bluuebunny/crossref_metadata_2025 huggingface dataset:
Normal pressure hydrocephalus associated with cauda equina neurinoma
Authors: Ohta Kouichi , Gotoh Fumio , Amano Takahiro , Obara Katsuyuki
Published: January 2005

A 65‐year‐old woman with normal pressure hydrocephalus experienced improved gait and hydrocephalus following surgical resection of a cauda equina neurinoma. Fibrinogen, detected in the cerebrospinal fluid, may be involved in the pathophysiological process of normal pressure hydrocephalus.
Peduncular hallucinosis associated with isolated infarction of the substantia nigra pars reticulata
Authors: McKee A. C. , Levine D. N. , Kowall N. W. , Richardson E. P.
Published: January 2005

We report the clinicopathological study of an 83‐year‐old man who abruptly developed complex visual hallucinations, disordered sleep, and mild cognitive impairment that persisted until his death 6 months later. Postmortem neuropathological examination including serial sections through the diencephalon, midbrain, and pons disclosed isolated bilateral infarcts confined to the medial substantia nigra pars reticulata. The findings suggest that destruction of the pars reticulata may be the essential feature to the development of peduncular hallucinosis.
Polyclonal IgM anti‐GM1 ganglioside antibody in patients with motor neuron disease and variants
Authors: Salazar‐Grueso Edgar F. , Routbort Mark J. , Martin Jay , Dawson Glyn , Roos Raymond P.
Published: January 2005

Recent studies reported the presence of anti‐ganglioside antibodies in occasional patients with motor neuron disease. We found polyclonal serum IgM anti‐GM1 antibodies by an anti‐GM1 enzyme‐linked immunosorbent assay (ELISA) in 9 (19%) of 48 patients with motor neuron disease. A comparable frequency of IgM anti‐GM1 antibodies was found in 4 (10%) of 40 sera from patients with other neurological disease. Three (17%) of 18 sera from the patients with motor neuron disease and 2 (17%) of 12 sera from patients with other neurological diseases had anti‐GM1 immunostaining as shown by thin layer chromatography immunoblot. One patient with a lower motor neuron variant of motor neuron disease or motor axonopathy without multifocal conduction block had a markedly elevated polyclonal IgM anti‐GM1 ELISA titer (> 1:64,000) with prominent immunostaining of GM1, moderate immunostaining of GM2, and weak and inconsistent immunostaining of GD1b by thin layer chromatography immunoblot. Treatment with prednisone resulted in clinical improvement despite increasing anti‐GM1 antibody titers. These data indicate that patients with motor neuron disease have measurable levels of anti‐ganglioside antibodies as frequently as patients with other neurological diseases. This contrasts with a small subgroup of patients with a lower motor neuron variant of motor neuron disease or motor axonopathy who have markedly elevated levels of serum anti‐ganglioside antibodies and a clinical syndrome that is treatable with immunosuppression.
Prevalence of primary Sjögren's syndrome in patients with multiple sclerosis
Authors: Miró J. , Peña‐Sagredo J. L. , Berciano J. , Insúa S. , Leno C. , Velarde R.
Published: January 2005

Sixty‐four consecutive patients with clinically or laboratory‐supported definite multiple sclerosis (MS) were evaluated prospectively for evidence of primary Sjögren's syndrome (SS). This diagnosis was established when a patient had objective keratoconjunctivitis sicca, xerostomia, or both together with positive labial salivary gland biopsy. We found 2 patients (3.1%) with clinical evidence of primary SS. Whether this association is fortuitous or whether there is pathogenetic linkage between MS and primary SS remains to be established.
Glutamate dysfunction and selective motor neuron degeneration inamyotrophic lateral sclerosis: A hypothesis
Authors: Plaitakis Andreas
Published: January 2005

Recent studies provided evidence for a generalized defect in glutamate metabolism in patients with amyotrophic lateral sclerosis, associated with widespread alterations in the central nervous system levels of this excitatory amino acid putative transmitter. Present data support the hypothesis that altered presynaptic glutamatergic mechanisms may be responsible for a neuroexcitotoxic cell loss in this disorder. High local concentrations of glycine, released from glycinergic terminals, may disrupt adaptive processes contributing to abnormal potentiation of excitatory transmission mediated by glutamate receptors and resultant selective degeneration of motor neurons. These considerations offer new therapeutic strategies for amyotrophic lateral sclerosis.
The effect of mild hyperthermia and hypothermia on brain damage following 5, 10, and 15 minutes of forebrain ischemia
Authors: Minamisawa Hiroaki , Smith Maj‐Lis , Siesjö Bo K.
Published: January 2005

