bluuebunny/crossref_metadata_2025_split huggingface dataset:
Effectiveness of botulinum toxin administered to abolish acquired nystagmus
Authors: Leigh R. John , Tomsak Robert L , Grant Michael P. , Remler Bernd F. , Yaniglos Stacy S. , Lystad Lisa , Dell'Osso Louis F. 
Published: January 2005

AbstractWe injected botulinum toxin into the horizontal rectus muscles of the right eyes of 2 patients who had acquired pendular nystagmus with horizontal, vertical, and torsional components. This treatment successfully abolished the horizontal component of the nystagmus in the injected eye in both patients for approximately 2 months. Both patients showed a small but measurable improvement of vision in the injected eye that may have been limited by coexistent disease of the visual pathways. The vertical and torsional components of the nystagmus persisted in both patients. In 1 patient, the horizontal component of nystagmus in the noninjected eye increased; we ascribe this finding to plastic‐adaptive changes in response to paresis caused by the botulinum toxin. Such plastic‐adaptive changes and direct side effects of the injections—such as diplopia and ptosis—may limit the effectiveness of botulinum toxin in the treatment of acquired nystagmus. Neither patient elected to repeat the botulinum treatment.
Blood‐brain barrier abnormalities in acquired immunodeficiency syndrome: Immunohistochemical localization of serum proteins in postmortem brain
Authors: Petito Carol K. , Cash Kevin S. 
Published: January 2005

AbstractAbnormalities in the blood‐brain barrier (BBB) may be important in mediating some of the tissue damage that accompanies human immunodeficiency virus (HIV) infection of the brain, as well as in facilitating viral entry into the central nervous system. Accordingly, immunohistochemical detection of fibrinogen (FIB) and immunoglobulin G (IgG) was used as a marker of vascular permeability in formalin‐fixed, paraffin‐embedded brains of patients with acquired immunodeficiency syndrome (AIDS) who had HIV encephalitis (HIVE) (n = 17) and those who did not have HIVE (n = 16); nonimmunosuppressed patients served as control subjects (n = 22). The sex ratios and postmortem intervals were similar in all groups (p < 0.05), but the age of the two AIDS groups were younger than the control group (43.2 and 40.9 versus 62.5 yr; p < 0.05). The two AIDS groups had higher immunostaining for FIB and IgG than the control group (p < 0.001 and p < 0.0001, respectively) but did not differ from one another. Furthermore, the two AIDS groups had a significantly higher incidence of combined extravasation of both FIB and IgG, whereas the control group had a significantly higher incidence of negative staining for both proteins (p < 0.002). More than 95% of the microglial nodules of HIV were negative for serum proteins; however, all focal lesions with tissue necrosis, including lymphoma, opportunistic infections, and HIV (rarely), contained extravasated serum proteins. These results indicate that a diffuse BBB leak is present in approximately 50% of all patients with AIDS at the time of autopsy and may be seen in the absence of any other brain pathology, including HIVE. In contrast, focal lesions, including those of HIVE, are associated with BBB changes only when necrosis is present. The pathogenesis of the diffuse leak is unknown but may be related to circulating cytokines. Diffuse BBB breakdown may contribute not only to facilitated viral entry into brain, but also to the diffuse myelin pallor and gliosis common to all patients with AIDS.
Disease‐specific patterns of locus coeruleus cell loss
Authors: German Dwight C. , Manaye Kebreten F. , White Charles L , Woodward Donald J. , McIntire Donald D. , Smith Wade K. , Kalaria Rajesh N. , Mann David M. A. 
Published: January 2005

AbstractComputer visualization techniques were used to map and to quantitatively reconstruct the entire locus coeruleus, including the nucleus subcoeruleus, to compare the topographic patterns of cell loss in postmortem brains from patients with Parkinson's disease, Alzheimer's disease, and Down syndrome. There was comparable cell loss in all three diseases (approximately 60%) compared with aged normal subjects, and there was a significant loss of nucleus subcoeruleus cells specifically in patients with Parkinson's disease (63%). There was a significant positive correlation between the magnitude of locus coeruleus cell loss and the duration of Alzheimer's disease, but no such correlation was found for Parkinson's disease. In patients with Parkinson's disease, there was comparable cell loss throughout the rostral‐caudal extent of the nucleus; however, in patients with Alzheimer's disease and Down syndrome, the greatest cell loss always occurred within the rostral portion of the nucleus, with a relative sparing of caudal cells. These data are consistent with the hypothesis that cell loss in Parkinson's disease is the result of a pathological process that attacks the catecholaminergic cells of the locus coeruleus and the subcoeruleus in general; in Alzheimer's disease and Down syndrome, however, the pathological process only affects the rostral, cortical‐projecting locus coeruleus cells and spares the caudal, noncortical‐projecting cells.
Neuropsychological features of familial Alzheimer's disease
Authors: Swearer Joan M. , O'Donnell Brian F. , Drachman David A. , Woodward Beatrice M. 
Published: January 2005

