bluuebunny/crossref_metadata_2025_split huggingface dataset:
Human spongiform encephalopathy: The national institutes of health series of 300 cases of experimentally transmitted disease
Authors: Brown Paul , Gibbs C. J. , Rodgers‐Johnson Pamela , Asher David M. , Sulima Michael P. , Bacote Alfred , Goldfarb Lev G. , Gajdusek D. Carleton 
Published: January 2005

AbstractWe present a synthesis of clinical, neuropathological, and biological details of the National Institutes of Health series of 300 experimentally transmitted cases of spongiform encephalopathy from among more than 1,000 cases of various neurological disorders inoculated into nonhuman primates during the past 30 years. The series comprises 278 subjects with Creutzfeldt‐Jakob disease, of whom 234 had sporadic, 36 familial, and 8 iatrogenic disease; 18 patients with kuru; and 4 patients with Gerstmann‐Sträussler‐Scheinker syndrome. Sporadic Creutzfeldt‐Jakob disease, numerically by far the most important representative, showed an average age at onset of 60 years, with the freqauent early appearance of cerebellar and visual/oculomotor signs, and a broad spectrum of clinical features during the subsequent course of illness, which was usually fatal in less than 6 months. Characteristic spongiform neuropathology was present in all but 2 subjects. Microscopically visible kuru‐type amyloid plaques were found in 5% of patients with Creutzfeldt‐Jakob disease, 75% of those with kuru, and 100% of those with Gerstmann‐Sträussler‐Scheinker syndrome; brain biopsy was diagnostic in 95% of cases later confirmed at autopsy, and proteinase‐resistant amyloid protein was identified in Western blots of brain extracts from 88% of tested subjects. Experimental transmission rates were highest for iatrogenic Creutzfeldt‐Jakob disease (100%), kuru (95%), and sporadic Creutzfeldt‐Jakob disease (90%), and considerably lower for most familial forms of disease (68%). Incubation periods as well as the durations and character of illness showed great variability, even in animals receiving the same inoculum, mirroring the spectrum of clinical profiles seen in human disease. Infectivity reached average levels of nearly 105 median lethal doses/gm of brain tissue, but was only irregularly present (and at much lower levels) in tissues outside the brain, and except for cerebrospinal fluid, was never detected in bodily secretions or excretions.
Transgenic mouse brain histopathology resembles early Alzheimer's disease
Authors: Higgins L. S. , Holtzman D. M. , Rabin J. , Mobley W. C. , Cordell B. 
Published: January 2005

AbstractTransgenic mice expressing the 751–amino acid form of the human amyloid precursor protein develop extracellular β‐amyloid protein (Aβ)–immunoreactive deposits that increase in frequency with age. Here we show that the appearance and histological profile of deposits in the transgenic mice closely resemble those of preamyloid deposits in the brains of young adults with Down's syndrome, who presumably have the pathology of early‐stage Alzheimer's disease. Specific monoclonal antibodies reveal that material in the deposits has the free carboxyl terminus of Aβ 1‐42, and that the deposits contain material which, by immunohistochemical analysis, apparently originates from the human β‐amyloid precursor protein (βPP) transgene. In rare cases, the transgenic mouse brains contain several different histopathological characteristics of Alzheimer lesions. These features include dense Aβ immunoreactivity which co‐localizes with gliosis and with Alz50‐immunoreactive structures resembling swollen boutons of dystrophic neurites. These observations demonstrate that the murine brain is capable of reproducing several typical features of Alzheimer histopathology.
Methylmercury poisoning: Long‐term clinical, radiological, toxicological, and pathological studies of an affected family
Authors: Davis Larry E. , Kornfeld Mario , Mooney Herbert S. , Fiedler Kurt J. , Haaland Kathleen Y. , Orrison William W. , Cernichiari Elsa , Clarkson Thomas W. 
Published: January 2005