The present study examines the effects of mild hypothermia and hyperthermia on the density and distribution of ischemic brain damage, and compares these effects to those induced by variations in the duration of ischemia. Body temperatures were maintained at 35°C, 37°C, and 39°C before, during, and after ischemia, and brain temperatures were held at similar values with a technique that in preliminary experiments proved to avoid intracerebral temperature gradients or overheating of surface structures. In all animals, brain damage was assessed by histopathological analysis of perfusion‐fixed brains after six to seven days of recovery. Our results confirm previous findings showing that a decrease in temperature of only 2°C significantly reduces damage to several selectively vulnerable neuronal populations. The results also showed that an increase in temperature of 2°C significantly enhances brain damage. In general, a rise in temperature had effects similar to an increased duration of the ischemia. In some areas, such as the CA1‐subiculum sectors of the hippocampus, temperature and ischemic duration altered damage in a gradual manner, but in others, such as the caudoputamen, there was a steplike change from virtually no to virtually complete damage. In some areas, the effects of hypothermia and hyperthermia appeared symmetrical around the normal temperature of 37°C. Hyperthermia had some seemingly “specific” effects, however, notably the tendency to induce pannecrosis (“infarction”) in the neocortex and caudoputamen, and to cause damage to the substantia nigra pars reticulata. The results underscore the potentially devastating effects of fever in patients with cerebrovascular disease.
A computer simulation of conduction block: Effects produced by actual block versus interphase cancellation
Authors: Rhee Edward K. , England John D. , Sumner Austin J.
Published: January 2005

A reduction in compound muscle action potential (CMAP) amplitude and area following proximal versus distal stimulation is the accepted clinical hallmark of conduction block; however, quantitative criteria for determining conduction block remain ambiguous. In this study, digitized records of individual motor unit action potentials (MUAPs) elicited by incremental stimulation in vivo were arithmetically combined in a computer simulation of CMAP generation. Through simulation of possible phase interaction patterns of individual MUAPs, we have shown that abnormal temporal dispersion alone can produce reductions in CMAP area of up to 50%, values that are commonly thought to represent conduction block. Furthermore, by simulating conduction block without excessive temporal dispersion in defined subpopulations of axons, we have demonstrated the importance of the fastest conducting (largest MUAP) axons in determining CMAP amplitude and area. In conclusion, measurements of CMAP amplitude and area in determining conduction block may be misleading if there is significant abnormal temporal dispersion, and quantitation of the degree of conduction block is difficult without knowledge of which subpopulations of axons are affected.
Galanin immunoreactivity is increased in the nucleus basalis of meynert in Alzheimer's disease
Authors: Beal M. Flint , MacGarvey Usha , Swartz Kenton J.
Published: January 2005

A depletion of large cholinergic neurons in the nucleus basalis of Meynert is a consistent finding in Alzheimer's disease (AD). The nucleus basalis of Meynert also contains interneurons and afferents that may modulate its functioning. In the present study we examined neurochemical markers for neuropeptides, amino acid neurotransmitters, and monoaminergic neurotransmitters in postmortem samples of the nucleus basalis in 16 control subjects and 30 patients with AD. There were no significant changes in glutamate, aspartate, taurine, gamma‐aminobutyric acid (GABA), and catecholamines; however, concentrations of serotonin, 5‐hydroxyindoleacetic acid, and 5‐hydroxytryptophol were significantly reduced. Choline acetyltransferase activity was significantly reduced, consistent with previous reports. Galanin immunoreactivity was significantly increased twofold in the patients with AD, but there were no significant changes in substance P, somatostatin, or neuropeptide Y immunoreactivity. Since galanin inhibits acetylcholine release, and produces cognitive deficits in animals, increased galanin immunoreactivity in the nucleus basalis of Meynert in AD may contribute to the cognitive deficits that characterize the illness.
Methods for estimating the number of motor units in human muscles
Authors: Stein Richard B. , Yang Jaynie F.
Published: January 2005

The number of motor units in the thenar muscle group was calculated by dividing the surface electromyogram and twitch force, in maximal stimulation of the median nerve, by estimates of the average electromyogram and twitch force from single units. The following three techniques were used to estimate the average electromyogram from single units: spike‐triggered averaging from units recorded with a needle electrode, intramuscular microstimulation of motor nerve branches, and graded whole nerve stimulation at the wrist. The first two techniques also provided independent estimates of motor unit numbers based on the average force generated by single units. The five estimates (three based on the electromyogram and two on force) ranged from 116 to 170 motor units in the thenar group. Correcting for cancellation when unit responses sum to form the compound action potential or twitch increased the estimated number of units, which ranged from 130 to 179. The estimates were not statistically different from one another but were substantially lower than some previous electrophysiological estimates based on graded whole nerve stimulation. The recruitment pattern of single units during whole nerve stimulation was recorded and simulated mathematically. The most likely reason for the higher estimates in previous studies using graded whole nerve stimulation is shown to be alternation of motor units. Potential errors in all the techniques are discussed and compared.
Motor unit numbers and contractile properties after spinal cord injury
Authors: Yang Jaynie F. , Stein Richard B. , Jhamandas Jack , Gordon Tessa
Published: January 2005

The number of motor units in the thenar muscle group was estimated in 11 patients with cervical spinal cord injuries. The surface electromyogram and twitch force, in response to maximal stimulation of the median nerve was divided by the average surface electromyogram and twitch of single units. The average single unit size was obtained by intramuscular microstimulation of motor nerve branches and by graded whole nerve stimulation, which provided three independent estimates, two based on the electromyogram and one based on force. The motor unit estimates from the patients covered a wide range, some had essentially normal motor units both in numbers and contracatile properties, while others had varying reductions in numbers of units. Those patients who showed a large reduction in motor unit numbers also had greatly enlarged units, which produced an average of up to sixfold the normal force. These enlarged units summed to produce maximal compound action potentials and twitches that were sometimes indistinguishable from normal. Magnetic resonance imaging scans of the cervical spine obtained from some patients provided independent evidence that patients with low motor unit counts had sustained direct injury to the anterior aspect of the spinal cord at the relevant segmental levels. Some patients showed a normal number of motor units long after the injury. No evidence of transneuronal degeneration could be demonstrated in the thenar group in these patients with the current techniques.
Failure of nine‐month phenobarbital administration to reverse amygdaloid‐kindled seizure susceptibility in cats
Authors: Hiyoshi Toshio , Wada Juhn A.
Published: January 2005

