bluuebunny/crossref_metadata_2025_split huggingface dataset:
High frequency of apolipoprotein E ϵ2 Allele in hemorrhage due to cerebral amyloid angiopathy
Authors: Nicoll James A. R. , Burnett Claire , Love Seth , Graham David I. , Dewar Debbie , Ironside James W. , Stewart Janice , Vinters Harry V. 
Published: January 2005

AbstractFrom the somewhat conflicting published data on apolipoprotein E (apoE) genotype in hemorrhage due to cerebral amyloid angiopathy (CAA), it is unclear whether apoE genotype influences the risk of CAA‐related hemorrhage independently of its association with concomitant Alzheimer's disease (AD). We determined the apoE genotypes of 36 patients presenting with cerebral hemorrhage associated with histologically confirmed CAA. The frequency of apoE ϵ2 was 0.25 and the frequency of apoE ϵ4 was 0.18. Patients with CAA‐related hemorrhage and concomitant AD pathology (CERAD criteria, n = 17) had a high apoE ϵ4 frequency, close to that in AD cases without hemorrhage. Patients in whom CAA‐related hemorrhage occurred in the absence of significant AD pathology (n = 13) had an apoE ϵ4 frequency somewhat lower than non‐AD controls without hemorrhage. However, in CAA‐related hemorrhage, the apoE ϵ2 frequency was high regardless of whether significant AD pathology was present. We conclude that whereas possession of apoE ϵ2 may be a risk factor for cerebral hemorrhage due to CAA, apoE ϵ4 is a risk factor for concomitant AD but not an independent risk factor for CAA‐related hemorrhage.
Motor neuron syndromes in cancer patients
Authors: Forsyth P. A. , Dalmau J. , Graus F. , Cwik V. , Rosenblum M. K. , Posner J. B. 
Published: January 2005

AbstractPrevious reports indicate that motor neuron disease (MND) may rarely be associated with systemic cancer. We have encountered 14 patients with MND and cancer who formed three distinct groups. Group 1: Three patients developed a rapidly progressive MND, less prominent symptoms of involvement of other areas of the nervous system, and anti‐Hu antibodies. Group 2: Five women developed signs of upper motor neuron (UMN) disease, initially resembling primary lateral sclerosis (PLS), and breast cancer. In 4, symptoms of UMN occurred within 3 months of cancer diagnosis or tumor recurrence. They had no metastases or spinal cord compression. Serum anti‐neuronal antibodies were negative. Three patients are alive (follow‐up of 156, 15, and 12 months), and 2 remain without lower motor neuron signs. Group 3: Six patients developed MND resembling amyotrophic lateral sclerosis between 47 months before and 48 months after their cancer diagnosis. In group 1, the MND associated with the anti‐Hu antibody is unequivocally paraneoplastic. In group 2, the proximate onset of MND with the diagnosis of cancer or its recurrence, its pure or long‐lasting UMN signs, and its association with breast cancer, suggest that the disorder may be paraneoplastic. Although for most cancer patients who develop MND the occurrence of both disorders is probably coincidental, in some patients with MND a careful search for an underlying cancer is warranted (ie, patients in groups 1 and 2).
A double‐blind controlled study of gabapentin and baclofen as treatment for acquired nystagmus
Authors: Averbuch‐Heller L. , Tusa R. J. , Fuhry L. , Rottach K. G. , Ganser G. L. , Heide W. , Büttner U. , Leigh R. J. 
Published: January 2005

AbstractWe conducted a double‐blind crossover trial comparing gabapentin (up to 900 mg/day) to baclofen (up to 30 mg/day) as therapy for acquired nystagmus in 21 patients. We measured visual acuity and the nystagmus before, and at the end of, 2 weeks on each medication. For a group of 15 patients with acquired pendular nystagmus (APN), visual acuity improved significantly with gabapentin, but not with baclofen. Gabapentin significantly reduced APN median eye speed in all three planes, but baclofen did so only in the vertical plane. In 10 patients with APN, the reduction of nystagmus with gabapentin was substantial and 8 of these elected to continue taking the drug. In 6 patients with downbeat or torsional downbeat nystagmus, changes in median slow‐phase eye speed were less consistent with both drugs, either increasing or decreasing, and being dependent on viewing conditions. Only 1 patient showed consistent reduction of median eye speed, and this was achieved by either drug. Our findings suggest that gabapentin may be an effective treatment for many patients with APN and that occasional patients with downbeat nystagmus will respond to gabapentin or baclofen.
Association of Campylobacter jejuni serotype with antiganglioside antibody in Guillain‐Barré syndrome and Fisher's syndrome
Authors: Yuki Nobuhiro , Takahashi Masaki , Tagawa Yumi , Kashiwase Kouichi , Tadokoro Kenji , Sairo Kahiko 
Published: January 2005