AbstractFor 3 months in 1969 a family in the United States that included a pregnant mother consumed pork containing methylmercury. Children, aged 20, 13, and 8 years and a neonate, developed severe neurological signs. Twenty‐two years later, the 2 oldest had cortical blindness or constricted visual fields, diminished hand proprioception, choreoathetosis, and atentional deficits. Magnetic resonance images showed tissue loss in the calcarine and parietal cortices and cerebellar folia. The youngest had quadriplegia, blindness, and severe mental retradation until their deaths. The brain of the 8‐year‐old who died at age 30 showed cortical atrophy, neuronal loss, and gliosis, most pronounced in the paracentral and parietooccipital regions. The total mercury level in formalin‐fixed, left occipital cortex was 1,974 ng/gm as measured by atomic absorption. Regional brain mercury levels correlated with extent of brain damage. A control patient had 38.5 ng of mercury/gm in the occipital cortex. Systemic organs in the patient and a control subject had comparable mercury levels. In mercury‐intoxicated rats, we found that only 5 to 10% of total brain mercury was lost by formalin fixation. Brain inorganic mercury in the patient ranged from 82 to 100%. Since inorganic mercury crosses the blood‐brain barrier poorly, biotransformation of methyl to inorganic mercury may have occurred after methylmercury crossed the blood‐brain barrier, accounting for its persistence in brain and causing part of the brain damage.
MRI detects acute degeneration of the nigrostriatal dopamine system after MPTP exposure in hemiparkinsonian monkeys
Authors: Miletich R. S. , Bankiewicz K. S. , Quarantelli M. , Plunkett R. J. , Frank J. , Kopin I. J. , Di Chiro G. 
Published: January 2005

AbstractExposure to 1‐methy1‐4‐pheny1‐1,2,3,6‐tetrahydropyridine (MPTP) can cause an acute chemical toxicity resulting in a parkinsonian state in humans and nonhuman primates. We wished to assess whether the toxicity from MPTP is associated with changes on magnetic resonance images of brain structures containing dopamine neuronal processes or with disrupture of the blood‐brain barrier. Normal rhesus monkeys and monkeys at various times after being subjected to unilateral intracarotid injection of MPTP (0.4 mg/kg) were studied with magnetic resonance imaging using T1‐and T2‐weighted spin‐echo and gradient‐echo sequences. Disrupture of the blood‐brain barrier was assessed also with magnetic resonance imaging after administration of gadolinium‐diethylenetriamine pentaacetic acid. Parkinsonian symptoms contralateral to the infused carotid usually appeared within 1 day after MPTP exposure, reaching their peak severity by 7 days, when all monkeys showed clear clinical abnormalities. Magnetic resonance imaging changes developed in concomitance with the clinical signs and were characterized by increased signal intensity on T2‐weighted images as well as decreased intensity on T1‐weighted images of the ipsilateral caudate and putamen. T2 hyperintensity was also present just dorsal to the pars compacta of the substantia nigra, in the region of the proximal nigrostriatal tract. All magnetic resonance imaging changes in the next 2 weeks. There were no abnormalities at any time in the globus pallidus, nucleus accumbens, and other structures innervated by the mesocorticolimbic dopamine system. After MPTP exposure, there was no evidence of blood‐brain barrier disrupture, suggesting that vasogenic edema was an unlikely factor in the production of the observed abnormalities. The signal intensity changes on magnetic resonance images are most probably asociated with cytotoxic edema caused by the acute MPTP‐induced degeneration of nigrostriatal dopamine nerve terminals and axons. Follow‐up by magnetic resonance imaging, to 3 years after MPTP infusion, failed to reveal any residual abnormalities.
The relationship of essential tremor to other movement disorders: Report on 678 patients
Authors: Koller William C. , Busenbark Karen , Miner Kevin ,   The Essential Tremor Study Group
Published: January 2005

AbstractWe examined 678 essential tremor patients in specialty, university, and private practice clinics. The mean age of patients was 65.2 years with a similar number of men and women. Six percent of patients were left‐handed. A positive family history of tremor was reported in more than 60% of patients. Alcohol ingestion was reported to decrease tremor in 74% of patients who were cognizant of the effect of alcohol on tremor. Mean age at tremor onset was 45.3 years. An earlier onset of tremor was observed in those patients having a positive family history of tremor. Tremor affected the hands in 90% of patients, head in 50%, voice in 30%, and legs and chin in 15%. Functional disability was common and impairment at work occurred in 18% Propranolol and primidone were the most frequently used drugs and were effective in 40% of patients. Six and one‐tenth percent of essential tremor patients had concomitant Parkinson's disease, 6.9% had a coexisting dystonia, and 1.8% had myoclonus. It is concluded that the frequency of Parkinson's disease in essential tremor is more than would be reported in the general population and that other movement disorders are infrequently observed in essential tremor.
Chromosomal fragility associated with familial Alzheimer's disease
Authors: Ettinger Susan , Weksler Marc E. , Zhou Xianting , Blass John , Szabo Paul 
Published: January 2005

