bluuebunny/crossref_metadata_2025_split huggingface dataset:
Cerebral amyloid angiopathy without and with cerebral hemorrhages: A comparative histological study
Authors: Vonsattel Jean Paul G. , Myers Richard H. , Tessa Hedley‐Whyte E. , Ropper Allan H. , Bird Edward D. , Richardson Edward P. 
Published: January 2005

AbstractTo identify those factors associated with cerebral hemorrhage among brains with cerebral amyloid angiopathy (CAA), we undertook a comparative postmortem histopathological study of amyloid‐containing vessels in the brains of patients with and without hemorrhage. Those without hemorrhage were represented by the following two groups: (1) elderly patients from a large general hospital (n = 66; age range, 75–107 years) and (2) patients with various neuropsychiatric disorders (n = 70; age range, 27–96 years). CAA was found in 45% of thefirst group and in 54% of the second group. The findings in these patients were compared with those in 17 brains in which both CAA and cerebral hemorrhage were present. We found that CAA was more severe in the brains with cerebral hemorrhage than in those without, and that fibrinoid necrosis was seen only in the brains with cerebral hemorrhage (12 of the 17 brains). Microaneurysms occurred only in the presence of severe, rather than moderate or mild, CAA. Serial sections in 2 brains of patients with cerebral hemorrhage showed fibrinoid necrosis, microaneurysms, and vascular rupture in close association with the hemorrhage. In 2 patients, hemorrhage was precipitated by trauma, and in 1, it was secondary to metastatic carcinoma. The features of brains from patients with CAA that are most consistently related to cerebral hemorrhage are (1) a severe degree of CAA and (2) the presence of fibrinoid necrosis, with or without microaneurysms.
Chronic cardiomyopathy and weakness or acute coma in children with a defect in carnitine uptake
Authors: Stanley Charles A. , DeLeeuw Susan , Coates Paul M. , Vianey‐Liaud Christine , Divry Priscille , Bonnefont Jean‐Paul , Saudubray Jean‐Marie , Haymond Morey , Trefz Friedrich K. , Breningstall Galen N. , Wappner Rebecca S. , Byrd Dennis J. , Sansaricq Claude , Tein Ingrid , Grover Warren , Valle David , Rutledge S. Lane , Treem William R. 
Published: January 2005

AbstractA defect in intracellular uptake of carnitine has been identified in patients with severe carnitine deficiency. To define the clinical manifestations of this disorder, the presenting features of 15 affected infants and children were examined. Progressive cardiomyopathy, with or without chronic muscle weakness, was the most common presentation (median age of onset, 3 years). Other patients presented with episodes of fasting hypoglycemia during the first 2 years of life before cardiomyopathy had become apparent. A defect in carnitine uptake was demonstrable in fibroblasts and leukocytes from patients. The defect also appears to be expressed in muscle and kidney. Concentrations of plasma carnitine and rates of carnitine uptake in parents were intermediate between affected patients and normal control subjects, consistent with recessive inheritance. Early recognition and treatmnent with high doses of oral carnitine may be life‐saving in this disorder of fatty acid oxidation.
Paramyotonia congenita and hyperkalemic periodic paralysis are linked to the adult muscle sodium channel gene
Authors: Ebers G. C. , George A. L. , Barchi R. L. , Ting‐Passador S. S. , Kallen R. G. , Lathrop G. M. , Beckman J. S. , Hahn A. F. , Brown W. F. , Campbell R. D. , Hudson A. J. 
Published: January 2005

AbstractThe hyperkalemic periodic paralyses are a clinically heterogeneous group of autosomal dominant syndromes characterized by episodic paralysis associated with an elevated serum potassium level. Affected individuals in the same family tend to have homogeneous symptom complexes, although phenotypic variation is present among different families. For example, myotonia is absent in some pedigrees, present in others, and, in a third variant, paramyotonia congenita, myotonia coexists with cold‐induced paralysis. Electrophysiological studies have demonstrated variant‐specific abnormalities in skeletal muscle membrane sodium conductance. We tested the hypothesis that hyperkalemic periodic paralysis (without myotonia) and paramyotonia congenita are tightly linked to the tetrodotoxin‐sensitive adult skeletal muscle sodium channel gene on chromosome 17q23‐25 in two large pedigrees. The DNA polymorphisms detected in the growth hormone skeletal muscle sodium channel complex (GH1‐SCN4A) and by flanking polymorphic markers (D17S74 and D17S40) demonstrated no recombinants between the disease phenotypes and this complex. Phenotypic variation in the hereditary hyperkalemic periodic paralyses may result from allelic heterogeneity at the tetrodotoxin‐sensitive adult skeletal muscle sodium channel locus.
Occipital lobe epilepsy: Clinical characteristics, seizure spread patterns, and results of surgery
Authors: Williamson P. D. , Thadani V. M. , Darcey T. M. , Spencer D. D. , Spencer S. S. , Mattson R. H. 
Published: January 2005