Upon completion of left amygdaloid kindling, 4 cats underwent long‐term phenobarbital administration during the subsequent 5‐ to 9‐month rest period. Plasma phenobarbital levels were maintained above 15 to 20 μg/ml and were restimulated following plasma phenobarbital washout. Three cats served as nonmedicated controls. All 7 cats were subjected to repeated 6‐hour sleep monitoring for observation of interictal discharges, which were observed most often in the immediate postictal period. Their frequency decreased gradually throughout the experiment in both the medicated and control animals, but they never completely disappeared except from the contralateral amygdala in 1 medicated animal. Upon primary site restimulation, all of the medicated animals responded with a generalized convulsion once the afterdischarge was induced. When these animals underwent secondary‐site amygdaloid kindling, 3 showed a positive transfer effect. The findings suggest that although phenobarbital is a potent anticonvulsant, it has little effect on the acquired seizure susceptibility of previously amygdaloid kindled cats.
A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease
Authors: Grafton Scott T. , Mazziotta John C. , Pahl Jorg J. , George‐Hyslop Peter St. , Haines Jonathan L. , Gusella James , Hoffman John M. , Baxter Lewis R. , Phelps Michael E.
Published: January 2005

We compared four diagnostic data sets for the assessment of individuals at risk for Huntington's disease. Fifty‐four chorea‐free persons were evaluated by neurological examination, positron emission tomography measurement of glucose metabolism, radiographic computerized tomographic measurement of caudate size, and genetic testing at the polymorphic DNA loci D4S10, D4S43, and D4S125. Twelve (22%) persons had abnormal caudate metabolism, 6(11%) had subtle abnormalities of motor control, and 7(13%) had computed tomographic evidence of caudate atrophy, compared with an expected gene frequency of 34% for this population. In 20 persons with unambiguous genetic test results or the subsequent phenotypic expression of Huntington's disease (chorea), there was a greater sensitivity of the positron emission tomographic measurement of caudate metabolism (75%) relative to computed tomography (33%) or the clinical examination (17%) for the determination of a subpopulation of probable Huntington's disease gene carriers. Hypometabolism of the putamen and globus pallidus, and hypermetabolism of the precentral gyrus were also associated with a high probability of carrying the Huntington's disease gene. The findings support the hypothesis that abnormalities of cerebral metabolism precede clinical or structural (computed tomographic) abnormalities in gene‐postive individuals at risk for Huntington's disease.
Impairment of sequences of memory‐guided saccades after supplementary motor area lesions
Authors: Gaymard B. , Pierrot‐Deseilligny Ch. , Rivaud S.
Published: January 2005

Different paradigms of saccades were recorded electro‐oculographically in 2 patients with infraction affecting the left supplementary motor area. Saccades made toward visual targets (visually‐guided saccades) or away from them (antisaccades) were normal in both patients. Memory‐guided saccades, made to the remembered position of a flash occurring 2 seconds before, were preserved in 1 patient and only slightly impaired in the other. However, sequences of two or three memory‐guided saccades were severely impaired in both patients. It has previously been reported that the supplementary motor area plays an important role in programming sequential limb movements. Our data suggest that this area plays a similar role in the control of sequential eye movements.
Guanidino compounds that are increased in cerebrospinal fluid and brain of uremic patients inhibit GABA and glycine responses on mouse neurons in cell culture
Authors: De Deyn Peter P. , Macdonald Robert L.
Published: January 2005

Four guanidino compounds that have been found to be markedly increased in cerebrospinal fluid and brain tissue of uremic patients, namely, guanidine, methylguanidine, creatinine, and guanidinosuccinic acid, were applied to mouse spinal cord neurons in primary dissociated cell culture to evaluate their effects on postsynaptic responses to gammaaminobutyric acid (GABA) and glycine. Intracellular microelectrode recording techniques were used. Guanidine, methylguanidine, creatinine, and guanidinosuccinic acid reversibly and in a dose‐dependent manner inhibited both GABA and glycine responses. Guanidinosuccinic acid was the most potent inhibitor of the amino acid responses, followed in decreasing potency by methylguanidine, guanidine, and creatinine. Guanidinosuccinic acid inhibited responses to GABA and glycine, at concentrations similar to those found in cerebrospinal fluid and brain tissue of patients with terminal renal insufficiency. The other guanidino compounds tested exerted their effects only at concentrations higher than those found in uremic biological fluids and tissues. The inhibitory effect of guanidine and methylguanidine on responses to GABA was additive. The effect of the guanidino compounds on GABA responses was not antagonized by coapplication of the benzodiazepine‐receptor antagonist CGS 9896. The results suggest that guanidine, methylguanidine, creatinine, and guanidinosuccinic acid inhibited responses to the inhibitory neurotransmitters GABA and glycine by blocking the chloride channel. The observed action of the studied guanidino compounds might contribute to the pathogenesis of the complex neurological symptomatology encountered in uremia.
Eyelid movements before and after botulinum therapy in patients with lid spasm
Authors: Manning Karen A. , Evinger Craig , Sibony Patrick A.
Published: January 2005