AbstractIt has been proposed that early‐onset familial Alzheimer's disease (FAD) and sporadic Alzheimer's disease (AD) have different causes, with FAD due to a single dominant gene with disease onset before the sixth decade, whereas sporadic AD has a later onset and is not associated with a dominant pattern of inheritance. Given these differences, we questioned whether these etiologically distinct forms of AD also differ neuropsychologically. In this study we performed neuropsychological evaluations on patients from two well‐documented families with FAD and a group of patients with sporadic AD. The groups were matched on global disease severity at entry. Two groups of education and age‐matched normal controls were recruited for comparison. The groups were analyzed for psychometric findings and pattern of deficits. Both patients with FAD and patients with sporadic AD showed a similar pattern of neuropsychological impairment relative to age‐matched controls, i.e., mildly to moderately impaired verbal performance and concentration, severely slowed psychomotor speed, and severely impaired delayed recall of verbal material. There were no differences in pattern suggestive of disproportionately severe anomia, amnesia, agnosia, or apraxia in the early onset FAD group, as has been reported previously.
Multiple sclerosis in 54 twinships: Concordance rate is independent of zygosity
Authors:   French Research Group on Multiple Sclerosis
Published: January 2005

AbstractIn a large population‐based multiple sclerosis (MS) sample (n = 7,951), 116 twins were identified (1.4%), of which it was possible to contact 97. In 27 pairs, the twin of the patient with MS was dead. Among the 70 remaining pairs, 16 were excluded because either the index patient or their twin did not accept protocol requirements. The final sample included 54 pairs. Twin zygosity was determined by DNA fingerprint analysis. We found 17 monozygotic pairs and 37 dizygotic pairs. One of the 17 monozygotic pairs (5.9%) and 1 of the 37 dizygotic pairs (2.7%) were concordant for MS. In 42 of the clinically unaffected twins, magnetic resonance imaging (MRI) of the brain was performed, and 9 scans were classified as indicative of MS. Three of these 42 patients had abnormal visual‐evoked potentials, but all 3 had normal MRI scans. The overall proportion of pairs in which the co‐twin had some form of clinical, radiological, or electrophysiological abnormality was approximately 30%; this proportion was independent of zygosity.
The postpolio syndrome: No evidence for poliovirus persistence
Authors: Melchers Willem , de Visser Marianne , Jongen Peter , Van Loon Anton , Nibbeling Ria , Oostvogel Paul , Willemse Diana , Galama Jochem 
Published: January 2005

AbstractTo investigate the possibility of poliovirus persistence in patients with the postpolio syndrome, we examined skeletal muscle biopsy specimens, cerebrospinal fluid specimens, and sera for the presence of poliovirus RNA by the polymerase chain reaction, and for IgM antibodies by a poliovirus type‐specific IgM antibody‐capture enzyme‐linked immunosorbent assay. In none of these specimens was poliovirus RNA or a poliovirus type‐specific IgM response detected. These results argue against the hypothesis that poliovirus persists in patients with the postpolio syndrome and plays a role in the pathogenesis of the postpolio syndrome.
Impaired activation of the supplementary motor area in Parkinson's disease is reversed when akinesia is treated with apomorphine
Authors: Jenkins I. H. , Fernandez W. , Playford E. D. , Lees A. J. , Frackowiak R. S. J. , Passingham R. E. , Brooks D. J. 
Published: January 2005

