bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maternally inherited mitochondrial myopathy and myoclonic epilepsy
Authors: Rosing Howard S. , Hopkins Linton C. , Wallace Douglas C. , Epstein Charles M. , Weidenheim Karen 
Published: January 2005

AbstractA family is described with familial myoclonic epilepsy associated with mitochondrial myopathy. The disorder follows a maternal inheritance pattern consistent with a mitochondrial DNA (mtDNA) mutation. The large kindred permitted exclusion of autosomal dominant, recessive, and X‐linked patterns of transmission. Several characteristics of the inheriatnce and variability of expression within the pedigree are consistent with recently acquired knowledge about the genetics of human mtDNA. The clilnical spectrum of disease is compatible with a proportionality model of mutant and wild‐type mt DNAs.Muscle biopsies of affected patients showed an increased number of abnormal muscle mitochondria. Serum levels of pyruvate or and lactate were elevated. The most severely affected pateint had constant myoclonic jerking, dementia, ataxia, spasticity, hearing loss, and hopoventilation. Cerebral dysfuntion in patients with mild involvement waas marked by prominent photic driving seen on electroencephalograms and high‐amplitude visual and somatosensory evoked responses but no myoclonus, ataxia, or dementia. The individual clinical features of the disease worsen over time for all patients; however, mildly affected patients have not become moderately afftected and moderately affected patients have not become severely affected.
Alzheimer changes in nondemented patients younger than sixty‐five: Possible early stages of Alzheimer's disease and senile dementia of Alzheimer type
Authors: Ulrich J. 
Published: January 2005

AbstractSenile plaques (SP) and neurofibrillary tangles (NFT) were found in 38 (74.5%) of 51 unselected brains of nondemented patients who died between the ages of 55 and 64 years. A high proportion (22, or 43%) had only NFTs. These were consistently present in the entorhinal cortex and/or the hippocampus; the olfactory bulb, the amygdala, and the nucleus basalis of Meynert were also occasionally invloved. Isolated SPs were seen in only 3 brains (6%); SPs and NFTs coexisted in 13 (25.5%). The distribution patterns of NFTs and SPs occurred in a more generalized distribution over the base and convexity of the cerebrum. The plaques were usually small (30 μ in diameter) and consisted of delicate fibrillary material. Other types of SP were also seen. The incidence of various types of plaques in nondemented patients is considered to indicate a morphological evolution of these structures.
Tropical spastic paraparesis: A neuroepidemiological study in Colombia
Authors: Román Gustavo C. , Román Lydia N. , Spencer Peter S. , Schoenberg Bruce S. 
Published: January 2005

AbstractA geographic isolate of tropical spastic paraparesis (TSP) in Tumaco, Colombia, is described. Fifity confirmed cases were identified (29 men, 21 women) with an estimated prevalence rario of 98 cases per 100, 000 population. Patients with identified cases ranged in age from 24 to75 years (mean, 46.5). TSP begins with burning feet, leg stiffness, spastic bladder, and, in men, impotence. Patients exhibited leg weakness, spasticity, hyperreflexia, and scissoring gait. Babinski, Chaddock, and Hoffmann signs could elicited. Ankle reflexes and vibratory sensation of the feet were decresed. Intellectual function, coordination, and cranial nerves remained normal. TSP is slowly progressive disorder but so far there have been no deaths from it. Forth cases in this report began between 1971 and 1980; the earliest documented case began in 1952. Living conditions and occupations of the patients were typical for the region. Yaws had occured in 74% of confirmed cases. No likely etiological neurotoxix or nutritional factors identified. TSP aslo has been described in India, Africa, the Seychelles, and Jamaica.
Seizures and cerebral infarction in the full‐term newborn
Authors: Levy Susan R. , Abroms Israel F. , Marshall Paul C. , Rosquete Elizabeth E. 
Published: January 2005

AbstractCerebral arterial infarction is a more common cause of neonatal seizures than has previously appreciated. In 50 full‐term newborns with seizures studied, 7 had cerebral infaction which was the secondmost common definable cause of seizures. We describe these 7 ful‐term infants with cerebrovascular accidents who presented with focal or generalized seizures. Onstetrical histories were normal in 5 of these patients. Their neurological examinations demonstrated lethargy and generalized hypotania. Electroencephalograms demonstrated focal abnormalities in 4 infants. Computed tomographic scans in the first week of life showed infarction in 6 newborns and in another at age 6 months. Neonatal stroke should be considered as a cause of seizures in a full‐term newborn in spite of a normal obstetrical history and a nonfocal neurological examination.
Direct immunofluorescence findings in peripheral nerve from patients with diabetic neuropathy
Authors: Graham Anna R. , Johnson Peter C. 
Published: January 2005