Quantitative analysis of lid motility is presented for 4 individuals with hemifacial spasm and 1 with Meige's syndrome. The data were obtained, by means of a magnetic search coil technique, prior to and 1 week after injection of botulinum toxin into the orbicularis oculi muscle. Before treatment, the peak velocity of blink‐related lid lowering and lid raising was slower than normal, yet lid saccades were normal. After botulinum treatment, significant decreases occurred in (1) the amplitude of blinks and lid saccades, and (2) the peak velocity of the blink down‐phase. Botulinum treatment significantly alters blink lid‐lowering kinematics, while saccadic lid‐lowering kinematics are normal, providing further evidence that the orbicularis oculi muscle does not play a primary role in downward lid saccades.
Magnetic motor‐evoked potentials in epilepsy: Effects of the disease and of anticonvulsant medication
Authors: Hufnagel Andreas , Elger Christian E. , Marx Werner , Ising Anton
Published: January 2005

Magnetic motor‐evoked potentials were recorded in 53 patients with medically intractable, mainly temporal lobe epilepsy and compared with potentials of 110 healthy volunteers. The motor‐evoked potentials were reevaluated in 16 of the 53 patients after substantial reduction of antiepileptic drug doses. The objective was to assess the effect of epilepsy and of anticonvulsant medication on the central motor system. In subjects receiving antiepileptic treatment, cortical threshold intensities were markedly elevated and peripheral latencies were prolonged. Cortical threshold intensities and peripheral latencies decreased to approach control values after anticonvulsant medication was reduced but were increased in patients treated with 2 or 3 anticonvulsant agents instead of 1. Additionally, high levels of interictal epileptiform activity and a high frequency of seizures significantly decreased the central motor conduction time and, in part, threshold intensities. The central motor conduction time was further diminished after reduction of anticonvulsant treatment and increased when several drugs were administered. The duration of epilepsy, the location of the epileptic focus, and the type of the epileptic seizure did not affect motor‐evoked potentials. Conclusively, central motor pathways are endogenously facilitated by epileptiform activity even if clinical signs of their involvement are absent. Anticonvulsant medication exerts major reversible effects on magnetic motor‐evoked potentials.
MEG versus EEG localization test using implanted sources in the human brain
Authors: Cohen David , Cuffin B. Neil , Yunokuchi Kazutomo , Maniewski Roman , Purcell Christopher , Cosgrove G. Rees , Ives John , Kennedy John G. , Schomer Donald L.
Published: January 2005

It is believed that the magnetoencephalogram (MEG) localizes an electrical source in the brain to within several millimeters and is therefore more accurate than electroencephalogram (EEG) localization, reported as 20 mm. To test this belief, the localization accuracy of the MEG and EEG were directly compared. The signal source was a dipole at a known location in the brain; this was made by passing a weak current pulse simulating a neural signal through depth electrodes already implanted in patients for seizure monitoring. First, MEGs and EEGs from this dipole were measured at 16 places on the head. Then, computations were performed on the MEG and EEG data separately to determine the apparent MEG and EEG source locations. Finally, these were compared with the actual source location to determine the MEG and EEG localization errors. Measurements were made of four dipoles in each of three patients. After MEGs with weak signals were discounted, the MEG average error of localization was found to be 8 mm, which was worse than expected. The average EEG error was 10 mm, which was better than expected. These results suggest that the MEG offers no significant advantage over the EEG in localizing a focal source. However, this does not diminish other uses of the MEG.
Cytomegalovirus neuropathy in acquired immunodeficiency syndrome: A clinical and pathological study
Authors: Said G. , Lacroix C. , Chemouilli P. , Goulon‐Goeau C. , Roullet E. , Penaud D. , De Broucker T. , Meduri G. , Vincent D. , Torchet M. , Vittcoq D. , Leport C. , Vildé J. L.
Published: January 2005

We have observed typical cytomegalovirus cytopathology associated with multifocal inflammatory and necrotic lesions of peripheral nerve in biopsy specimens from 4 patients who developed a rapidly progressive, multifocal neuropathy late in the course of human immunodeficiency virus infection. The inflammatory infiltrates, which contained numerous polymorphonuclear cells, were associated with mixed, axonal, and demyelinative lesions of nerve fibers. One of these patients improved on treatment with DHPG (9‐[2‐hydroxy‐1(hydroxymethyl) ethoxymethyl] guanine) and remains stable after 18 months. The other 3 died soon after the onset of the neuropathy. In another patient with acquired immunodeficiency syndrome, who developed a severe, predominantly motor neuropathy of the lower limbs, the nerve biopsy did not reveal cytomegalovirus inclusions, but the neurological deficit improved on treatment with DHPG. The patient died from cachexia 2 months later; numerous cytomegalovirus lesions were found in the spinal cord at the time of postmortem examination. The multifocal necrotic endoneurial nerve lesions with polymorphonuclear cell infiltration we describe may help identify cytomegalovirus neuropathy when characteristic inclusions are not present in the biopsy specimen.
Quinolinic acid in cerebrospinal fluid and serum in HIV‐1 Infection: Relationship to clinical and neurological status
Authors: Heyes Melvyn P. , Brew Bruce J. , Martin Alex , Price Richard W. , Salazar Andres M. , Sidtis John J. , Yergey James A. , Mouradian M. Maral , Sadler Abigail E. , Keilp John , Rubinow David , Markey Sanford P.
Published: January 2005

