bluuebunny/crossref_metadata_2025_split huggingface dataset:
The prevalence of computed tomographic abnormalities of the cerebrum in 100 consecutive children symptomatic with the human immune deficiency virus
Authors: DeCarli C. , Civitello L. A. , Brouwers P. , Pizzo P. A. 
Published: January 2005

AbstractQualitative analysis of 100 consecutive computed tomographic (CT) studies of the brain in children with symptomatic but untreated acquired immunodeficiency syndrome was performed. After excluding children with associated medical illnesses that might confound the diagnosis of encephalopathy or alter brain structure, an abnormality of at least one of the measures of ventricular size, cortical atrophy, white matter attenuation (leukoaraiosis), or cerebral calcification was found in 86% of the patients studied. Ventricular enlargement was the most common abnormality, followed by cortical atrophy, leukoaraiosis, and cerebral calcification. Cerebellar atrophy was an unexpected but relatively common finding in 12% of the children. Sixty‐five percent of the children were encephalopathic at the time of evaluation. All 16 children with cerebral calcification were encephalopathic and had acquired human immunodeficiency virus (HIV) through vertical transmission. Encephalopathic children were significantly younger and had significantly greater abnormality ratings on each CT measure when compared with the nonencephalopathic children. Discriminant analysis using age and the qualitative CT measures was applied as a method to identify the presence of encephalopathy. CT measures proved to have a specificity and a sensitivity of only 76%. We conclude that abnormalities of cerebral structure are seen in a high percentage of children symptomatic with HIV. Although most of the children are encephalopathic, CT abnormalities are seen in children without encephalopathy, suggesting presymptomatic brain disease. The presence of cerebral calcification on CT suggests in utero infection with HIV and the presence of encephalopathy. Although not diagnostic of encephalopathy, routine use of CT in pediatric patients with acquired immunodeficiency syndrome may add significant additional information about the mode of HIV transmission and potential presymptomatic brain disease.
Cortical vascular abnormalities in the syndrome of celiac disease, epilepsy, bilateral occipital calcifications, and folate deficiency
Authors: Bye Annie M. E. , Andermann Frederick , Robitaille Yves , Oliver M. , Bohane T. , Andermann Eva 
Published: January 2005

AbstractThe pathological changes in the syndrome of celiac disease, folate deficiency, bilateral occipital calcifications, and intractable epilepsy have not been previously described. A child with this disorder had a field defect correlating with active lateralized epileptic discharges and asymmetrical lesions. After resection of the right occipital lobe she was seizure free for 4 years. A cortical vascular abnormality with patchy pial angiomatosis, fibrosed veins, and large jagged microcalcifications was found. These pathological abnormalities were similar though not identical to those found in the Sturge‐Weber syndrome.
Role of the left and right supplementary motor areas in memory‐guided saccade sequences
Authors: Gaymard B. , Rivaud S. , Pierrot‐Deseilligny C. 
Published: January 2005

AbstractSix right‐handed patients with a lesion affecting the left (3 patients) or right (3 patients) supplementary motor area were studied using single and sequential memory‐guided saccade paradigms. Accuracy of single saccades was preserved in both groups, compared to control subjects, and the chronology of saccade sequences was disturbed in the group with the left lesion but not in the group with the right lesion. The results suggest that neither side of the supplementary motor area is involved in spatial memory, and that the left supplementary motor area plays a greater role in motor sequencing than does the right supplementary motor area.
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome
Authors: de Vries D. Daniëlle , van Engelen Baziel G. M. , Gabreëls Fons J. M. , Ruitenbeek Wim , van Oost Bernard A. 
Published: January 2005

AbstractBy direct sequencing, we have discovered a novel heteroplasmic mutation (T←C) at nucleotide position 8993 in the mitochondrial ATPase 6 gene in a family with Leigh's syndrome. Another mutation in the same codon (T8993G) has been reported before in Leigh's syndrome. As these two mutations led to different amino acid substitutions, it provides strong evidence for the relevance of ATP synthase dysfunction in maternally inherited Leigh's syndrome.
Impairment of retinal increment thresholds in Huntington's disease
Authors: Paulus Walter , Schwarz Guntram , Werner Annette , Lange Herwig , Bayer Andreas , Hofschuster M. , Müller Norbert , Zrenner Eberhart 
Published: January 2005