AbstractDirect immunofluorescence examination was performed on peripheral nerve from 16 patients with diabetes mellitus and 53 additional patients with peripheral neuropathy of diverse cause. Six nerves from patients with diabetes mellitus yielded positive findings: 4 had grandular and lamellar deposition of IgM within the perineurium (of which 2 also had fibrinogen, IgA, C3, and albumin and I also had IgG); 1 had IgM, C3, and C4, and perineurial fibrinogen; the sixth contained linear perineurial C3 and fibrinogen. These 6 nerves contained axonal degeneration (3), axonal degeneraion with chornic demyelination (1), microvasculitis with wallerian degeneration (1), and no pathological change (1). Sixteen of 53 nerves from nondiabetics yielded positive findings with immunofluorescence, possibly as a result of vascular leakage or as a manifestation of impaired removal of plasma proteins. The deposition of immunoreactants, as well as other plasma proteins, in peripharal nerve from patients with diabetes mellitus probably represents a “trapping” phenomenon reflecting altered basement membrane permeability. Alternatively, the changes could reflect a defect in the blood‐nerve barrier in diabetic microangiopathy.
Postoperative contrast enhancement in patients with brain tumor
Authors: Caincross J. Gregory , Pexman J. H. Warwick , Rathbone Michel P. , DelMaestro Ronaldo F. 
Published: January 2005

AbstractContrast enhancement resulting from surgical trauma may mimic residual enhancing tumour, thereby complicating the interpretation of postoperative computed tomographic scans. We assessed the natural history of postoperative enhancement in 10 patients with brain tumour. Contrast enhancement distinguishable from residual enhancing tumor appered along the operative margin followingtumor resections but not lobectomies. Enhancement appeared as early as the fifth postoperative day, was most intense at two weeks, and persisted for several months. Prior to the fifth postoperative day, enhancement reflected residual tumor. Edema and artifacts were more prominent on the first and second postoperativedays than on the third and fourth. We recommend that postoperaive computed tomographic scans to assess residual enhancing tumor be performed on the third or fourth postoperative day. This timing avoids postoperative enhancement and minimizes interpretative difficulties caused by artifacts.
Leptomeningeal dissemination of primary central nervous system tumors of childhood
Authors: Packer Roger J. , Siegel Kathy R. , Sutton Leslie N. , Litmann Phillip , Bruce Derek A. , Schut Luis 
Published: January 2005

AbstractPresymptomatic craniospinal radiation therapy improves the rate of survival for children with brain tumors, which frequently metastasize to the leptomeninges. Radiotherapy may cause neurological damage and should be used only in patients considered to be at highest risk for leptomeningeal dissemination (LMS) at either the time of initial diagnosis or onset of disease relapse. We reviewed 314 consecutive patients with brain tumors to determine the incidence, timing, and importance of LMS. LMS occurred in 60 (19%) children. LMS occurred before diagnosis in 30 patients, as the only site of relapse or simultaneously with local first disease recurrence in 17 patients, and after local disease recurrence in 13 patients. Children with primitive neuroectodermal tumors, anaplastic gliomas, and ependymomas most frequently had LMS. Patients with primitive neuroectodermal tumors and posterior fossa anaplastic gliomas frequently had LMS before diagnosis or at the onset of relapse, whereas patients with ependymomas had LMS after local disease relapse. Both myelography and cerebrospinal fluid cytological examination are required to diagnose LMS.
Complex partial status epilepticus: A depth‐electrode study
Authors: Williamson Peter D. , Spencer Dennis D. , Spencer Susan S. , Novelly Robert A. , Mattson Richard H. 
Published: January 2005

AbstractOf 87 patients with complex partial epilepsy who were evaluated with depth electrodes, 8 developed complex partial status epilepticus (CPSE). Seizures originated extratemporally in all 8 patients. Frontal lobe onset was established in 4 patients and was probable in 1 more. Medial parietal onset was documented in 1 patient. Medial occipitoparietal onset occurred in another, and 1 patient had multifocal onsets. Even when seizures did not begin frontrally, the frontal lobes were prominently involved during CPSE. CPSE did not occur in 60 patients with seizures originating in the temporal lobe. Both recurrent clinical seizures and continuous altered behavior were observed. Some patients exhibited both clinical patterns at different times during the same episode. Depth recording consistently demonstrated recurrent isolated seizure discharges throughout episodes. The clinical patterns were related, in part, to electroencephalographic seizure frequency, duration, and intensity. Episodes of CPSE were not associated with intellectual deterioration.
Vitamin E deficiency associated with vision loss and bulbar weakness
Authors: Larsen Paul D. , Mock Donald M. , O'Connor Patrick S. 
Published: January 2005