AbstractTwenty‐five patients with occipital lobe seizure origin were retrospectively evaluated to determine clinical seizure characteristics and electroencephalographic manifestations. Certain symptoms and signs served to identify occipital lobe origin in 22 (88%). These included elementary visual hallucinations, ictal amaurosis, eye movement sensations, early forced blinking or eyelid flutter, and visual field deficits. Eye or head deviation, or both, was observed frequently and was contralateral to the side of seizure origin in 13, but 3 patients exhibited ipsilateral deviation in some or all their seizures. After the initial signs and symptoms, clinical seizure characteristics resembled those of seizures originating elsewhere. Seizures typical of temporal lobe origin with loss of contact and various types of automatic, semipurposeful activity occurred in 11 patients. Seizures in 3 patients exhibited asymmetrical tonic or focal clonic motor patterns characteristic of frontal lobe seizures. Eleven of the 25 patients had, on two occasions, two or more distinctly different seizure types. Scalp electroencephalographic findings were seldom helpful for occipital lobe localization and were frequently misleading. Intracranial electroencephalographic recording correctly identified occipital lobe seizure origin in most, but not all, patients who had such studies. Intracranial electroencephalic recording also proved the variability in clinical seizure characteristics was related to different seizure spread patterns, medially or laterally above and below the sylvian fissure, both ipsilateral and contralateral to the occipital lobe of seizure origin. Eighteen patients had occipital lobe lesions detected with computed tomographic or magnetic resonance imaging scans or both. Resection of the lesions in 16 patients produced excellent results in 14 (88%). Five patients had temporal lobectomies, with good results in 3, but poor results in 2. Two patients with unlocalized seizures had complete section of the corpus callosum, 1 with a good result and the other with a poor result.
Progressive language disorder due to lobar atrophy
Authors: Snowden J. S. , Neary D. , Mann D. M. A. , Goulding P. J. , Testa H. J. 
Published: January 2005

AbstractSixteen patients with progressive language disorder have been studied longitudinally. Anomia was a prominent presenting characteristic and mutism ultimately occurred. Patients, however, were clinically heterogeneous. Some exhibited nonfluent, agrammatic features, whereas others demonstrated a fluent aphasia, with profound loss of word meaning. Although language disorder remained the sole symptom in a minority of patients, in others an associative agnosia or personality and behavioral changes, or both, emerged. Findings on computed tomography and single photon emission tomography mirrored the areas of dysfunction suggested by the neuropsychological profiles and demonstrated abnormalities restricted to the left hemisphere or involving bilateral frontotemporal cortices. Brains of 3 patients, with distinctive clinical pictures, have been examined at autopsy. Each revealed a focal distribution of atrophy, gliosis and spongiform change, and an absence of senile plaques and neurofibrillary tangles. There was clinical and pathological overlap with frontal lobe dementia. We argue that progressive language disorder is clinically heterogeneous and forms part of a spectrum of clinical presentations of non‐Alzheimer lobar atrophy.
Genetic association and linkage analysis of the apolipoprotein CII locus and familial Alzheimer's disease
Authors: Schellenberg Gerad D. , Boehnke Michael , Wijsman Ellen M. , Moore Deborah K. , Martin George M. , Bird Thomas D. 
Published: January 2005

AbstractWe previously reported a genetic association between the 3.5 kb (F) Taq I restriction fragment length polymorphism allele of the apolipoprotein CII gene on chromosome 19 and familial Alzheimer's disease. Here, we report an additional analysis of this association performed on an expanded and better defined data set of 23 families with familial Alzheimer's disease. The F allele frequency in affected family members in the expanded set was 0.62 ± 0.06 (mean ± standard error, n = 51 subjects), which differed significantly from a frequency of 0.39 ± 0.02 (n = 226) for unrelated control subjects (Z = 3.75, p < 0.0002). These results are consistent with our previous findings and suggest an association between the F allele of apolipoprotein CII and familial Alzheimer's disease. When the apolipoprotein CII locus was tested for linkage to familial Alzheimer's disease, LOD scores summed for the complete group of families were negative and close linkage was excluded. Close linkage was also excluded for early‐onset families (mean onset age ≤ 60 years), but small positive LOD scores were obtained for late‐onset kindreds.
Experimental conduction block induced by serum from a patient with anti‐GM1 antibodies
Authors: Santoro Maria , Uncini Antonino , Corbo Massimo , Staugaitis Susan M. , Thomas Florian P. , Hays Arthur P. , Latov Norman 
Published: January 2005