AbstractUsing positron emission tomography (PET) we previously showed that activation of the putamen, supplementary motor area, and cingulate cortex is impaired in patients with Parkinson's disease (PD) when they are off treatment and perform volitional motor tasks. Evidence suggests that these areas are involved in the generation of internally cued movements in normal subjects. We have now studied the effect of the dopamine agonist apomorphine on cerebral activation when used to treat the akinesia of PD. Regional cerebral blood flow was measured using C15O2 PET in PD patients at rest and when performing paced joystick movements with the right hand in one of four freely chosen directions. All patients used apomorphine regularly, and were studied before treatment, while still “off” but receiving a subcutaneous apomorphine infusion, and when switched “on” with apomorphine. Significant increases in regional cerebral blood flow were determined using statistical parametric mapping. Under resting conditions apomorphine had no effect on focal or global cerebral blood flow. Seven patients with PD performed the motor task adequately in the “off” and “on” states. This group of subjects demonstrated impaired activation of the supplementary motor area and contralateral putamen in the “off” state. Activation of the supplementary motor area significantly improved when the akinesia was reversed with apomorphine. We conclude that the concomitant improvement of supplementary motor area activation and motor function in apomorphine‐treated patients with PD provides further evidence for the role of this structure in generating motor programs.
Platelet mitochondria function in Parkinson's disease
Authors: Krige David , Carroll Maria T , Cooper J. Mark , Marsden C. David , Schapira Anthony H. V. ,   (The Royal Kings Queens Parkinson Disease Research Group)
Published: January 2005

AbstractThere is increasing evidence that defective function of the mitochondrial enzyme NADH CoQ reductase (complex I) is involved not only in l‐methyl‐4‐phenyl‐l,2,3,6‐tetrahydropyridine (MPTP) toxicity, but also in idiopathic Parkinson's disease (PD). Complex I deficiency has been identified in PD substantia nigra and appears to be disease‐specific and selective for the substantia nigra within the central nervous system. We describe a method for preparation of an enriched mitochondrial fraction from 60 mL blood. Using this technique, we analyzed respiratory chain function in 25 patients with PD and 15 matched control subjects. We confirm a previous report of a specific complex I deficiency in PD platelet mitochondria. Although there was a statistically significant decrease in complex I activity in the PD group compared with the control group (p = 0.005), the defect was mild (16%); it was not possible to distinguish PD from control values on an individual basis. This deficiency is not detectable in platelet whole‐cell homogenates, presumably reflecting the relative insensitivity of this preparation and the limited decrease in complex I activity in PD. The presence of a mild complex I defect in platelets together with a more severe defect in substantia nigra suggests either that the pharmacological characteristics shared by these two tissues render them susceptible to a particular toxin or toxins, or that the defect is widely distributed and other biochemical events enhance the deficiency in substantia nigra. Evidence for a complex I defect in platelet mitochondria from patients with PD supports the proposition that this biochemical deficiency may have some role in the cause of dopaminergic cell death in this disorder.
Relative sparing of nitric oxide synthase–containing neurons in the hippocampal formation in Alzheimer's disease
Authors: Hyman Bradley T. , Marzloff Kristin , Wenniger Julia J. , Dawson Ted M. , Bredt David S. , Snyder Solomon H. 
Published: January 2005

AbstractNitric oxide (NO) is an endogenous neuromodulator that may mediate neurotoxic effects of glutamate. NO‐synthesizing neurons are, however, resistant to NO‐ and glutamate‐induced neurotoxicity. We now show that NO synthase neurons are selectively spared in patients with Alzheimer's disease, even in a severely affected region of the brain such as the hippocampal formation.
Expression of 65‐kd heat shock proteins in the inflammatory myopathies
Authors: Hohlfeld Reinhard , Engel Andrew G. 
Published: January 2005

AbstractIn normal muscle, 65‐kd heat shock proteins (hsp) were detected on capillary endothelial cells, the mural elements of larger vessels, and some intracellular organelles, probably mitochondria. In the inflammatory myopathies, the 65‐kd hsp were detected on inflammatory cells, degenerating and regenerating fibers, and on many but not all nonnecrotic muscle fibers invaded by T cells. The expression of the 65‐kd hsp may be an immunenonspecific response to cellular “stress” but hsp determinants could possibly also serve as autoantigen(s) recognized by autoreactive T cells.
Familial rectal pain: A type of reflex epilepsy?
Authors: Schubert Romaine , Cracco Joan B. 
Published: January 2005