Quinolinic acid is an “excitotoxic” metabolite and an agonist of N‐methyl‐D‐aspartate receptors. Of patients infected with human immunodeficiency virus type 1 (HIV‐1) who were neurologically normal or exhibited only equivocal and subclinical signs of the acquired immunodeficiency syndrome (AIDS) dementia complex, concentrations of quinolinic acid in cerebrospinal fluid (CSF) were increased twofold in patients in the early stages of disease (Walter Reed stages 1 and 2) and averaged 3.8 times above normal in later‐stage patients (Walter Reed stages 4 through 6). However, in patients with either clinically overt AIDS dementia complex, aseptic meningitis, opportunistic infections, or neoplasms, CSF levels were elevated over 20‐fold and generally paralleled the severity of cognitive and motor dysfunction. CSF concentrations of quinolinic acid were significantly correlated to the severity of the neuropsychological deficits. After treatment of AIDS dementia complex with zidovudine and treatment of the opportunistic infections with specific antimicrobial therapies, CSF levels of quinolinic acid decreased in parallel with clinical neurological improvement. By analysis of the relationship between levels of quinolinic acid in the CSF and serum and integrity of the blood‐brain barrier, as measured by the CSF: serum albumin ratio, it appears that CSF levels of quinolinic acid may be derived predominantly from intracerebral sources and perhaps from the serum. While quinolinic acid may be another “marker” of host‐ and virus‐mediated events in the brain, the established excitotoxic effects of quinolinic acid and the magnitude of the increases in CSF levels of the acid raise the possibility that quinolinic acid plays a direct role in the pathogenesis of brain dysfunction associated with HIV‐1 infection.
Myoclonus in adult Huntington's disease
Authors: Vogel Caryn M. , Drury Ivo , Terry L. Cass , Young Anne B.
Published: January 2005

Two brothers with clinically definite adult Huntington's disease developed disabling myoclonus years after the first signs of the disease. Their electroencephalograms were consistent with a primary generalized epilipsy, although neither man had seizures. The myoclonus was controlled with valproic acid therapy.
Early loss of astrocytes in herpes simplex virus–induced central nervous system demyelination
Authors: Itoyama Yasuto , Sekizawa Tsuyoshi , Openshaw Harry , Kogure Kyuya , Goto Ikuo
Published: January 2005

Immunohistochemistry was used to study herpes simplex virus type 1–induced central nervous system demyelination in the trigminal root entry zone of mice inoculated with herpes simplex virus type 1 by the corneal route. There was no change in peripheral nervous system myelin as shown by immunostaining for Po glycoprotein. Double immunoperoxidase staining for herpes simplex virus type 1 antigens and glial fibrillary acidic protein showed that most of the infected cells were astrocytes. Glial fibrillary acidic protein immunostaining was completely lost in the inferior medial portion of the trigeminal root entry zone at 6 days after herpes simplex virus type 1 inoculation, a time when central nervous system myelin was preserved as indicated by immunostaining for myelin basic protein. The pattern of glial fibrillary acidic protein staining did not change and herpes simplex virus type 1 antigens were no longer detected after day 8. There was a progressive loss of myelin basic protein staining within the area unstained by glial fibrillary acidic protein antisera on days 8 to 14. This pattern of astrocyte loss before central nervous system demyelination is strikingly different from the reactive astrocytosis seen in other demyelinating lesions, such as acute experimental allergic encephalomyelitis, progressive multifocal leukoencephalopathy, or acute multiple sclerosis. Herpes simplex virus type 1 infection in mice provides an unusual model of acute central nervous system demyelination preceded by a loss of astrocytes.
In vitro demyelination by serum antibody from patients with guillain‐barré syndrome requires terminal complement complexes
Authors: Sawant‐Mane S. , Clark M. B. , Koski C. L.
Published: January 2005

Serum from 7 patients who had acute‐phase Guillain‐Barré syndrome with high anti‐peripheral nerve myelin antibody activity (54 to 210 units/ml) was compared with serum from 3 patients in the recovery phase (0 to 17 units/ml) and serum from 7 disease control subjects (0 to 24 units/ml) and 7 normal control subjects (0 to 7 units/ml) for its ability to demyelinate rodent dorsal root ganglion cultures. The demyelinating capacity of each serum was quantitated by counting the percent of damaged internodal segments in each of four cultures. All sera from patients in the acute phase GBS caused 50 to 78% demyelination, in contrast with 6 to 19% by the sera from all 3 patients in the recovery phase and all other control subjects. The degree of demyelination correlated with anti‐peripheral nerve myelin antibody activity of the sera and demyelination was complement‐dependent. Further, cultures were treated with an immunoglobulin M (IgM) fraction of an acute‐phase Guillain‐Barré syndrome plasma plus normal human serum depleted of complement component C7. Only those cultures treated with IgM and C7‐depleted human serum reconstituted with purified C7 resulted in 50.8% demyelination, which was significantly greater than the 14.2 to 16.2% demyelination observed in the presence of heat‐inactivated, C7‐depleted human serum plus purified C7 or in the absence of C7 or antibody. In summary, our work suggests that anti‐peripheral nerve myelin antibody in Guillain‐Barré syndrome mediated complement dependent‐demyelination of rodent dorsal root ganglion cultures. Further, this in vitro demyelination required generation of activation complexes of the terminal complement cascade.
Intracerebral hemorrhage: External validation and extension of a model for prediction of 30‐day survival
Authors: Tuhrim Stanley , Dambrosia James M. , Price Thomas R. , Mohr Jay P. , Wolf Philip A. , Hier Daniel B. , Kase Carlos S.
Published: January 2005