AbstractTo test whether chromosomal instability is associated with familial Alzheimer's disease, we examined breakage on X chromosomes of fibroblasts derived from patients with familial Alzheimer's disease, using gene cotransfer methodology. The X chromosome is a convenient target for analyzing DNA breakage because of its numerous markers and ease of selection in rodent‐human hybrid cells. Patients with familial Alzheimer's disease, including the large Nova Scotia Alzheimer's kindred, show a significantly lower cotransfer of the X‐linked glucose‐6‐phosphate dehydrogenase (G6PD) gene with the selected HPRT gene in hybrid cells, indicating breakage between the markers. Lower cotransfer of the more distant X‐linked gene, MIC‐2, was statistically significant in this kindred, but not in other patients with familial Alzheimer's disease. The distance between MIC2 and HPRT is sixfold to ninefold greater than that between HPRT and G6PD, suggesting that there may be a “hot spot” for breakage in the latter interval on the X chromosome of patients with familial Alzheimer's disease. The somatic cell hybrid model provides insights into underlying mechanisms for chromosomal breakage induced by the Alzheimer defect. A hypothesis implicating a candidate gene, C1‐THF synthase, in the generation of chromosome instability in the pathogenesis of familial Alzheimer's disease, is presented.
Vestibular syndromes in the roll plane: Topographic diagnosis from brainstem to cortex
Authors: Brandt Thomas , Dieterich Marianne 
Published: January 2005

AbstractCentral vestibular syndromes may be classified according to the three major planes of action of the vestibuloocular reflex, secondary to a lesional tone imbalance in either the horizontal yaw plane or the vertical pitch or roll plane. The clinical signs, both perceptual and motor, of a vestibular tone imbalance in the roll plane are ocular tilt reaction (OTR), ocular torsion, skew deviation and tilts of the perceived visual vertical (SVV). Either complete OTR or skew torsion without head tilt indicates a unilateral peripheral deficit of otolith input or a unilateral lesion of graviceptive brainstem pathways from the vestibular nuclei (crossing midline at the pontine level) to the interstitial nucleus of Cajal (INC) in the rostral midbrain. SVV tilts are the most sensitive sign of a vestibular tone imbalance in roll and occur with peripheral or central vestibular lesions from the labyrinth to the vestibular cortex. All tilt effects, perceptual, ocular motor and postural, are ipsiversive (ipsilateral eye undermost) with unilateral peripheral or pontomedullary lesions below the crossing of the graviceptive pathways. All tilt effects are contraversive (contralateral eye undermost) with unilateral pontomesencephalic brainstem lesions and indicate involvement of the medial longitudinal fasciculus or the rostral midbrain (INC). Unilateral lesions of vestibular structures rostral to the INC typically manifest with deviations of perceived vertical without concurrent eye–head tilt. OTR in unilateral paramedian thalamic infarctions indicates simultaneous ischemia of the paramedian rostral midbrain including the INC. Unilateral lesions of the posterolateral thalamus can cause thalamic astasia and moderate ipsiversive or contraversive SVV tilts, thereby indicating involvement of the vestibular thalamic subnuclei. Unilateral lesions of the parietoinsular vestibular cortex cause moderate, mostly contraversive SVV tilts. An SVV tilt found with monocular but not with binocular viewing is typical for a trochlear or oculomotor palsy rather than a supranuclear graviceptive brainstem lesion.
Chromosome 14–encoded Alzheimer's disease: Genetic and clinicopathological description
Authors: Haltia Matti , Viitanen Matti , Sulkava Raimo , Ala‐Hurula Veli , Poyhonen Minna , Goldfarb Lev , Brown Paul , Levy Efrat , Houlde Henry , Crook Richard , Goate Alison , Clark Robert , Korenblat Kevin , Pandit Sunil , Keller Helen Donis , Llius Lena , Liu Li , Axelman Karin , Forsell Lotta , Winblad Bengt , Lannfelt Lars , Hardy John 
Published: January 2005

