelper R. L. , Cordes M. , Snow B. J. , Rodnitzky R. L. , Wolters E. Ch , Arwert F. , Calne D. B. 
Published: January 2005

AbstractWe describe a family with nearly 300 members over 8 generations with 32 affected individuals who have an autosomal dominant neurodegenerative disease characterized by progressive parkinsonism with dystonia unrelated to medications, dementia, ocular motility abnormalities, pyramidal tract dysfunction, frontal lobe release signs, perseverative vocalizations, and urinary incontinence. The course is exceptionally aggressive; symptom onset and death consistently occur in the fifth decade. Positron emission tomographic studies with [18F]6‐fluoro‐L‐dopa(6FD) were performed in 4 patients and 7 individuals at risk for development of the disease. All affected subjects had markedly reduced striatal uptake of 6FD(p < 0.001). All individuals at risk had normal striatal uptake, but high 6FD uptake rate constants were noted in 3 of the 7 studied. Autopsy findings revealed severe neuronal loss with gliosis in substantia nigra, pontine tegmentum, and globus pallidus, with less involvement of the caudate and the putamen. There were no plaques, tangles, Lewy bodies, or amyloid bodies. This kindred appears to represent a neurodegenerative disease not heretofore described. We propose the following name for this new genetic disease: autosomal dominant parkisonism and dementia with pallido‐ponto‐nigral degeneration.
Bacterial toxin superantigens activate human T lymphocytes reactive with myelin autoantigens
Authors: Burns James , Littlefield Kim , Gill Januaryice , Trotter John L. 
Published: January 2005

AbstractSome bacteria that are common human pathogens produce protein toxins that are potent activators of human T lymphocytes expressing certain types of T‐cell receptors. In this study we examined the ability of staphylococcal toxins to stimulate human T lymphocytes that also recognized the myelin autoantigens myelin basic protein and proteolipid protein. T‐cell populations responding to myelin basic protein or proteolipid protein were isolated from 4 subjects including 1 individual with multiple sclerosis. All myelin antigen‐specific T cells responded in proliferation studies to at least one of the nine superantigenic toxins used in this study. The superantigenic toxins were up to 7 × 105‐fold more potent in proliferation assays than the myelin antigens to which the T cells were initially sensitized. In addition, cytotoxic, myelin basic protein‐reactive T lymphocytes lysed antigen‐presenting cells incubated with superantigenic toxins. These findings demonstrate a mechanism by which some bacterial infections might produce activation of myelin basic protein‐ and proteolipid protein‐reactive T lymphocytes and perhaps contribute to demyelinating disease in humans.
Abnormalities of somatosensory evoked potentials in the quinolinic acid model of Huntington's disease: Evidence that basal ganglia modulate sensory cortical input
Authors: Schwarz Michael , Block Frank , Töpper Rudolf , Sontag Karl‐Heinz , Noth Johannes 
Published: January 2005

AbstractIntrastriatal injection of quinolinic acid (QA) in rats provides an animal model that mimics some of the neuropathological and neurochemical alterations observed in the striatum of patients with Huntington's disease (HD). One of the very early neurophysiological signs in HD is a diminution of amplitude of early somatosensory evoked potentials (SEPs) recorded over the parietal cortex. The present study investigated whether the QA model exhibits similar neurophysiological abnormalities. Two weeks after unilateral intrastriatal injection of QA (240 nmol) or of the solvent, early SEPs were recorded with chronically implanted electrodes from the somatosensory cortex or from the ventrobasal nucleus of the thalamus of lightly pentobarbital‐anesthetized rats, in response to single‐shock electrical stimulation of the contralateral forepaw. Whereas intrastriatal injection of solvent did not influence SEPs, the striatal QA lesion significantly reduced the amplitude of early cortical SEPs by about 40% without affecting the latency. SEPs recorded from the ventrobasal nucleus were unchanged after QA lesion. Histological examination and glial fibrillary acid protein staining after intrastriatal injection of QA revealed no evidence for damage in the somatosensory system. It is concluded that (1) the QA animal model of HD mimics some of the SEP abnormalities of patients, and (2) a striatal lesion modulates somatosensory transmission to the cortex in rats.
Absence of measles, mumps, and rubella viral genomic sequences from multiple sclerosis brain tissue by polymerase chain reaction
Authors: Godec Mark S. , Asher David M. , Murray Ronald S. , Shin Moon L. , Greenham Leighton W. , Gibbs Clarence J. , Gajdusek D. Carleton 
Published: January 2005

AbstractWe tested for measles, mumps, and rubella viruses in multiple sclerosis by polymerase chain reaction (PCR). Using RNA extracted from 19 multiple sclerosis and 8 control brain specimens, nested PCR was performed after reverse transcription (RT) of the RNA to cDNA using primer pairs directed against two regions in the genomes of measles and mumps viruses and one region in the rubella virus genome. Despite enhanced sensitivity of nested RT PCR, measles, mumps, and rubella viral genomic sequences were not found in any brain specimen.
Werdnig‐Hoffmann disease and chronic distal spinal muscular atrophy with apparent autosomal dominant inheritance
Authors: Boylan Kevin B. , Cornblath David R. 
Published: January 2005