AbstractWe describe a 14‐year‐old boy who was severely debilitated by the neurological syndrome associated with vitamin E deficiency secondary to chronic cholestatic liver disease. In addition to the usual neurological deficits described with this deficiency, the patient had severe bulbar weakness and vision loss which we attribute to the degree and duration of his vitamin E deficiency. Vitamin A deficiency may have contributed to his visual disturbance. Early recognition of vitamin E deficiency is important, as the neurological and visual disorders which result are treatable.
Intravenous lisuride corrects oscillations of motor performance in Parkinson's disease
Authors: Obeso J. A. , Luquin M. R. , Martínez Lage J. M. 
Published: January 2005

AbstractSeventeen lisuride infusions were given to 12 patients with Parkinson's disease who showed daily oscillations in motor performance. The mean lisuride dose given in continuous intravenous infusion was 0.59 mg (range, 0.3 to 1.0 mg) during a mean period of 9.0 hours (range, 5 to 12 hours). A significant reduction in the number of hours “off” was obtained in all patients. Additional oral levodopa was necessary to maintain normal mobility throughout the infusions. Severe hypotension occurred in 2 patients which required termination of the infusions. Five patients experienced nausea, sweating, and malaise but this did not necessitate interruption of the infusions. Lisuride appears to be one of the best available dopamine agonists for continuous dopaminergic stimulation.
Cerebral mapping of apraxia in Alzheimer's disease by positron emission tomography
Authors: Foster Norman L. , Chase Thomas N. , Patronas Nicholas J. , Gillespie Marjorie M. , Fedio Paul 
Published: January 2005

AbstractThe ability to mimic skilled movements or to pantomime them in response to spoken command was compared with psychometric performance and with regional glucose utilization as estimated by [18F]fluorodeoxyglucose positron emission tomography in 17 right‐handed patients with Alzheimer's disease and 6 age‐matched normal subjects. Apraxia scores, both on tests to command and to imitation, were significantly lower in the Alzheimer patients. Imitation scores correlated best with performance on tests of visual–spatial ability and with cortical metabolism in the right parietal lobe; command scores related most closely with the results of tests reflecting verbal proficiency and with cortical metabolism in the left inferior hemisphere, especially frontally. Apraxia to command and imitation may thus reflect neuronal dysfunction in distinct cerebral regions in patients with Alzheimer's disease.
Granule cell deficit in the mouse cerebellum after total asphyxia
Authors: Yoshioka Hiroshi , Yoshida Akira , Ochi Masaharu , Iino Shigeru , Fujiwara Katsuhiko , Ishimura Kazuhisa , Kusunoki Tomoichi 
Published: January 2005

AbstractThe cerebellar granule cell continues to proliferate after birth in the mouse as well as in the human being. Total asphyxia in the neonatal period in 40 mice resulted in a 13% reduction in the granule cell number and a 7% reduction in the Purkinje cell number. Differential effects on granule cell and Purkinje cell populations were noted when particular cerebellar lobules were examined.
Kernicterus in an adult
Authors: Waser Marco , Kleihues Paul , Frick Paul 
Published: January 2005

AbstractA 43‐year‐old woman was initially seen because of icterus. Clinical investigations revealed severe hepatic damage probably due to non‐A, non‐B hepatitis. She was treated with extracorporeal charcoal‐column perfusion but died two weeks later in a hepatic coma. At autopsy, the brain showed kernicterus with typical discoloration of the hippocampus, the subthalamic nuclei, and the cerebellar dentate nuclei. Kernicterus in an adult is very rare. In this case, extracorporeal charcoalcolumn perfusion treatment led repeatedly to severe depletion of fibrinogen, with extensive hemorrhages. Overload of the already reduced hepative glucuronyl‐transferase capacity resulted in high serum levels of unconjugated bilirubin, an apparent prerequisite for the development of bilirubin encephalopathy.
Carotid surgery, cognitive function, and cerebral blood flow in patients with transient ischemic attacks
Authors: Hemmingsen Ralf , Mejsholm Birgitte , Vorstrup Sissel , Lester Jack , Engell Hans Christian , Boysen Gudrun 
Published: January 2005