AbstractA family of Finnish descent with very‐early‐onset Alzheimer's disease has been identified. Genetic analysis of this family eliminated the amyloid precursor protein gene as the pathogenic locus, but strongly implicated a locus on chromosome 14q23.4 between D14S52 and D14S55. The early age at onset of the disease (average, 36 years; range, 35–39 years), the rapid progression, and the early and prominent myoclonus, while they appear to be frequent findings in the chromosome 14–encoded form of Alzheimer's disease, raised the clinical suspicion of prion disease. However, sequencing the prion gene–coding region of 2 affected members of the pedigree failed to show any abnormality. Apart from the presence of modest cortical vacuolar change, the pathological features of our index patient appeared typical of Alzheimer's disease with abundant senile plaques immunoreactive with beta‐amyloid, but not with prion protein antibodies.
The apolipoprotein E ε4 allele does not influence the clinical expression of the amyloid precursor protein gene codon 693 or 692 mutations
Authors: Haan Joost , Van Broeckhoven Christine , Van Duijn Cornelia M. , Voorhoeve Els , van Harskamp Frans , van Swieten John C. , Maat‐Schieman Marion L. C. , Roos Raymund A. C. , Bakker Egbert 
Published: January 2005

AbstractIn 31 symptomatic and 5 asymptomatic carriers of the amyloid precursor protein (APP) gene codon 693 mutation, 10 family members without mutation, and 5 carriers of the APP gene codon 692 mutation (3 with early‐onset Alzheimer dementia, 2 with cerebral hemorrhage), a high frequency of the apolipoprotein E ϵ4 allele was found. Age at onset, age at death, occurrence of dementia, and number of strokes did not differ between APP gene mutation carriers with or without ϵ4 allele, showing that the clinical expression of these APP mutations is not influenced by the apolipoprotein E gene.
Neurological complications of organ transplantation
Authors: Patchell Roy A. 
Published: January 2005

AbstractOver the last thirty years, organ transplantation has become a practical treatment option for many otherwise fatal diseases. New immunosuppressive agents, advances in tissue matching, and improvements in surgical technique have increased both the number and type of transplants performed. Kidney, bone marrow, heart, lung, liver, and pancreas transplants are now used regularly in the treatment of end‐stage disease. However, these advances have come at a price. Transplant recipients are subject to numerous complications, many of which involve the nervous system. Depending on the type of organ transplanted, 30 to 60% of transplant recipients experience neurological problems. Most neurological complications, especially those related to immunosuppression, are common to all transplant types; other complications are associated predominantly with specific transplant types. This report reviews the general categories of neurological complications as well as the specific problems associated with each kind of transplant.
The shoulder–hand syndrome after stroke: A prospective clinical trial
Authors: Braus Dieter F. , Krauss Joachim K. , Strobel Jörg 
Published: January 2005

AbstractShoulder‐hand syndrome developed in 36 (27%) of 132 hemiplegic patients in a prospective study. Subluxation, paresis of the shoulder girdle, moderate spasticity, and deficits in confrontation visual field testing were the major risk factors. In a placebo‐controlled, nonblinded trial, 31 of the 36 patients became almost symptom free within 10 days' treatment with low doses of oral corticosteroids. Shoulder joint capsules taken at autopsy of 7 patients showed signs of previous trauma of the affected shoulder. In the second part of this study on another 86 patients, early awareness of potential injuries to shoulder joint structures reduced the frequency of shoulder‐hand syndrome from 27 to 8%. These clinical findings suggest that shoulder‐hand syndrome in hemiplegia is initiated by peripheral lesions. A self‐perpetuating vicious cycle may be established, followed by the clinical picture of a “reflex sympathetic dystrophy.” In the majortity of stroke patients, this clinical phenomenon seems to be preventable by avoiding shoulder trauma.
Myelin basic protein peptide specificity and T‐cell receptor gene usage of HPRT mutant T‐cell clones in patients with multiple sclerosis
Authors: Lodge Patricia A. , Allegretta Mark , Steinman Lawrence , Sriram Subramaniam 
Published: January 2005

AbstractCharacterization of T cells responding to autoantigens is central to understanding autoimmune disease. We have used somatic mutation at the hypoxanthine guanine phosphoribosyltransferase (HPRT) gene as an index of T‐cell amplification in vivo. With this strategy we previously showed that myelin basic protein–reactive T cells can be isolated only from the HPRT mutant T‐cell population cultured from the peripheral blood of multiple sclerosis patients and not from normal individuals. In this study, 165 HPRT mutant and 104 wild‐type clones were examined for their reactivity to myelin basic protein and overlapping peptides of myelin basic protein. Five HPRT mutant clones that recognized myelin basic protein and myelin basic protein peptides along with three clones that responded to myelin basic protein peptide alone were isolated. All but one of the eight clones recognized peptides derived from the carboxy terminus of myelin basic protein (p84‐168). Sequence analysis showed heterogeneous expression of T‐cell receptor Vα and Vβ genes and CDR3s. These studies showed that in vivo amplified autoimmune T cells from patients with long‐standing disease use diverse T‐cell receptor elements in the recognition of C‐terminal myelin basic protein peptides.
Chronic relapsing axonal neuropathy: A first case report
Authors: Chroni Elisabeth , Hall Susan M. , Hughes Richard A. C. 
Published: January 2005