AbstractUsing Penner's method and Lior's scheme, we serotyped 31 isolates from patients with Guillain‐Barré syndrome, 7 isolates from those with Fisher's syndrome, and isolates from patients with sporadic enteritis. PEN 19 of Campylobacter jejuni was isolated more frequently from the Guillain‐Barré syndrome patients (16/31 isolates, 52%) than from the sporadic enteritis patients (5%). LIO 7 of C. jejuni also was isolated more frequently from the Gillain‐Barré syndrome patients (14/31 isolates, 45%) than from the enteritis patients (3%). One reason why Guillain‐Barré syndrome is rare, despite the high incidence of C. jejuni enteritis, may be the low frequencies of PEN 19 and LIO 7. The frequency of positive anti‐GM 1 antibody titers in the Guillain‐Barré syndrome patients with PEN 19 isolates was higher than that in the Guillain‐Barré syndrome and Fisher's syndrome patients without PEN 19 isolates. We speculate that the serotypic determinant of PEN 19 aids in the production of anti‐GM 1 antibody by a GM 1−like lipopolysaccharide. In contrast, 5 of the 7 isolates from the Fisher's syndrome patients belonged to PEN 2:LIO 4. The IgG anti‐GQ 1b antibody was associated with PEN 2 and LIO 4. These serotypic determinants may aid in the production of IgG anti‐GQ 1b antibody by a GQ 1b−like lipopolysaccharide.
Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy
Authors: Kuzniecky Ruben , Guthrie Barthon , Mountz James , Bebin Martina , Faught Edward , Gilliam Frank , Liu Hong‐Gang 
Published: January 2005

AbstractHypothalamic hamartomas and gelastic seizures are often associated with cognitive deterioration, behavioral problems, and poor response to anticonvulsant treatment or cortical resections. The origin and pathophysiology of the epileptic attacks are obscure. We investigated 3 patients with this syndrome and frequent gelastic seizures. Ictal single‐photon emission computed tomography performed during typical gelastic seizures demonstrated hyperperfusion in the hamartomas, hypothalamic region, and thalamus without cortical or cerebellar hyperperfusion. Electroencephalographic recordings with depth electrodes implanted in the hamartoma demonstrated focal seizure origin from the hamartoma in 1 patient. Electrical stimulation studies reproduced the typical gelastic events. Stereotactic radiofrequency lesioning of the hamartoma resulted in seizure resulted in seizure remission without complications 20 months after surgery. The functional imaging findings, electrophysiological data, and results of radiofrequency surgery indicate that epileptic seizures in this syndrome originate and propagate from the hypothalamic hamartoma and adjacent structures.
Selective vestibular damage in neurosarcoidosis
Authors: von Brevern M. , Lempert T. , Bronstein A. M. , Kocen R. 
Published: January 2005

AbstractWe report a patient with neurosarcoidosis who developed bilateral benign paroxysmal positional vertigo (BPPV) of the posterior canals, deafness, and absent responses to conventional caloric and rotational vestibular testing. Additional rotation in the planes of the vertical semicircular canals revealed relative sparing of vertical canal function. This vertical–horizontal canal dissociation explains the presence of BPPV and suggests that the vestibular damage in this patient is secondary to a vasculitic neuropathy.
Ischemic lesion volumes in acute stroke by diffusion‐weighted magnetic resonance imaging correlate with clinical outcome
Authors: Löuvbld Karl‐Olof , Baird Alison E. , Schlaug Gottfried , Benfield Andrew , Siewert Bettina , Voetsch Barbara , Connor Ann , Burzynski Cara , Edelman Robert R. , Warach Steven 
Published: January 2005

AbstractDiffusion‐weighted magnetic resonance imaging detects ischemic injury within minutes after onset, and has been used to demonstrate drug efficacy in animal models of stroke. In 50 patients diagnosed with acute ischemic stroke ( < 24‐hour duration) within the middle cerebral artery territory, lesion volume was measured by diffusion‐weighted imaging. Thirty‐four patients also had volumes measured by T2‐weighted imaging chronically (median time, 7.5 weeks; mean, 15.9 weeks). Clinical severity was measured by the National Institutes of Health Stroke Scale Score and the Barthel index. Acute lesion volumes correlated with the acute stroke scale score (r = 0.56), the chronic stroke scale score (r = 0.63), and chronic lesion volumes (r = 0.84). Chronic volumes correlated with the chronic stroke scale score (r = 0.86) and the Barthel index (r = −0.60). When only cortically based lesions were considered, the correlations relating acute lesion volume measured by diffusion‐weighted imaging (r = 0.61) and chronic lesion volume measured by T2‐weighted imaging (r = 0.90) to the chronic stroke scale score were higher. These results provide evidence that lesion volumes determined by diffusion‐weighted imaging acutely may be predictive of clinical severity and outcome, and may support a role for diffusion‐weighted imaging in the assessment of acute stroke therapies in clinical trials.
Quantitative assessment of cardiovascular autonomic function in Guillain‐Barré syndrome
Authors: Flachenecker P. , Wermuth P. , Hartung H.‐P. , Reiners K. 
Published: January 2005