AbstractPsychological testing, cerebral blood flow (CBF) measurement, and computed tomographic scan were performed before and 3 months after operation in 31 patients subjected to endarterectomy of the internal carotid artery (ICA) because of transient ischemic attacks and in 11 control patients operated on for atherosclerosis of the lower extremities. In preoperative psychological testing both carotid surgery patients and controls performed somewhat below the normal level for their age group. Postoperatively, cognitive functions improved in the carotid surgery group but not in the control group. The improvement was related to the laterality of the operation, being more marked in verbal tests in patients with left ICA operation and in visuospatial tests in patients with right ICA operation. Postoperatively regional CBF improved in 2 patients only. Hence the intellectual improvement could not be related to changes in CBF. Intellectual deterioration in patients with internal carotid atherosclerosis may be delayed or terminated by surgical abolition of the source of multiple cerebral embolizations.
Cerebral metabolic effects of neonatal seizures measured with in vivo 31P NMR spectroscopy
Authors: Younkin Donald P. , Delivoria‐Papadopoulos Maria , Maris John , Donlon Eileen , Clancy Robert , Chance Britton 
Published: January 2005

AbstractIn vivo phosphorus 31 nuclear magnetic resonance (31P NMR) spectroscopy was used to evaluate changes in cerebral high‐energy phosphate compounds in 8 infants with seizures. During the study 4 babies had seizures that caused a 50% decrease in the phosphocreatine to inorganic phosphate (PCr/Pi) ratio. Focal seizures caused lateralized decreases in the PCr/Pi ratio; generalized seizures caused bilateral decreases. Postictal spectra had increased PCr/Pi ratios, presumably due to postictal inhibition. Interictal 31P NMR spectra were normal. One patient's seizures were successfully treated with intravenously administered phenobarbital during NMR data acquisition, causing an immediate increase in the PCr/Pi ratio from 0.7 to 1.2. These studies indicate that cerebral PCr concentration decreases by approximately 33% and that oxidative metabolism increases by approximately 45% during neonatal seizures. Five babies had PCr/Pi ratios of less than 0.8 during seizures and subsequently developed long‐term neurological sequelae, which suggests that neonatal seizures may cause or exacerbate cerebral injury by increasing cerebral metabolic demands above energy supply.
Developmental Foix‐Chavany‐Marie syndrome in identical twins
Authors: Graff‐Radford Neill R. , Bosch E. Peter , Stears John C. , Tranel Daniel 
Published: January 2005

AbstractFoix, Chavany, and Marie described a syndrome of faciopharyngoglossomasticatory diplegia resulting from bilateral anterior opercular infarction. We describe identical twins who have a developmental form of the syndrome. The twins, aged 41 years, were the product of a normal pregnancy and birth, but had subsequent delayed motor milestones, seizures, poor language development, mild mental retardation, drooling, absent gag reflexes, inability to protrude the tongue, briskk jaw jerks, impaired fine finger movements, symmetrical brisk reflexes, flexor plantar responses, and mildly spastic gait. Magnetic resonance imaging showed bilateral perisylvian cortical dysplasia compatible with polymicrogyria and incomplete opercula formation.
Loss of pedunculopontine neurons in progressive supranuclear palsy
Authors: Zweig Richard M. , Whitehouse Peter J. , Casanova Manuel F. , Walker Lary C. , Januarykel William R. , Price Donald L. 
Published: January 2005

AbstractIn the present study, the number of neurons (>20 μm in diameter) within the lateral part of the pedunculopontine nucleus pars compacta (PPNc) was determined at six rostrocaudal levels in 3 subjects with progressive supranuclear palsy (PSP), in 9 subjects with Alzheimer's disease, and in 6 age‐matched control subjects. At each level examined, significantly fewer neurons were present in patients with PSP than in control subjects (49 to 69% reduction). Significant differences in numbers of neurons were not demonstrated between control subjects and patients with Alzheimer's disease. The extent of pathological changes, particularly neurofibrillary tangles, was examined within the PPNc of subjects in these three groups. The average number of neurofibrillary tangles in a 12‐μm‐thick midlevel section of the lateral PPNc was 68.7 in subjects with PSP, 18.3 in those with Alzheimer's disease, and 3.0 in aged control subjects. These abnormalities of PPNc neurons in PSP may play important roles in some of the clinical features characteristic of this disease.
Familial alzheimer's disease in american descendants of the volga germans: Probable genetic founder effect
Authors: Bird Thomas D. , Lampe Thomas H. , Nemens Ellen J. , Miner Gary W. , Sumi S. M. , Schellenberg Gerard D. 
Published: January 2005