AbstractWe studied 2 members of a family suffering from paroxysmal attacks elicited by tactile stimuli. The attacks consist of burning pain of the stimulated body part, followed by either complete collapse or tonic posturing. Noxious stimuli provoke episodes regardless of their somatic location, whereas it is only necessary for nonnoxious stimuli to be applied to specific trigger zones, such as the rectum, to provoke attacks. Episodes are most commonly precipitated by bowel movement, leading to extreme fear of defecation and resultant fecal retention. An ictal electroencephalographic video recording revealed only slowing of the background; however, serum prolactin was significantly elevated postictally. The attacks were completely suppressed by carbamazepine and resumed on discontinuing the medication. These attacks may represent a form of reflex epilepsy manifested by autonomic nervous system dysfunction.
3‐Methylglutaconic aciduria in “optic atrophy plus”
Authors: Costeff Hanan , Elpeleg Orly , Apter Naomi , Divry Priscille , Gadoth Natan 
Published: January 2005

AbstractBehr's syndrome consists of recessively inherited infantile optic atrophy, together with chronic neurological disturbances such as ataxia, extrapyramidal dysfunction, and juvenile spastic paresis. This syndrome was found to be relatively common among Iraqi Jews. For our study, 18 such patients underwent metabolic study. All 18 showed abnormally elevated excretion of 3‐methylglutaconic acid in their urine. The basic enzymatic defect is as yet unknown. We recommend that patients with early optic atrophy, and especially those with motor dysfunction, be examined for this organic aciduria.
Magnetic resonance imaging measurements and clinical changes accompanying transtentorial and foramen magnum brain herniation
Authors: Reich Jeffrey B. , Sierra John , Camp Walter , Zanzonico Patrick , Deck Michael D. F. , Plum Fred 
Published: January 2005

AbstractCurrent Concept of brain herniaton have depended largely on correlating clinical sings and symptoms with indirect radiographic studies and the results of postmortem neuropathology. This article describes measurments on midsagittal magnetic resonance imaging (MRI) scans that distinctly define normal and abnormal rostral–caudal relationships between the diencephalic–mesencephalic junction and the plane of the tentorial incisura, herein termed the incisural line. We similarly provide quantitative MRI scan measurments relating the cerebellum and the plane of the foramen magnum, termed the foramen magnum line. Measurements from 156 midsagittal and 63 coronal MRI scans performed on 123 normal adults, placed the iter of the aqueduct 0.2 ± 0.8 mm (mean ± SD) below the incisural line and the cerebeller tonsils 0.1 ± 2.1 mm below the foramen magnum line. Defining 2 SD from thses norms as abnormal, 23 patients with intracranial mass or obstructive lesions showed 4 distinct patterns of brain herniation, i.e., upward or downward transtentorial shift with of without accompanying cerebellar tonsillar herination. Five patients with Posterior fossa masses demonstrated displacement of the iter above the incisura ranging from 1.6 to 6.3 mm. Eighteen patients with supratentorial masses demonstrated displacements of the iter ranging from 2.0 to 11.0 mm below the incisura. Two‐third of patients with upward and one‐half of those with downward transtentorial shift had concurrent tonsillar herination. In acute illnesses, MRI scan changes anticipated or confirmed clinical signs of brain herniation. In chronic cases, clinical and MRI scans correlated less well, with MRI sometimes revealing major degrees of anatomical herniation well in advance of clinical abnormalities.
The influence of muscular lengthening on cramps
Authors: Bertolasi L. , De Grandis D. , Bongiovanni L. G. , Zanette G. P. , Gasperini M. 
Published: January 2005

AbstractMuscle cramps induced by voluntary contraction and by electrical stimulation of the peripheral nerve were studied electrophysiologically in 10 healthy subjects. The aim was to verify that cramps can be evoked by electrical stimulation of peripheral nerve and to clarify the physiological mechanism responsible by analyzing the effect of muscular stretching on cramps. Our results showed: (1) Cramps can be induced even after peripheral nerve block by electrical stimulation distal to the block. (2) No cramps were recorded during or following maximal voluntary contraction without muscular shortening, while 7 of 10 subjects showed a true cramp following maximal effort with shortening of the muscle. (3) Muscle stretching caused a sudden interruption of cramps induced by either voluntary contracion or electrical stimulation of the peripheral nerve, even after the induction of nerve block. (4) The lengthening state of the muscle can strongly influence the possibility of evoking cramps by electrical stimulation of nerve. Our study verifies the experimental model proposed by Lambert in 1969, emphasizing the relevance of frequency of stimulation and confirming the hyposthesis that cramps are of peripheral origin. The effects of muscle stretch and lengthening on cramp interruption and development also have a peripheral mechanism.
Synapse loss in the temporal lobe in Alzheimer's disease
Authors: Scheff Scheff W. , Price Douglas A. 
Published: January 2005