AbstractWe have investigated detection thresholds for a foveal blue test light using a Maxwellian view system in 61 normal subjects, 19 patients with Huntington's chorea, 14 patients with Tourette's syndrome, and 20 patients with schizophrenia. Ten measurements were made: The blue test light (1 degree diameter, 500 msec duration) was presented either superimposed on a yellow adaptation field (5 degree diameter) or 500 msec after switching off this field (transient tritanopia effect). In both cases five different background intensities were presented. The only abnormality found was in patients with Huntington's chorea. During adaptation these patient's thresholds are significantly higher than normal (p<0.005). No change was found in the transient tritanopia effect. Huntington's disease causes degeneration of several different transmitter systems in the brain. Increment threshold testing allows for noninvasive investigation of patients and confirms the involvement of the retina in the degenerative process in Huntington's chorea.
Interictal indices of temporal seizure origin
Authors: Blume Warren T. , Borghesi Joanna L. , Lemieux John F. 
Published: January 2005

AbstractTwo studies assessed the value of temporal lobe interictal electroencephalographic (EEG) spikes and delta in indicating side of temporal epileptogenesis. The first study determined laterality of spikes/delta in awake recordings of 56 patients whose seizures all began unilaterally as proven by (1) EEG‐recorded seizures and (2) >90% improvement after lobectomy. Spikes of 52 (93%) and delta of 46 (82%) patients predominated or appeared exclusively ipsilateral to seizure origin. Neither predominated contralaterally in any patient. The second study investigated laterality of temporal seizures in a separate group of 156 patients with various side vs side spike or delta ratios on 1 to ≥4 awake recordings. Ninety‐nine of 104 patients (95%) with temporal spikes on four or more awake recordings had most or all seizures ipsilateral to most spikes, including 79 of 80 (99%) of those with ≥3 side vs side spike ratios. Among the 120 patients with high (≥3) side vs side spike ratios, most or all seizures of 118 (98%) originated ipsilateral to most spikes. Predominant seizure origin also correlated with lateralized arrhythmic delta—from 90% ipsilateral seizures of those with one EEG with delta to 100% with ≥4 such EEGs. Data from these two studies using opposite directions of analysis (seizures ← spikes/delta and spikes/delta → seizures) demonstrate high correlations between laterality of interictal and ictal entities, particularly if temporal spikes clearly predominate on one side and if unilateral temporal delta activity persists over several recordings. Such correlations suggest that the awake interictal scalp EEG cannot be ignored when assessing laterality of temporal epileptogenesis.
Autosomal dominant Lewy body parkinsonism in a four‐generation family
Authors: Waters C. H. , Miller C. A. 
Published: January 2005

AbstractWe report a family with autosomal dominant parkinsonism. The propositus developed parkinsonism at a relatively young age (45 years) and came to autopsy after a 6‐year illness. She had typical features of Parkinson's disease except for an absence of rest tremor, although this was present in other family members. A diagnosis of Lewy body parkinsonism was confirmed by neuropathological examination. Additional pathological features included the presence of cortical Lewy bodies and anti‐ubiquitin‐positive neurites in the cornu Ammonis 2 and 3 (CA2‐3) region of the hippocampus. This kindred is similar both clinically and pathologically to a few previously reported pedigrees, further strengthening recent evidence of a genetic etiology of some forms of Parkinson's disease.
Long‐latency event‐related potentials in asymptomatic human immunodeficiency virus type 1 infection
Authors: Connolly Sean , Manji Hadi , McAllister Ruth H. , Fell Mary , Loveday Clive , Kirkis Chris , Herns Mary , Sweeney Brian , Sartawi Omar , Durrance Pauline , Griffin Geraldine B. , Boland Mary , Fowler Clare J. , Newman Stanton P. , Weller Ian V. D. , Harrison Michael J. G. 
Published: January 2005