AbstractIncreased titers of antibodies to GM1 ganglioside in humans are associated with lower motor neuron disease and predominantly motor neuropathy with or without conduction block. To investigate the possible mechanism of these antibodies, we injected the serum of a patient with anti‐GM1 antibodies who had motor neuron disease and multifocal motor conduction block, into rat sciatic nerve. When injected with fresh human complement, the serum‐induced conduction block with temporal dispersion and deposits of immunoglobulin were detected at the nodes of Ranvier. Electron microscopic studies revealed demyelination in 6.5% of the fibers. After preabsorbtion with GM1, the serum had no effect, suggesting that the anti‐GM1 antibodies were responsible for the conduction abnormalities.
MELAS: Clinical features, biochemistry, and molecular genetics
Authors: Ciafaloni E. , Ricci E. , Shanske S. , Moraes C. T. , Silvestri G. , Hirano M. , Simonetti S. , Angelini C. , Donati M. A. , Garcia C. , Martinuzzi A. , Mosewich R. , Servidei S. , Zammarchi E. , Bonilla E. , DeVivo D. C. , Rowland L. P. , Schon E. A. , DiMauro S. 
Published: January 2005

AbstractWe studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic acidosis, and stroke‐like episodes (MELAS), 25 oligosymptomatic or asymptomatic maternal relatives, and 50 mitochondrial disease control subjects for the presence of a previously reported heteroplasmic point mutation at nt 3,243 in the transfer RNALeu(UUR) gene of mitochondrial DNA. We found a high concordance between clinical diagnosis of MELAS and transfer RNALeu(UUR) mutation, which was present in 21 of the 23 patients with MELAS, all 11 oligosymptomatic and 12 of 14 asymptomatic relatives, but in only five of 50 patients without MELAS. The proportion of mutant genomes in muscle ranged from 56 to 95% and was significantly higher in the patients with MELAS than in their oligosymptomatic or asymptomatic relatives. In subjects in whom both muscle and blood were studied, the percentage of mutations was significantly lower in blood and was not detected in three of 12 asymptomatic relatives. The activities of complexes I + III, II + III, and IV were decreased in muscle biopsies harboring the mutation, but there was no clear correlation between percentage of mutant mitochondrial DNAs and severity of the biochemical defect.
Wallenberg's syndrome: Lateropulsion, cyclorotation, and subjective visual vertical in thirty‐six patients
Authors: Dieterich Marianne , Brandt Thomas 
Published: January 2005

AbstractWe measured the subjective visual vertical, cyclorotation of the eyes, and head and body lateropulsion in 36 patients with Wallenberg's syndrome. All patients exhibited significant tilts of the internal representation of the gravity vector, as indicated by deviation of subjective visual vertical ipsiversive to the lesion. Most patients (82%) had ipsiversive cyclorotation of one or both eyes, especially excyclotropia of the eye ipsilateral to the brainstem lesion. Twelve of 36 patients (33%), those with the most severe body lateropulsion, had a complete ocular tilt reaction consisting of head tilt, skew deviation, and cyclorotation in the roll plane. We hypothesize that deviation of subjective visual vertical, lateropulsion of the body, and cyclorotation of the eyes are the perceptual, the ocular motor, and the postural consequences of a common lesion of central vestibular pathways that subserve the vestibuloocular reflex in the roll plane. Lateropulsion in patients with Wallenberg's syndrome is interpreted as a postural consequence of an abnormal tilt of the internal representation of orientation in space.
Fabry disease: Immunocytochemical characterization of neuronal involvement
Authors: de Veber Gabrielle A. , Schwarting Gerald A. , Kolodny Edwin H. , Kowall Neil W. 
Published: January 2005