We report validation of a previously reported logistic regression model for predicting 30‐day survival after supratentorial intracerebral hemorrhage using independent, propectively collected data. The original model, using initial Glasgow Coma Scale score, hemorrhage size, and pulse pressure, accounted for mortality or survival at 30 days in 92% of patients in the Pilot Stroke Data Bank with a sensitivity of 0.84 and a specificity of 0.96. For external validation, the model was used to predict 30‐day status for each patient in the Main Phase Stroke Data Bank for whom complete risk factor information was available. Overall, 90% of patients' outcomes were correctly predicted with a sensitivity of 0.85 and a specificity of 0.92. Two factors not collected in the pilot Stroke Data Bank, hyperglycemia and intraventricular hemorrhage extension, were assessed to determine if they provided additional predictive information on 30‐day mortality. Intraventricular hemorrhage extension contributed significant predictive information in a logistic regression, whereas hyperglycemia did not. The resulting four‐factor model with an interaction term (intraventricular hemorrhage extension and Glasgow Coma Scale score) correctly classified the survival status of 94% of patients at 30 days. A more general outcome, death or failure to achieve a “good” Activities o Daily Living Score by one year, was analyzed with respect to the same four factors. The resulting model correctly classified 95% of the patients in the cohort.
Chorea‐acanthocytosis: Abnormal composition of covalently bound fatty acids of erythrocyte membrane proteins
Authors: Sakai Tetsuo , Antoku Yasunobu , Iwashita Hiroshi , Goto Ikuo , Nagamatsu Keiji , Shii Hiroaki
Published: January 2005

Phospholipid class, peak profile of each phospholipid class, loosely bound fatty acids, covalently (tightly) bound fatty acids of the erythrocyte membrances, and plasma fatty acids were investigated using high‐performance liquid chromatography in six patients with chorea‐acanthocytosis and 14 age‐ and sex‐matched normal control subjects. Additionally, six patients with Huntington's disease were included as disease control subjects in the study of covalently bound fatty acids. Study of covalently (tightly) bound fatty acids in erythrocyte membrane proteins after alkaline hydrolysis, hitherto undescribed in chorea‐acanthocytosis, revealed that palmitic acid (C16:0) was significantly increased and stearic acid (C18:0) was decreased in the patients with chorea‐acanthocytosis. Analyses for total covalently bound fatty acids disclosed that palmitic and docosahexaenoic (C22:6) acids were increased and stearic acid was decreased in chorea‐acanthocytosis. Phospholipid class(phosphatidylcholine, phosphatidylethanolamine, sphingomyelin, and phosphatidylserine) and peak profile of each phospholipid class from the erythrocyte membranes did not differ between the patients with chorea‐acanthocytosis and the control subjects. Of the loosely bound fatty acids, linoleic acid (C18:2) was significantly decreased in those with chorea‐acanthocytosis, which seemed to be nonspecific.
Neuropathy associated with monoclonal gammopathies of undetermined significance
Authors: Gosselin Sylvie , Kyle Robert A. , Dyck Peter James
Published: January 2005

Monoclonal proteins (IgM, IgG, and IgA) in the serum or urine of patients with neuropathy may provide a marker for amyloidosis, myeloma, lymphoma, leukemia, Waldenström's macroglobulinemia, or monoclonal gammopathy of undetermined significance (MGUS). The clinical characteristics, course, and electromyographic features among neuropathies associated with monoclonal IgM (IgM‐MGUS, 31 patients), monoclonal IgG (IgG‐MGUS, 24 patients), and monoclonal IgA (IgA‐MGUS, 10 patients) evaluated between 1980 and 1986 were compared. Four statistically significant differences set IgM‐MGUS neuropathies apart from IgG‐MGUS and IgA‐MGUS neuropathies: (1) higher frequency of sensory loss and ataxia, (2) higher frequency of nerve conduction abnormality—10 attributes were significantly worse (none were significantly better), (3) higher frequency of dispersion of the compound muscle action potential, and (4) higher frequency of IgM‐MGUS in the MGUS neuropathy cohort than is characteristic of MGUS without neuropathy seen at our institution or than is encountered in epidemiological surveys. These differences were not thought to be due to selection or severity biases. Neither the amount of IgM nor the estimated size of the monoclonal peak was associated with severity of neuropathy. The type and severity of IgM‐MGUS neuropathies with anti‐myelin‐associated glycoprotein antibodies were not significantly different from those without anti‐myelin‐associated glycoprotein antibodies. A simple relationship between the presence and amount of IgM‐MGUS or anti‐myelin‐associated glycoprotein antibodies and neuropathy cannot be assumed.
Adrenoleukodystrophy: A correlation between saturated very long‐chain fatty acids in mononuclear cells and phenotype
Authors: Antoku Yasunobu , Koike Fumihiko , Ohtsuka Yachiyo , Sakai Tetsuo , Tsukamoto Kohsuke , Nagara Hitoshi , Iwashita Hiroshi , Goto Ikuo
Published: January 2005