AbstractTo study the temporal course and the relationship between autonomic failure and motor weakness in Guillain‐Barré syndrome (GBS), a total of 164 autonomic function tests were serially applied for up to 1 year in 13 consecutive patients. Results were compared with those obtained in 25 healthy volunteers and 13 patients with other neurological diseases. Parasympathetic function tests comprised heart rate responses to Valsalva maneuver, deep breathing, and active change of posture, whereas sympathetic vasomotor function was assessed by blood pressure responses to handgrip and standing. At the height of the disease, subclinical autonomic involvement of both parasympathetic and sympathetic arms was revealed in the vast majority of patients. Abnormalities of autonomic function tests improved gradually over time, paralleling the recovery of motor function, but were only partially related to clinically significant autonomic dysfunction. Correlation analysis suggested that tachycardia in the context of GBS might be caused by a reduction of sympathetically mediated peripheral vascular tone rather than by vagal failure.
Association of myopathy with large‐scale mitochondrial dna duplications and deletions: Which is pathogenic?
Authors: Manfredi Giovanni , Vu Tuan , Bonilla Eduardo , Schon Eric A. , DiMauro Salvatore , Arnaudo Enrica , Zhang Lee , Rowland Lewis P. , Hirano Michio 
Published: January 2005

AbstractWe identified large‐scale heteroplasmic mitochondrial DNA (mtDNA) rearrangements in a 50–year‐old woman with an adult‐onset progressive myopathy. The predominant mtDNA abnormality was a 21.2–kb duplicated molecule. In addition, a small population of the corresponding partially deleted 4.6–kb molecule was detected. Skeletal muscle histology revealed fibers that were negative for cytochrome c oxidase (COX) activity and had reduced mtDNA‐encoded COX subunits. By single‐fiber polymerase chain reaction analysis, COX‐negative fibers contained a low number of wild‐type or duplicated mtDNA molecules (ie, nondeleted). In situ hybridization demonstrated that the abnormal fibers contained increased amounts of mtDNA compared with normal fibers and that most of the genomes were deleted. We concluded that deleted mtDNA molecules were primarily responsible for the phenotype in this patient.
Otolith—Ocular responses in familial episodic ataxia linked to chromosome 19p
Authors: Furman Joseph M. 
Published: January 2005

AbstractWe evaluated several members of a family with episodic ataxia type 2 linked to chromosome 19p by using a battery of vestibulo‐ocular reflex (VOR) tests. Testing focused on the otolith–ocular reflex and semicircular canal–otolith interaction. Our aims were to improve understanding of the structures important for the VOR and to define further the range of vestibulo‐ocular, in particular otolith–ocular, manifestations within a family with episodic ataxia. Ocular motor, semicircular canal–ocular, and semicircular canal–otolith interaction assessments suggested impairment of the vestibulocerebellum (ie, the flocculonodular lobe); the brainstem appeared to be relatively spared. Eye movements during constant velocity off‐vertical axis rotation (OVAR), a pure otolith stimulus, indicated that the modulation component of the response was normal whereas the bias component was reduced or nearly absent. Based on these data, it appears that the cerebellum is not responsible for the generation of the modulation component of the response to OVAR. However, the bias component appears to depend on the caudal midline cerebellum.
A proposed mutation, Val781Ile, associated with hyperkalemic periodic paralysis and cardiac dysrhythmia is a benign polymorphism
Authors: Green Donnella S. , Hayward Lawrence J. , George Alfred L. , Cannon Stephen C. 
Published: January 2005