AbstractFabry disease is an X‐linked glycosphingolipid storage disease caused by deficiency of α‐galactosidase. Storage of globotriaosylceramide, also known as ceramide trihexoside, is maximal in blood vessels but also occurs in neurons. We performed neuropathological histochemical studies on the brains and spinal cords of 2 patients with confirmed Fabry disease. Luxol fast blue–positive deposits were found in blood vessels throughout the central and peripheral nervous system and within selected neurons in spinal cord and ganglia, brainstem, amygdala, hypothalamus, and entorhinal cortex. Regions adjacent to involved neuronal groups, including nucleus basalis, striatum, globus pallidus, and thalamus, were spared. Electron microscopy showed lamellar cytoplasmic neuronal inclusion bodies. Using a monoclonal antibody reactive with ceramide trihexoside, we found more extensive neuronal deposition than evident by Luxol‐fast blue staining and new areas of neuronal storage in the spinal cord and cerebral cortex. Blood vessels throughout the nervous system were strongly immunoreactive. The highly selective pattern of neuronal involvement we found suggests that glycosphingolipid exposure, uptake, or catabolism varies greatly with respect to neuronal morphology and distribution. The degree of toxicity to neurons and the clinical significance of this neuronal storage remains to be defined.
Preferential loss of striato‐external pallidal projection neurons in presymptomatic Huntington's disease
Authors: Albin Roger L. , Reiner Anton , Anderson Keith D. , Dure Leon S. , Handelin Barbara , Balfour Rosemary , Whetsell William O. , Penney John B. , Young Anne B. 
Published: January 2005

AbstractWe have reported previously that striatal projection neurons are differentially affected in the course of Huntington's disease, and in a prior patient report we noted that differential loss of striatal projection neurons occurs also in patients with presymptomatic Huntington's disease. Striatal neurons projecting to the external segment of the globus pallidus or the substantia nigra show evident loss, whereas those projecting to the internal segment of the globus pallidus appear relatively spared at presymptomatic and early stages of symptomatic Huntington's disease. We now report similar findings in a second apparently presymptomatic Huntington's disease allele carrier.
Suspected low‐grade glioma: Is deferring treatment safe?
Authors: Recht Lawrence D. , Lew Robert , Smith Thomas W. 
Published: January 2005

AbstractDeferring therapeutic intervention may worsen outcome in patients with low‐grade glioma. To address this issue, we searched our records and located 26 patients who presented with a transient event (most often seizures), who had radiographic evidence strongly suggestive of a low‐grade primary supratentorial neoplasm, and for whom all therapy (except anticonvulsants) was withheld until deemed necessary (WAIT Group). For comparison, 20 patients who presented similarly, but for whom immediate intervention was elected, served as a comparison group (NOWAIT Group). Fifteen patients in the WAIT Group required eventual surgery or radiation therapy at intervals ranging from 4 to 123 months (median, 29 months) between radiographic diagnosis and therapeutic intervention; reasons for such intervention included increasing tumor size, uncontrollable seizures, or malignant transformation of tumor. At surgery, there was an increased number of anaplastic tumors noted in the patients in the WAIT Group (p < 0.02); nevertheless, if the rate of malignant transformation was examined from time of diagnosis, no differences were noted between the patients in the two groups. Similarly, no difference in survival or quality of life could be demonstrated from time of radiographic diagnosis. Therefore, we could not demonstrate that deferring therapy worsens outcome for these patients.
Motor nerve biopsy in severe Guillain‐Barré syndrome
Authors: Hall Susan M. , Hughes Richard A. C. , Atkinson Penny F. , McColl Ian , Gale Andrew 
Published: January 2005

AbstractWe undertook a biopsy of a terminal branch of the musculocutaneous nerve in a man with severe Guillain‐Barré syndrome and very small distally evoked action potentials. The biopsy showed pronounced subperineurial edema, macrophage infiltration, and many axons that had been completely demyelinated, some associated with intratubal macrophages. The biopsy unequivocally indentified the pathological process as primary demyelination, not axonal degeneration, and was more informative than previous reports of sural nerve biopsies in patients with Guillain‐Barré syndrome.
Localization of herpes simplex virus and varicella zoster virus DNA in human ganglia
Authors: Mahalingam R. , Wellish M. C. , Dueland A. N. , Cohrs R. J. , Gilden D. H. 
Published: January 2005