AbstractA relapsing and remitting axonal polyneuropathy developed in a woman at age 47. Serial electrophysiological studies showed that the amplitudes of compound muscle action potentials and sensory action potentials were reduced but conduction velocities were only midly slowed. F wave latencies were normal and there was no evidence of conduction block. Two sural nerve biopsy specimens showed changes supportive of axonal neuropathy. Repeated responses to prednisolone alone and later prednisolone and azathioprine suggested that inflammatory, possibly autoimmune, processes were important in this case of chronic relapsing axonal neuropathy.
Apolipoprotein E genotypes in Parkinson's disease with and without dementia
Authors: Koller William C. , Glatt Sander L. , Hubble Jean P. , Paolo Anthony , Tröster Alexander I. , Schmidt Karen , Karst Annette , Handler Michael S. , Horvat Rebecca T. , Martin Coleman , Wijsman Ellen M. , Yu Chang‐En , Schellenberg Gerard D. 
Published: January 2005

AbstractThe apolipoprotein E gene (Apo E) type 4 allele is a genetic risk factor influencing the development and age of onset of Alzheimer's disease. Because Parkinson's disease shares many characteristics of Alzheimer's disease, we studied the frequencies of Apo E genotypes in a cohort of 52 Parkinson's disease patients with dementia and 61 patients without dementia. Dementia was determined per National Institute of Neurological and Communicative Disorders and Stroke criteria and Mattis Dementia Rating Scale (DRS) < 126. Normal cognition was defined as DRS > 132. Apo E genotype and allele frequencies did not differ between demented and nondemented parkinsonian patients. Neither group's genotype and allele frequencies differed from that of a nondemented population of 78 controls. We conclude that the Apo E ε4 allele influences neither the development of Parkinson's disease nor the dementia associated with Parkinson's disease nor the dementia associated with Parkinson's disease.
Damage to dopamine systems differs between parkinson's disease and alzheimer's disease with parkinsonism
Authors: Murray Angela M. , Weihmueller Fredric B. , Marshall John F. , Hurtig Howard I. , Gottleib Gary L. , Joyce Jeffrey N. 
Published: January 2005

AbstractParkinsonism occurs in approximately 35 to 40% of patients with Alzheimer's disease (AD) even with little or no neuronal degeneration in the substantia nigra, which in idiopathic Parkinson's disease (PD) results in the severe loss of striatal dopamine transporter sites. It is not known if there is a loss of striatal dopamine transporter sites in AD with coexistent parkinsonism (AD/parkinsonism). We quantified the pattern of these sites in the striatum and midbrain of patients with the clinical diagnosis of PD, AD, and AD/parkinsonism in comparison with a group of age‐matched control subjects. We also quantified the number of D2 receptors and the levels of tyrosine hydroxylase in the substantia nigra and ventral tegmental area of same groups. The results showed that in AD the loss of dopamine transporter sites was restricted to the nucleus accumbens. The loss of these sites in the AD/parkinsonism group was more extensive than in the AD group, with the most severe losses in the rostral caudate and putamen and least in the caudal caudate and putamen. While the PD group showed an equally severe reduction in numbers of sites, the caudal to rostral gradient of loss differed from that in the AD/parkinsonism group. The PD group also showed a marked loss of dopamine transporter sites, tyrosine hydroxylase, and D2 autoreceptors (located on dopamine neurons) in the substantia nigra and ventral tegmental area. In contrast, no reductions in dopamine transporter sites, tyrosine hydroxylase, and D2 autoreceptors were observed in the substantia nigra and ventral tegmental area of the AD or AD/parkinsonism groups. Thus, the loss of striatal dopamine transporter sites in AD/parkinsonism may be related to the clinical parkinsonian symptoms. However, the loss is not simply the result of neuronal degeneration in the substantia nigra, but must derive from other processes.