AbstractThe temporal lobe is a well‐documented area showing neuropathological and neurochemical changes in Alzheimer's disease (AD). Autopsy tissue was obtained from the superior temporal (Brodmann area 22) and the middle temporal (Brodmann area 21) regions of the cortex from patients with AD (n = 10; postmortem time < 13 hr) and age‐matched control subjects (n = 10; postmortem time < 13 hr). Ultrastructural examination of the tissue revealed a highly significant AD‐related decline in synaptic numbers in lamina III abd V in both the superior and the middle temporal gyrus. Both normal control and AD tissue samples demonstrated a significant negative correlation between the number of synapses and the synapse size, as indexed by the length of the postsynaptic density. This change in synaptic size appears to compensate for the loss of synaptic numbers when viewed in terms of total synaptic contact area. Although the AD tissue showed an average 30% decline in synaptic numbers, the total synaptic contact area remained largely unchanged in both regions of the cortex. There were no significant correlations with age, postmortem time, or number of plaques observed in these areas. The loss of synaptic contacts in AD does not appear to be isolated to a particular cortical region or lamina.
Campylobacter jejuni strains from patients with guillain‐barré syndrome belong mostly to penner serogrpup 19 and contain β‐N‐acetylglucosamine residues
Authors: Kuroki Shigekazu , Saida Takahiko , Nukina Massafumi , Haruta Tsunekazu , Yoshioka Mieko , Kobayashi Yutaka , Nakanishi Hisao 
Published: January 2005

AbstractCampylobactor jejuni was isolacted from stool cultures from 14(30%) of 46 partients with Guillain‐Barré syndrome and from 6(1.2%) of healthy persons, and the difference was highly significant (P<0.0001). In addition, serological evidence of recent. C. Jejuni infection. Ten of 12(83%) isolated from partients with Guillain‐Barré syndrome belonged to Penner serogroup 19, which is a rare serogroup in sporadic patients with C. Jejuni enterties. In the lection typing stude, all serogroup 19 strains from patients with Guillain‐Barré syndrome patients with Guillain‐Barré syndrome were shown to contain terminal b̃‐N‐acetylglucosamine residues on their cell surface, bur serogroup 19 strains from patients with enteritis were not.
Retinal ganglion cells in Alzheimer's disease and aging
Authors: Curcio Christine A. , Drucker David N. 
Published: January 2005

AbstractOptic nerve and retinal gangliion cell (GC) degeneration are possible explanations for the poor visul function reported in patients with Alzheimer's disease (AD). We investigated whether GC loss could be attributed to AD compared with control subjects by measuring the spatial density of GC(vells/mm2) with methods previously used to analyze the GC distribution of young normal retinas. Retinas from 4 autopsy‐confirmed, severely demented partients with AD and 4 age and sex‐matched control subjects (ages, 66‐86 yr for both groups) withould history of dementing or ocular disease were prepared as unstained whold mounts. Therer was no evidence for loss of GC within the central 43 degrees of vision in patients with AD. The densityof GC subserving the central 11 degrees of vision was reduced by one‐fourth in both AD and control eyes compared with retinas from young adults, as was GC density in a wedge of nasal retina. This loss may contribute to deficits in visual function found in aged individuals, whether or not they have dementia.
Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis
Authors: Ptacek Louis J. , Gouw Launce , Kwieciński Hubert , McManis Philip , Mendell Jerry R. , Barohn Richard J. , George Aflfred L. , Barchi Rebert L. , Robertson Margaret , Leppert Mark F. 
Published: January 2005

AbstractClinical and electrophysiological data have outlined a spectrum of similar yet distinct periodic paralyses, including potassium‐sensitive (hyperkalemic periodic paralysis [HYPP]) and temperature‐sensitive (paramyotonia congenita [PC]) forms. Recent work has revealed that these disorders result from allelic defects in the x‐subunit of the adult, human skeletal muscle sodium channel. We report an additional mutation, a leucine ‐ arginine substirution in the ss segment of domain 4 (L1433R), that results in the PC phenotype. Five other HYPP and PC families have been ascertained, and previously reported sodium channel mutations have been identified in each. Characterization of these mutartions and phenotypic variations in such familes will contribute to the understanding of sodium channel structure and function relationships, as well as channel malfunction in the periodic paralyses.