AbstractFive families are described in which autopsy‐confirmed presenile Alzheimer's disease (AD) has occurred in men and women over multiple generations consistent with autosomal dominant inheritance. All 5 families are descendants of a group of immigrants known as the Volga Germans who came to the United States between 1870 and 1920. Their ancestors moved from Germany to the southern Volga region of Russia in the 1760s. All 5 American families are descendants of persons originally living in two small adjacent Volga German villages and share several surnames known to have been present in the census records of those villages. Although a single affected common ancestor cannot be identified, it is likely that the AD in these families represents an autosomal dominant gene inherited from one ancestor (the founder effect). This information is of importance in the genetic study of AD in these families because it greatly increases the probability of genetic homogeneity. There are more than 300,000 American descendants of the Volga Germans, and the prevalence of AD has never been studies in this population.
Neurological complications of human immunodeficiency virus infection in patients with lymphadenopathy syndrome
Authors: Janssen Robert S. , Saykin Andrew J. , Kaplan Jonathan E. , Spira Thomas J. , Pinsky Paul F. , Sprehn Gwen C. , Hoffman James C. , Mayer W. Brem , Schonberger Lawrence B. 
Published: January 2005

AbstractTo determine if there is a relationship between neurological abnormalities and human immunodeficiency virus (HIV) infection in patients with lymphadenopathy syndrome (LAS), we studied 39 homosexual/bisexual men with LAS (mean duration of LAS, 4.1 years) and 38 homosexual/bisexual men who were seronegative for HIV (controls). Six LAS patients had histories of symptoms suggesting mononeuropathy, 9 had symptoms suggesting distal symmetrical polyneuropathy, and 9 had histories of herpes zoster radiculitis. Overall, significantly more LAS patients (18) than controls (3) had histories of symptoms or signs of neurological abnormality (odds ratio, 10.0; p = 0.0003). By neuropsychological assessment, 9 of 18 LAS patients and 2 of 26 controls were abnormal (odds ratio, 12.0; p = 0.004). Of those abnormal on the neuropsychological assessment, the majority scored in the mildly impaired range. Magnetic resonance imaging was abnormal in 1 LAS patient and in 1 control. Neither neurological nor neuropsychological abnormalities correlated with duration of LAS, absolute T‐helper lymphocyte count, or T‐helper/T‐suppressor lymphocyte ratio. These results indicate an association of neurological and neuropsychological abnormalities with HIV in patients with LAS. They suggest that mild neurological abnormalities in LAS are common and that HIV may directly or indirectly be the cause.
Phenytoin does not block hippocampal long‐term potentiation or frequency potentiation
Authors: Stringer Janet L. , Lothman Eric W. 
Published: January 2005

AbstractRecently, a theoretical scheme offered mechanisms by which phenytoin exerts its antiepileptic effects. Two predictions arising from this proposal are that phenytoin would suppress alterations in the potency of excitatory neurotransmission engendered by repetitive neural activation and that this effect would be augmented by displacing the extracellular concentration of K+ ([K+]0) away from its normal resting level. In the present study, we tested these predictions by examining the effects of phenytoin on short‐ and long‐term functional plasticity in vitro in the hippocampus. Extracellular field potentials were recorded in the CA1 region of the rat hippocampal slice in response to stimulation of the Schaeffer collaterals. Phenytoin (20 μg/ml) did not affect baseline excitatory neurotransmission as measured by input‐output curves (population spike amplitude versus stimulus intensity) obtained at low stimulus rates. The drug also had no effect on either frequency potentiation (2.5 Hz) or long‐term potentiation (50 Hz, 500 msec; or 400 Hz, 20 msec). When [K+]0 was raised to levels seen during seizures, the drug still did not alter frequency potentiation or long‐term potentiation induced by either type of stimulus train. Phenytoin also had no effect on either stimulus‐locked or spontaneous epileptiform bursts that appear in conjunction with elevated [K+]0 or on stimulus‐locked bursts that appear in the presence of 0.75 mM extracellular calcium. These results, showing that certain forms of functional synaptic plasticity are not affected by phenytoin, suggest a means by which phenytoin could exert its antiepileptic action without interfering with normal brain function.