AbstractHuman dorsal root ganglia from 14 randomly autopsied adults and 1 infant (all seropositive for both herpes simplex virus [HSV] and varicella zoster virus [VZV]) were examined for latent HSV‐1 and VZV DNA by polymerase chain reaction. Thoracic ganglionic DNA from all subjects and trigeminal ganglionic DNA from 11 adults were analyzed. HSV‐1 DNA was detected in trigeminal ganglia from 8 of 11 (73%) adults and in thoracic ganglia from 2 of 14 (14%) adults. VZV DNA was detected in trigeminal ganglia from 10 of 11 (91%) adults and in thoracic ganglia from 12 of 14 (86%) adults. None of the DNA samples were positive with primers specific for HSV‐2. These findings indicate the presence of latent HSV‐1 and VZV DNA in trigeminal ganglia and latent VZV DNA in thoracic ganglia of most seropositive adults. Furthermore, although HSV‐1 latency most commonly develops in trigeminal ganglia, we also show for the first time the presence of HSV‐1 latency in thoracic ganglia. Finally, both viruses can become latent in the same trigeminal ganglion.
Paresis of contralateral smooth pursuit and normal vestibular smooth eye movements after unilateral brainstem lesions
Authors: Johnston Janine L. , Sharpe James A. , Morrow Mark J. 
Published: January 2005

AbstractPursuit and vestibular smooth eye movements were measured in patients with lesions of the caudal brainstem tegmentum identified by magnetic resonance imaging (MRI) and computed tomography (CT), with neuropathological correlation in 1 patient. Contralateral smooth pursuit gain was significantly lower than ipsilateral gain in each patient. Ipsilateral smooth pursuit gain was also subnormal in patients with unilateral pontine damage that caused slowing of ipsilateral saccades. Horizontal vestibulo‐ocular reflex gain and phase were normal. These quantitative correlations indicate that lesions of the pontine tegmentum that paralyze ipsilateral saccades can spare the vestibulo‐ocular reflex, and that smooth pursuit movement and the vestibulo‐ocular reflex can be impaired independently by pontine or medullary lesions. In contrast to lesions at other sites, unilateral lesions of the pontine or medullary tegmentum impair contralateral smooth pursuit more than ipsilateral pursuit movements. These findings provide evidence that a double decussating pathway mediates smooth pursuit; the first decussation is from the pons to the cerebellum, and the second decussation is from the vestibular nucleus to the contralateral abducens nucleus.
Selective culture of mitotically active human Schwann cells from adult sural nerves
Authors: Rutkowski J. Lynn , Tennekoon Gihan I. , McGillicuddy John E. 
Published: January 2005

AbstractWe devised a simple method to isolate mitotically active human Schwann cells from sural nerve biopsy specimens and expand the population in culture. Nerve fascicles were treated with cholera toxin for 7 days in culture before dissociation, which increased the cell yield at least twenty‐five–fold over immediated tissue dissociation. Digesting the tissue completely with enzymes in serum‐containing medium resulted in the highest cell viability, and released 2 to 6 × 104 cells/mg of tissue. Seeding the cells on a poly‐L‐lysine substrate in a small volume of serum‐free medium optimized the plating efficiency. Although Schwann cells comprised 90% of the initial culture population, their numbers declined over time due to a faster mitotic rate of the fibroblasts in the presence of cholera toxin alone. However, treating the cultures with a combination of cholera toxin and forskolin, which act synergistically to elevate cyclic AMP levels, inhibited fibroblast growth without causing Schwann cell toxicity. Adding glial growth factor to the adenyl cyclase activators maximized Schwann cell proliferation, and the population rapidly and selectively expanded. Therefore, it should be possible to generate large numbers of Schwann cells from diseased nerves to study defects in cell function or from normal nerves to study the effects of Schwann cell grafts on neuronal regeneration.
GAP‐43 gene expression is increased in anterior horn cells of amyotrophic lateral sclerosis
Authors: Parhad Irma M. , Oishi Roderick , Clark Arthur W. 
Published: January 2005

AbstractIn amyotrophic lateral sclerosis (ALS), neuronal loss and axonal degeneration occur in motor neurons. Although there is limited axonal regeneration, surviving motor neurons send collateral sprouts to denervated muscle fibers. GAP‐43, a protein enriched in growth cones and synaptic terminals, is thought to have a role in axonal elongation and synaptogenesis. GAP‐43 messenger RNA (mRNA) expression was evaluated in ALS spinal cords using Northern blot analysis and in situ hybridization to assess whether surviving neurons can mount an appropriate response to injury. There was a two‐ to four‐fold increase in GAP‐43 mRNA in ALS that localized to the anterior horn cells. The increase in GAP‐43 mRNA indicates that the mechanism which leads to degeneration in ALS does not compromise the neuron's capacity for vigorous expression of growth‐associated proteins.