Saturated very long‐chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood‐adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high‐performance liquid chromatography. Ratios of C26:0 to C22:0 in mononuclear cells, erythrocyte membranes, and blood plasma in patients with childhood‐adolescent and adult adrenoleukodystrophy were significantly higher than in normal control subjects. Furthermore, ratios of C26:0 to C22:0 in mononuclear cells were significantly higher in patients with childhood‐adolescent adrenoleukodystrophy than in patients with adult adrenoleukodystrophy, whereas there was no significant difference in the ratios in erythrocyte membranes and blood plasma between the two groups of patients with adrenoleukodystrophy. These results suggest that there is a correlation between phenotype and ratio of C26:0 to C22:0 within mononuclear cells in patients with adrenoleukodystrophy.
The spectrum of lissencephaly: Report of ten patients analyzed by magnetic resonance imaging
Authors: Barkovich A. James , Koch Thomas K. , Carrol Clark L.
Published: January 2005

Clinical data and magnetic resonance imaging scans from 10 patients with lissencephaly were reviewed. Although 6 of the 10 patients were less than 1 year old at the time of their most recent examination, those who were old enough for developmental assessment were, with a single exception, severely developmentally delayed. All patients had anatomical features compatible with impaired neuronal migration but normal myelination and, consequently, adequate glial migration. The severity of the lissencephaly did not seem to correlate with the severity of the clinical manifestations. One patient showed less delayed development than anticipated, perhaps because the most severely involved region of the brain was the prefrontal area.
Single‐gene neurological disorders in south wales: An epidemiological study
Authors: MacMillan J. C. , Harper P. S.
Published: January 2005

Single‐gene neurological disorders account for a significant proportion of the work load of any regional genetics unit. In an attempt to assess the likely impact of recombinant DNA technology on these debilitating diseases, a population prevalence study of the major neurogenetic diseases was carried out in the South Wales region of Great Britain. The minimum overall prevalence of these disorders was estimated to be 58.6/100,000 population.
Predictive value of intraoperative electrocorticograms in resective epilepsy surgery
Authors: McBride M. C. , Binnie C. D. , Janota I. , Polkey C. E.
Published: January 2005

The preresection and postresection intraoperative electrocorticograms of 76 consecutive patients undergoing resective surgery for intractable epilepsy were analyzed to see if location, configuration, and discharge rate of epileptiform activity correlated with type and location of pathology of the resected specimens and outcome in regard to seizure control. The location of the predominant spike focus did not correlate with either type or location of pathology or with seizure outcome from temporal lobe surgery (n = 58). The presence of spontaneous or activated spikes outside the resected area did not correlate with outcome from any surgery type. Positive spikes recorded from the amygdala and anterior hippocampus (n = 37) were not associated with type or location of pathology, but bursts of fast repetitive spikes on these needle recordings tended to associate with mesiotemporal pathology (p = < 0.02) and with mesial temporal sclerosis (p = < 0.04). A preresection spike discharge rate of 1 per 4 minutes or less was associated with a poor outcome in 5 of 6 patients (p = 0.03), whereas a rate of 18 or more per minute was associated with a good outcome in 15 of 18 patients (p < 0.06). Persistence of 50% or more of the preresection epileptiform activity in the postresection electrocorticogram after temporal lobectomy correlated with poor outcome in 80% (p = < 0.03), although the absolute amount of epileptiform activity remaining in the postresection electrocorticogram did not correlate with outcome. Further studies are needed to define the role of intraoperative electrocorticograms in resective epilepsy surgery.
Leber's hereditary optic neuropathy and complex I deficiency in muscle
Authors: Larsson Nils‐Göran , Andersen Oluf , Holme Elisabeth , Oldfors Anders , Wahlström Jan
Published: January 2005

We investigated a family with Leber's hereditary optic neuropathy in which affected individuals were homoplasmic for the point mutation of the NADH‐dehydrogenase 4 gene of mitochondrial DNA, described by Wallace and colleagues in 1988. The proband had bilateral optic atrophy, tremor, dystonia, and sharply defined lesions in the putamen on magnetic resonance images. Optic atrophy was found in another 3 of 13 investigated relatives on the maternal side. Additional neurological signs were found but only in patients with optic neuropathy. The morphological appearance and the respiratory chain function of muscle tissue were investigated in the proband, his mother, and 3 siblings. Polarographic measurements revealed complex I deficiency in the 5 investigated subjects. Morphological changes of mitochondria were found in 4 of these subjects. There was no decrease in complex I activity measured as NADH ferricyanide reductase or rotenone‐sensitive NADH cytochrome c reductase activities. In other cases with complex I deficiency, good agreement between polarographic and spectrophotometric measurements was found. This study showed that there is decreased activity of complex I of the respiratory chain in muscle and that cerebral striatal lesions occur in Leber's hereditary optic neuropathy with the NADH‐dehydrogenase 4 gene point mutation.
Medullary lesion inducing pulmonary edema: A magnetic resonance imaging study
Authors: Simon Roger P. , Gean‐Marton Alisa D. , Sander James E.
Published: January 2005