AbstractWe report on a family in which both Werdnig‐Hoff‐mann disease (severe infantile‐onset spinal muscular atrophy) and chronic distal spinal muscular atrophy ocurred, with apparent autosomal dominant inheritance. The female proband clinically had Werdnig‐Hoffmann disease and died at 10 months. In their second decade of life, the proband's father and his 2 brothers developed bilateral progressive atrophy and weakness of the hands and mild weakness in the distal parts of the legs. Their mother had no symptoms or signs of motor neuron disease but electromyography revealed distal denervation of the limbs. While the family studies suggest autosomal dominant inheritance, it is possible that the proband's condition was influenced by a maternally derived allelic or modifying trait.
Hemifacial spasm: Evaluation by magnetic resonance imaging and magnetic resonance tomographic angiography
Authors: Adler Charles H. , Zimmerman Robert A. , Savino Peter J. , Bernardi Bruno , Bosley Thomas M. , Sergott Robert C. 
Published: January 2005

AbstractWe evaluated 37 patients with hemifacial spasm and 16 age‐matched control patients with other neurological disorders using magnetic resonance (MR) imaging, MR angiography, and MR tomographic angiography. MR tomographic angiography is a new technique using computer reconstruction of MR angiographic images to create coronal angiotomes that display tissue and arterial structures on the same image. Twenty‐four of 37 (64.9%) patients with hemifacial spasm had ipsilateral vascular compression of cranial nerve VII or the pons noted by this technique, whereas only 1 of 16 (6.3%) control patients had compression. MR imaging and MR angiography were less sensitive and less specific in evaluating for vascular compression. This study supports vascular compression of cranial nerve VII or the pons as a cause of hemifacial spasm, and demonstrates MR tomographic angiography's value as an excellent, noninvasive technique to demonstrate the compression.
Magnetic resonance: A noninvasive approach to metabolism, circulation, and morphology in human brain death
Authors: Aichner F. , Felber S. , Birbamer G. , Luz G. , Judmaier W. , Schmutzhard E. 
Published: January 2005

AbstractPhosphorus (31P) magnetic resonance spectroscopy and magnetic resonance imaging were used to study the intracellular metabolism, circulation, and morphology in the brains of 3 patients with clinical brain death syndrome due to traumatic brain damage, subarachnoid hemorrhage, and acute occlusive hydrocephalus caused by a colloid cyst. Magnetic resonance spectra were characterized by a complete absence of ATP and were dominated by an intense inorganic phosphate signal. Magnetic resonance imaging revealed a uniform pattern of diffuse brain swelling and tentorial and foraminal herniation. Intracranial blood flow was absent on the magnetic resonance angiography projections. These preliminary findings suggest an important impact of magnetic resonance in the determination of human brain death.
Paternal uniparental disomy of chromosome 15 in a child with angelman syndrome
Authors: Nicholls Robert D. , Pai G. Shashidhar , Gottlieb Wayne , Cantú Eduardo S. 
Published: January 2005

AbstractAngelman and Prader‐Willi syndromes are clinically distinct neurobehavioral disorders most commonly resulting from large deletions of chromosome 15q11‐q13. The deletions arise differentially during maternal or paternal gametogenesis, respectively. A subgroup of patients with either syndrome have no apparent deletion, and because many such patients with Prader‐Willi syndrome display inheritance of two copies of chromosome 15 from the mother only (uniparental disomy; UPD), we suggested that paternal UPD might be found in patients with Angelman syndrome. We report here clinical, cytogenetic, and molecular evidence on the 1 patient with paternal UPD for chromosome 15 who was found in our study population. This represents, to our knowledge, the first patient with paternal UPD to be studied with DNA probes from the chromosome 15q11‐q13 critical region. In contrast to our findings for patients with Prader‐Willi syndrome, in which maternal UPD was common, our data demonstrate that paternal UPD is infrequent in patients with Angelman syndrome.
Three‐ and four‐year cognitive outcome in children with noncortical brain tumors treated with whole‐brain radiotherapy
Authors: Radcliffe Jerilynn , Packer Roger J. , Atkins Thomas E. , Bunin Greta R. , Schut Luis , Goldwein Joel W. , Sutton Leslie N. 
Published: January 2005

AbstractCognitive function and school achievement were studied prospectively over 3 to 4 years in 19 children treated for brain tumors with whole‐brain radiotherapy; 14 of 19 also received adjuvant chemotherapy. For the group as a whole, mean IQ fell from a baseline of 104 to 92 at follow‐up(p < 0.01). Age was inversely correlated with change in IQ over time (r = 0.71;p < 0.001). Children younger than 7 years at diagnosis had a mean IQ loss 27 points, while children over 7 years at diagnosis showed no significant decrease in IQ. Decline in IQ occured between baseline and year 2 of follow‐up; none could be documented between years 2 and 4. All children younger than 7 years at diagnosis were receiveing special education at follow‐up; 50% of the children over 7 years at diagnosis were receiving supplemental educational services.