AbstractAs part of the Medical Research Council prospective study of the neurological and neuropsychological complications of human immunodeficiency virus (HIV) infection, long‐latency event‐related potentials were recorded in a cohort of homosexual and bisexual men. The latencies and amplitudes of the potentials, recorded from three scalp sites, were compared with the scores from neuropsychological tests of memory, attention, and concentration and with markers of immune function. The findings from 94 men were analyzed in the cross‐sectional study of whom 47 were HIV seropositive without symptoms or signs of HIV type 1 (HIV‐1) infection, 24 had progressed to the symptomatic stages of the disease, and 23 were persistently HIV seronegative. There were no consistently significant differences between the three subject groups in mean latencies and amplitudes of the P300 and N200 or in the numbers of abnormal P300 latencies. There were no significant correlations between either the neuropsychological tests scores or the immune measures (CD4 lymphocyte count and β2 microglobulin level) and the neurophysiological parameters. On repeated testing an average of 2 years later, there was no evidence of a significant trend towards deterioration in 30 HIV‐seropositive subjects who remained asymptomatic compared with 22 HIV seronegatives. These findings indicate that there is no neurophysiological evidence of cognitive dysfunction in the asymptomatic stages of HIV‐1 infection.
Spontaneous palpebromandibular synkinesia: A localizing clinical sign
Authors: Pullicino Patrick M. , Jacobs Lawrence , McCall Willard D. , Garvey Michael , Ostrow Peter T. , Miller Lucia L. 
Published: January 2005

AbstractIn the classical corneomandibular reflex (CMR), corneal stimulation elicits a bilateral eyelid blink and a brisk anterolateral jaw movement. We here describe 14 patients with a spontaneous palpebromandibular (eyelid–jaw) synkinesia (SPMS) in whom jaw movements, similar to those in CMR, regularly accompanied spontaneous eye blinks without an external corneal stimulus. Eleven of the patients with SPMS also had CMRs on corneal stimulation. Four patients had clinical and imaging evidence of brainstem lesions above the mid‐pons, 5 patients had autopsy or imaging evidence of both bilateral cerebral and upper brainstem lesions, and 5 patients had clinical or imaging evidence of bilateral cerebral dysfunction. Topical corneal anesthesia administered to patients who had both CMR and SPMS blocked the CMR but had no effect on the SPMS. In patients with both SPMS and CMR, measurements of latency from onset of orbicularis oculi electromyographic activity to onset of lateral pterygoid EMG activity, and mandibular kinesiography of jaw velocity and direction showed that the eyelid–jaw synkinesias of CMR and SPMS had similar characteristics. We conclude that SPMS is pathophysiologically the same as the eyelid–jaw synkinesia of CMR and both synkinesias originate centrally, probably in the pons. In CMR, the jaw movement is primarily related to the blink rather than the corneal stimulus, but corneal stimulation may be necessary to overcome a higher threshold for expression of the synkinesia than in patients with SPMS. Like CMR, SPMS emerges in patients with upper brainstem or bilateral cerebral lesions and SPMS may therefore be a useful localizing clinical sign.
Abnormality of the α‐ketoglutarate dehydrogenase complex in fibroblasts from familial Alzheimer's disease
Authors: Sheu Kwan‐Fu Rex , Cooper Arthur J. L. , Koike Kichiko , Koike Masahiko , Lindsay J. Gordon , Blass John P. 
Published: January 2005

AbstractTo test whether previously demonstrated reductions in the activity of the α‐ketoglutarate dehydrogenase complex (KGDHC) in Alzheimer's disease (AD) brain also occur in morphologically normal AD tissues, we examined KGDHC in cultured skin fibroblasts from patients with familial AD (FAD). KGDHC activity was reduced by 44% in the FAD cells (p < 0.002) from the 4 families studied, including a within‐kindred comparison of affected and escape subjects in the chromosome 14q24.3‐linked Nova Scotia kindred. The activities of several other glutamate‐ and glutamine‐metabolizing enzymes were normal in the FAD cells, as was the activity of another mitochondrial multienzyme dehydrogenase complex, that for pyruvate. Mixing experiments indicated that the abnormality of KGDHC activity in FAD fibroblasts was not due to an inhibitor or to excess protease activity. KGDHC is a complex of three proteins. Immunoblots for the E2k component under conditions of optimal protease inhibition revealed the expected 46‐kd species in both AD and non‐AD fibroblasts, but the patient cells also regularly contained an additional 29‐kd species that was absent or present in minimal amounts in the controls. Immunoblotting demonstrated no abnormalities in the E1k and E3 components. Other studies indicate that the human gene for E2k resides on chromosome 14q24.3, in a region associated with FAD in a number of families including the KGDHC‐deficient Nova Scotia kindred. The persistence of abnormalities in KGDHC and particularly in its E2k component in FAD fibroblasts indicates that abnormalities of this autosomally coded nuclear component are an intrinsic part of the AD process, and the possible role of this abnormality in the pathogenesis of AD is discussed.
Andersen's syndrome: Potassium‐sensitive periodic paralysis, ventricular ectopy, and dysmorphic features
Authors: Tawil Rabi , Ptacek Louis J. , Pavlakis Steven G. , DeVivo Darryl C. , Penn Audrey S. , Özdemir Coskun , Griggs Robert C. 
Published: January 2005