A 27‐year‐old woman with a recent diagnosis of multiple sclerosis developed several episodes of noncardiogenic pulmonary edema over a 3‐month period, each requiring intubation and ventilatory support. The development and subsequent resolution of an isolated lesion at the obex was correlated with the episodes. The literature regarding the anatomical basis of neurogenic pulmonary edema is reviewed.
Cyclic AMP metabolism in fragile X syndrome
Authors: Berry‐Kravis Elizabeth , Huttenlocher Peter R.
Published: January 2005

Cyclic AMP (cAMP) metabolism was studied in platelets from a series of 14 patients with fragile X syndrome (fra X) and 21 control individuals. 1‐Isobutyl‐3‐methylxanthine was used to inhibit phosphodiesterase and thus measure cAMP production, prostaglandin E1 was used to assess receptor‐mediated cAMP accumulation, and forskolin was used to directly stimulate the catalytic subunit. In patients with fra X, basal production was 63% of that of control subjects (p = 0.019). Prostaglandin E1– and forskalin‐stimulated production were 61% (p = 0.039) and 56% (p = 0.012) of that of control subjects, respectively. cAMP production in 8 patients with fra X overlapped the control range, whereas measures of production in 6 patients formed a cluster with values lower than any of the 21 control subjects assayed, suggesting possible biochemical heterogeneity within patients with fra X. Results obtained from the group of patients with fra X suggest possible abnormal function or regulation of the catalytic subunit of adenylate cyclase in at least a subgroup of patients with fra X. Variability of biochemical findings in patients with fra X may reflect the known high variability of the clinical syndrome.
Regenerating and denervated human muscle fibers and satellite cells express neural cell adhesion molecule recognized by monoclonal antibodies to natural killer cells
Authors: Illa Isabel , Leon‐Monzon Marta , Dalakas Marinos C.
Published: January 2005

The monoclonal antibodies anti–Leu‐19 and anti–NKH‐1 recognize the CD56 differentiation antigen expressed on natural killer (NK) cells and on a T‐cell subset. Because CD56 is an isoform of neural cell adhesion molecule (N‐CAM), we examined its expression on human muscle using antibodies to Leu‐19, NKH‐1, and purified N‐CAM in an immunohistochemical, immunoblot, and immunoprecipitation study on 70 muscle biopsy specimens from various muscle diseases and on human muscle in tissue culture. Anti–Leu‐19, anti–NKH‐1, and anti–N‐CAM had identical immunoreactive patterns. In tissue sections, they specifically recognized the satellite cells and the regenerating or newly denervated muscle fibers; in tissue cultures, they immunoreacted with myoblasts and myotubes; and in the homogenates of myopathic muscle and cultured myotubes, they immunoprecipitated the same glycoprotein of 145‐ to 220‐kd. The study concludes that (1) the commercially available monoclonal antibodies to NK cells, Leu‐19 and NKH‐1, are immunocytochemical markers for the satellite cells and the regenerating or newly denervated muscle fibers complementing conventional techniques in the diagnosis of patients with neuromuscular disorders; and (2) the CD56 is a common antigen shared by NK cells and muscle fibers during certain stages of muscle maturation, regeneration, or denervation. When expressed in the muscle, CD56 may facilitate the adhesion of cytotoxic lymphocytes to the muscle and play a role in muscle fiber injury.
Occult epidural chloroma complicated by acute paraplegia following lumbar puncture
Authors: Wong Meng C. , Krol George , Rosenblum Marc K.
Published: January 2005

Acute paraplegia complicating lumbar puncture in a leukemic patient with an unsuspected epidural chloroma is described, including the postmortem findings. Lumbar puncture can precipitate irreversible injury to the spinal cord in the patient with an occult lesion causing subarachnoid block. This account, in addition to documenting this phenomenon, suggests a potential advantage to magnetic resonance imaging over myelography.
Primary structure of the adult human skeletal muscle voltage‐dependent sodium channel
Authors: George Alfred L. , Komisarof Jeffrey , Kallen Roland G. , Barchi Robert L.
Published: January 2005

The gene encoding the principal voltage‐dependent sodium channel expressed in adult human skeletal muscle (SCN4A) has recently been linked to the pathogenesis of human hyperkalemic periodic paralysis and paramyotonia congenita. We report the cloning and nucleotide sequence determination of the normal product of this gene. The 7,823 nucelotide complementary DNa, designated hSkM1, encodes a 1,836 amino acid protein that exhibits 92% identity with the tetrodotoxin‐senstive rat skeletal muscle sodium channel alpha subunit, but lower homology with either the human heart sodium channel or with other sodium channels from immature rat muscle or rat brain. Specific hSkM1 RNA trasnscripts are expressed in adult human skeletal muscle but not in heart, brain, or uterus. The SCN4A gene product, hSkM1, is the human homologue of rSkM1, the tetrodotoxin‐sensitive sodium channel characteristic of adult rat skeletal muscle. This structural information should provide the necessary backdrop for identifying and evaluating mutations affecting the function of this channel in the periodic paralyses.