AbstractTwenty different point mutations have been identified in the gene coding for the α subunit of the adult skeletal muscle sodium channel in families with hyperkalemic periodic paralysis, paramyotonia congenita, and the potassium‐aggravated myotonias. One novel mutation (Val781Ile) was reported in an adopted boy with potassium‐sensitive weakness and cardiac dysrhythmia. The confidence in establishing this rare amino acid substitution as a causative mutation was limited by the absence of family members for segregation analysis. Functional expression studies herein show that Val781Ile is most likely a benign polymorphism and not a disese‐associated mutation.
Maternally inherited encephalopathy associated with a single‐base insertion in the mitochondrial tRNATrp gene
Authors: Santorelli F. M. , Tanji K. , Sano M. , Shanske S. , El‐Shahawi M. , Kranz‐Eble P. , Dimauro S. , De Vivo D. C. 
Published: January 2005

AbstractWe identified a single thymidine inserton at nucleotide postion 5537 (T5537i) in the mitochondrial DNA transfer RNA gene for tryptophan in a family in which the proband had a progressive neurological disorder and his brother died in infancy of Leigh syndrome. Muscle biopsy from the proband showed subsarcolemmal proliferation of mitochondria and ecreased activities of oxidative metabolism enzymes, in particular complex IV. Complex IV was also severely reduced in autopsy tissues, including heart and brain tissues, from the Leigh syndrome infant. The novel T5537i mutaion was very abundant in tissues from the proband and the infant (>92%) and less abundant (range, 42–89%) in blood, hair follicles, and skin fibroblasts from 4 maternal relatives, 3 of whom showed a neuropsychiatric disturbance. The mutation was not found in more than 100 control subjects. The degree of heteroplasmy in blood correlated well with the severity of the clinical presentation, suggesting specific segregation with the disease.
Increased 3‐nitrotyrosine and oxidative damage in mice with a human copper/zinc superoxide dismutase mutation
Authors: Ferrante Robert J. , Shinobu Leslie A. , Schulz Jörg B. , Matthews Russell T. , Thomas Craig E. , Kowall Neil W. , Gurney Mark E. , Beal M. Flint 
Published: January 2005

AbstractMutations in copper/zinc superoxide dismutase (SOD1) cause a subset of cases of autosomal dominant familial amyotrophic lateral sclerosis (FALS). Transgenic mice that express these point mutations develop progressive paralysis and motor neuron loss thought to be caused by a gain‐of‐function of the enzyme. The gain‐of‐function may be an enhanced ability of the mutant SOD1 to generate ·OH radicals or to facilitate peroxynitrite‐mediated nitration of proteins. We found significant increases in concentrations of 3‐nitrotyrosine, a marker of peroxynitrite‐mediated nitration, in upper and lower spinal cord and in cerebral cortex of transgenic mice with the FALS‐associated G93A mutation. Malondialdehyde, a marker of lipid peroxidation, was increased in cerebral cortex. 3‐Nitrotyrosine‐, heme oxygenase‐1–, and malondialdehyde‐modified protein immunoreactivities were increased throughout SOD1 transgenic mice spinal cord but particularly within motor neurons. These results suggest that the gain‐of‐function of at least one mutant SOD1 associated with FALS involves increased protein nitration and oxidative damage, which may play a role in neuronal degeneration.
Monoclonal antibodies to purified cortical lewy bodies recognize the mid‐size neurofilament subunit
Authors: Galvin James E. , Lee Virginia M.‐Y. , Baba Minami , Mann David M. A. , Dickson Dennis W. , Yamaguchi Hisako , Schmidt M. Luise , Iwatsubo Takeshi , Trojanowski John Q. 
Published: January 2005

AbstractLewy bodies (LBs) are filamentous intraneuronal inclusions that are hallmark lesions of Parkinson's disease, and LBs have been shown, by immunohistochemistry, to contain cytoskeletal as well as other cellular proteins. Similar LBs also occur in the cortical neurons of a subset of patients with Alzheimer's disease (AD), and cortical LBs are the predominant or sole lesions in the brains of patients with an AD‐like dementia known as diffuse Lewy‐body disease (DLBD). To gain insight into the biochemical composition of LBs, we generated monoclonal antibodies (mAbs) to LBs purified from the brains of patients with DLBD. Here, we describe three of these new mAbs (LB48, LB202, and LB204) that stained LBs by immunohistochemistry and recognized the medium molecular mass neurofilament (NF) protein in western blots. These results support the hypothesis that NF subunits are integral components of LBs. Continued efforts to clarify the composition of LBs are likely to lead to novel strategies for the antemortem diagnosis of LB disorders as well as to insight into the role LBs play in the degeneration of affected neurons in these disorders.
Magnetoencephalography in partial epilepsy: Clinical yield and localization accuracy
Authors: Knowlton R. C. , Laxer K. D. , Aminoff M. J. , Roberts T. P. L. , Wong S. T. C. , Rowley H. A. 
Published: January 2005