AbstractAndersen's syndrome is a clinically distinct form of potassium‐sensitive periodic paralysis associated with cardiac dysrhythmias. The subtle nature of the cardiac and dysmorphic features may delay the recognition of this syndrome and its potentially lethal cardiac dysrhythmias. The genetic defect in Andersen's syndrome is not genetically linked to other forms of potassium‐sensitive periodic paralysis and is probably distinct from the long QT syndrome locus.
Predictive value of induction of psychogenic seizures by suggestion
Authors: Lancman Marcelo E. , Asconapé Jorge J. , Craven William J. , Howard George , Penry J. Kiffin 
Published: January 2005

AbstractInduction by suggestion has previously been reported to be effective in the diagnosis of psychogenic seizures (PS). However, the sensitivity and specificity of this procedure has not previously been studied. Results of induction of PS by suggestion were analyzed in 93 patients with purely PS. The diagnosis of PS was based on the recording of a clinical event on video‐electroencephalography, the absence of clinical or electroencephalographic evidence of epilepsy, and the subsequent followup and withdrawal of anticonvulsants supporting the diagnosis of PS. A control group was composed of 20 patients with epilepsy in which induction was tried. Both groups were comparable for age, sex, and educational level. Induction was performed following a standardized protocol. The test was carried out placing a colored patch on the neck. The test was considered positive when the induced clinical events were typical, according to a witness familiar with the patient's seizures. Induction was positive in 72 of 93 cases with PS and in none with epilepsy. Sensitivity of this test for the diagnosis of PS was 77.4%, specificity 100%, positive predictive value 100%, and negative predictive value 48.7%.
Elevated basic fibroblast growth factor in the serum of patients with Duchenne muscular dystrophy
Authors: D'Amore P. A. , Brown R. H. , Ku P‐T. , Hoffman E. P. , Watanabe H. , Arahata K. , Ishihara T. , Folkman J. 
Published: January 2005

AbstractThe mechanism whereby dystrophin deficiency leads to excessive fibrosis and muscle degeneration is not known. The absence of dystrophin in skeletal muscle is associated with reduced plasma membrane stability as evidenced by elevated serum levels of the cytoplasmic enzyme creatine kinase. Basic fibroblast growth factor, a cytoplasmic polypeptide growth regulator that stimulates connective tissue synthesis, induces satellite cell proliferation, and suppresses myogenic differentiation, is made by skeletal muscle. We hypothesize that dystrophin deficiency leads to the constant release of basic fibroblast growth factor, which in turn contributes to fibrosis and muscle weakness by stimulating connective tissue and suppressing skeletal muscle differentiation. As an initial step in testing this hypothesis, we measured basic fibroblast growth factor in the serum of Duchenne muscular dystrophy patients. We found that whereas basic fibroblast growth factor was undetectable in the serum of normal individuals (n = 200), levels were elevated in 11 of 18 patients with Duchenne muscular dystrophy.
Myo‐leukoencephalopathy in twins: Study of 3243‐myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation
Authors: Degoul F. , Diry M. , Pou‐Serradell A. , Lloreta J. , Marsac C. 
Published: January 2005

AbstractTwo dizygotic twins with myopathy and leukoencephalopathy are described. The female twin had an incomplete from of MELAS syndrome (myopathy, encephalopathy, lactic acidosis, and strokelike episodes) with severe myopathy, epileptic seizures without strokelike episodes. The male twin presented clinical features exclusively of myopathy and subclinical leukoencephalopathy. The MELAS mitochondrial DNA point mutation (MELAS‐3243) was found by southern blot and polymerase chain reaction in muscle, skin fibroblasts, and blood of the female twin and was not detected in the skin fibroblasts nor in the blood of the mother, nor in any of the tissues tested in the male twin. The absence of mutation in male twin tissues raises questions about the pathogenetic significance of the mutation in this family.
Novel amyloid precursor protein gene mutation (codon 665Asp) in a patient with late‐onset Alzheimer's disease
Authors: Peacock M. L. , Murman D. L. , Sima A. A. F. , Warren J. T. , Roses A. D. , Fink J. K. 
Published: January 2005

AbstractAmyloid plaques in Alzheimer's disease contain β‐amyloid, encoded by portions of exons 16 and 17 of the amyloid precursor protein. The specific association of rare amyloid precursor protein mutations with some kindreds with early‐onset familial Alzheimer's disease suggests that specific abnormalities in amyloid precursor protein may contribute to the pathogenesis of Alzheimer's disease. Until now, there has been no evidence suggesting that amyloid precursor protein mutations could be involved in late‐onset or sporadic Alzheimer's disease. We used reverse transcription–polymerase chain reaction, denaturing gradient gel electrophoresis, and direct DNA sequencing to analyze amyloid precursor protein exons 16 and 17 from postmortem cerebellar samples from patients with histologically confirmed Alzheimer's disease and control subjects. We found a novel point mutation, substitution of cytosine for guanine, at nucleotide 2119 (amyloid precursor protein 770 messenger RNA transcript) in a patient with late‐onset Alzheimer's disease. This substitution deletes a BglII site and substitutes aspartate for glutamine at codon 665. Denaturing gradient gel electrophoresis analysis showed that this mutation was absent in 40 control subjects and 127 dementia patients. Whether this mutation is a rare but normal variant or contributes to the development of Alzheimer's disease is not known. The BglII restriction fragment length polymorphism enables investigators to determine the frequency of this polymorphism in normal subjects and Alzheimer's disease patients.
Cerebellar α‐Ketoglutarate dehydrogenase activity is reduced in spinocerebellar ataxia type 1
Authors: Mastrogiacomo Frank , Kish Stephen J. 
Published: January 2005

AbstractWe measured the activity of the thiamine pyrophosphate–dependent enzyme α‐ketoglutarate dehydrogenase complex in postmortem brain of 12 patients with the spinocerebellar ataxia type 1 form of olivopontocerebellar atrophy. α‐Ketoglutarate dehydrogenase complex activity measured in the absence of thiamine pyrophosphate was markedly reduced (−72%) in olivopontocerebellar atrophy cerebellar cortex. Decreased activity of this key rate‐limiting Krebs cycle enzyme could compromise cerebellar energy metabolism and excitatory amino acid synthesis and thereby contribute to the brain dysfunction of olivopontocerebellar atrophy.
Correlation of magnetization transfer ration with clinical disability in multiple sclerosis
Authors: Gass A. , Barker G. J. , Kidd D. , Thorpe J. W. , MacManus D. , Brennan A. , Tofts P. S. , Thompson A. J. , McDonald W. I. , Miller D. H. 
Published: January 2005

AbstractWe performed spin echo magnetic resonance imaging with and without application of an off‐resonance saturation pulse in 43 patients with multiple selerosis (MS), 10 age‐matched controls, and 4 elderly asymptomatic patients with the radiological diagnosis of small‐vessel disease. Magnetization transfer (MT) ration images were obtained from these. All MS subgroups (primary progressive, secondary progressive, benign, early relapsing–remitting) showed significantly lower average lesion MT ratios than small‐vessel disease patients. Secondary progressive MS patients showed significantly lower lesion MT ratios than those with benign disease, and there was an inverse correlaion of disability with average lesion MT ratio. The degree of reduction of MT ratios is an indicator of the extent of tissue destruction. Thus, reduced MT ratios in MS may provide an indication of the degree of demyelination and axonal loss, both of which are likely to cause functional deficits in MS. We conclude that MT measurement is (1) a robust quantitative method that may increase the pathological specificity of magnetic resonance imaging, (2) has the potential to differentiate demyelination in MS from less destructive pathological changes, and (3) may be useful in monitoring modifications in tissue structure brought about by treatment.
Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium?
Authors: Tsuda T. , Lopez R. , Rogaeva E. A. , Freedman M. , Rogaev E. , Drachman D. , Pollen D. , Haines J. , Liang Y. , McLachlan D. R. Crapper , Duara R. , St George‐Hyslop P. 
Published: January 2005

AbstractAllele frequencies for polymorphisms in the aplipoprotein E and the apolipoprotein CII genes were determined in subjects of Ashkenazi Jewish origin with lateonset Alzheimer's disease and in unaffected control subjects from the same ethnic group. A significant association was observed between late‐onset Alzheimer's disease and the ε4 (112Cys→Arg) allele of apolipoprotein E; however, no association was detected with apolipoprotein CII. These results suggest that the association with ε4 is probably not due to linkage disequilibrium.