AbstractThe goals of this study were to determine (1) the yield of magnetoencephalography (MEG) according to epilepsy type, (2) if MEG spike sources colocalize with focal epileptogenic pathology, and (3) if MEG can identify the epileptogenic zone when scalp ictal electroencephalogram (EEG) or magnetic resonance imaging (MRI) fail to localize it. Twenty‐two patients with mesial temporal (10 patients), neocortical temporal (3 patients), and extratemporal lobe epilepsy (9 patients) were studied. A 37‐channel biomagnetometer was used for simultaneously recording MEG with EEG. During the typical 2–3–hour MEG recording session, interictal epileptiform activity was observed in 16 of 22 patients. MEG localization yield was greater in patients with neocortical epilepsy (92%) than in those with mesial temporal lobe epilepsy (50%). In 5 of 6 patients with focal epileptogenic pathology, MEG spike sources were colocalized with the lesions. In 11 of 12 patients with nonlocalizing (ambiguous abnormalities or normal) MRI, MEG spike sources were localized in the region of the epileptogenic zone as ultimately defined by all clinical and EEG information (including intracranial EEG). In conclusion, MEG can reliably localize sources of spike discharges in patients with temporal and extratemporal lobe epilepsy. MEG sometimes provides noninvasive localization data that are not otherwise available with MRI or conventional scalp ictal EEG.
Altered serotonin synthesis in the dentatothalamocortical pathway in autistic boys
Authors: Chugani Diane C. , Muzik Otto , Rothermel Robert , Behen Michael , Chakraborty Pulak , Mangner Thomas , Da Silva Edné A. , Chugani Harry T. 
Published: January 2005

AbstractBased on reports of increased platelet serotonin in 30 to 50% of autistic subjects, abnormal serotonergic neurotransmission may be important in the pathogenesis of autism. However, serotonin metabolite measurements in cerebrospinal fluid of autistic subjects have failed to demonstrate consistent abnormalities. Using α‐[11C]methyl‐L−tryptophan as a tracer for serotonin synthesis with positron emission tomography, we now report unilateral alterations of serotonin synthesis in the dentatothalamocortical pathway in autistic boys. Asymmetries of serotonin synthesis were found in frontal cortex, thalamus, and dentate nucleus of the cerebellum in all 7 boys, but not in the 1 autistic girl studied. Decreased serotonin synthesis was found in the left frontal cortex and thalamus in 5 of the 7 boys and in the right frontal cortex and thalamus in the 2 remaining autistic boys. In all 7 cases, elevated serotonin synthesis in the contralateral dentate nucleus was observed. Statistically significant differences between autistic boys and their nonautistic siblings (n = 5) were obtained when comparing asymmetry indices for frontal cortex, thalamus, and dentate nucleus combined as well as individually for frontal cortex and thalamus. These serotonergic abnormalities in a brain pathway, important for language production and sensory integration, may represent one mechanism underlying the pathophysiology of autism.
Idiopathic torsion dystonia linked to chromosome 8 in two mennonite families
Authors: Almasy L. , Bressman S. B. , Raymond D. , Kramer P. L. , Greene P. E. , Heiman G. A. , Ford B. , Yount J. , De Leon D. , Chouinard S. , Saunders‐Pullman R. , Brin M. F. , Kapoor R. P. , Jones A. C. , Shen H. , Fahn S. , Risch N. J. , Nygaard T. G. 
Published: January 2005

AbstractThe DYT1 locus on chromosome 9q34 is responsible for most childhood limb‐onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult‐onset, and predominantly cranial–cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial–cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40−cM segregates with ITD in these families, suggesting a shared mutation from the recent past.
Long‐term stroke risk in children with sickle cell disease screened with transcranial doppler
Authors: Adams R. J. , McKie V. C. , Carl E. M. , Nichols F. T. , Perry R. , Brock K. , McKie K. , Figueroa R. , Litaker M. , Weiner S. , Brambilla D. 
Published: January 2005

AbstractStroke is an important complication of sickle cell disease. Stroke prediction is clinically important because it offers the possibility of primary prevention. In 1992, transcranial Doppler (TCD) evidence of elevated intracranial internal carotid or middle cerebral artery velocity was demonstrated to be associated strongly with an increased risk of ischemic stroke. This study extends the original study and includes 125 more children, longer follow‐up, and intracranial hemorrhage in the stroke‐risk model. Elevated time averaged mean maximum blood flow velocity, especially when velocity is 200 cm/sec or greater by TCD, was associated strongly with stroke risk. The cases not predicted by TCD point to the need for more information on the optimal timing of TCD surveillance for stroke risk.