bluuebunny/crossref_metadata_2025_split huggingface dataset:
Inherited amyloid polyneuropathy type IV (gelsolin variant) in a Japanese family
Authors: Sunada Yoshihide , Shimizu Teruo , Nakase Hirofumi , Ohta Shigeo , Asaoka Tetsuo , Amano Shiro , Sawa Mitsuru , Kagawa Yasuo , Kanazawa Ichiro , Mannen Toru 
Published: January 2005

AbstractWe describe a Japanese family with familial amyloid polyneuropathy type IV. The family originates from central Japan, Nagano prefecture, and is unrelated to Finnish or other Caucasian populations. Of 42 members in three generations, 14 individuals (5 men, 9 women) are affected by corneal lattice dystrophy, cranial neuropathy, mild peripheral neuropathy, and skin changes. Polarizing microscopy and immunohistochemistry studies of skin biopsy samples demonstrated abundant amyloid deposits, which bound an antigelsolin monoclonal antibody. Direct sequence analysis of a DNA fragment spanning codon 187 of plasma gelsolin complementary DNA and restriction analysis using a modified polymerase chain reaction demonstrated a single base substitution, guanine to adenine, at nucleotide position 654, which is identical to the mutation in Finnish familial amyloid polyneuropathy type IV. This strongly suggests that the mutation causes the familial amyloid polyneuropathy type IV phenotype regardless of ethnic background.
Plasma and cerebrospinal fluid neurochemical pattern in Menkes disease
Authors: Kaler Stephen G. , Goldstein David S. , Holmes Courtney , Salerno Judith A. , Gahl William A. 
Published: January 2005

AbstractMenkes disease is a neurodegenerative disorder of copper metabolism. Because the enzyme dopamine‐b̃‐hydroxylase requires copper to catalyze the conversion of dopamine to norepinephrine, we reasoned that patients with Menkes disease would have a neurochemical pattern similar to that seen in patients with congenital absence of dopamine‐b̃‐hydroxylase, i.e., high levels of dopamine, the dopamine metabolite dihydroxyphenylacetic acid (DOPAC), and the catecholamine precursor dihydroxyphenylalanine (DOPA), and low levels of norepinephrine and its neuronal metabolite dihydroxyphenylglycol (DHPG). We measured plasma and cerebrospinal fluid (CSF) levels of catechols in 10 patients ranging in age from 9 days to 27 months. In contrast to patients with congenital absence of dopamine‐b̃‐hydroxylase, norepinephrine levels were normal in plasma of 4 Menkes patients and in CSF of all 10 patients. However, the ratios of DOPA : DHPG and DOPAC : DHPG in plasma and CSF of Menkes patients were invariably increased beyond the ranges of control values. These neurochemical findings indicate partial deficiency of dopamine‐b̃‐hydroxylase in Menkes patients, with compensatory increases in catecholamine biosynthesis in sympathetic nerves and in the brain. Increased tyrosine hydroxylation and increased exocytotic release of norepinephrine may be responsible for preservation of plasma and CSF norepinephrine levels in Menkes patients. The abnormal neurochemical pattern, including high ratios of DOPA : DHPG and DOPAC : DHPG, may serve as a biochemical marker for Menkes disease and provide a baseline against which the influence of proposed therapies can be judged.
Individual patterns of functional reorganization in the human cerebral cortex after capsular infraction
Authors: Willer Cornelius , Ramsay Stuart C. , Wise Richard J. S. , Friston Karl J. , Frackwiak Richard S. J. 
Published: January 2005

AbstractWe have previously shown bilateral activation of motor pathways and the recruitment of additional motor areas in studies of groups of patients with recovery from motor stroke. We have now deveoloped a new positron emission tomographic technique to measure the changes in regional cerebral blood flow elicated duringsd a motor task in individual patients, relative to the cerebral activatuion found in normal subjects. The patterns of cerebral activation in each of 8 individual patients with capuslar lesion of the pyramidal tract and complete recovery from hemiplegia are described by compression with the pattern found in a representative sample of 10 normal subjects. We found a large ventral extension of the hand field of the contralateral (sensori)motor cortex in all patients with lesions of the posterior limb of the internal capsule. Greater activation than in normal subjects was found in varible combination of the supplementray motor areas, the insula, the frontal operculum, and the paterial cortex. Structures belonging to motor pathways ipsilateral to the recovered limb were also more activated in the patients than in normal subjects. However, additional activation of the ipsilateral (sensori)motor cortex was only found in the 4 patients who exhibited associated movements of the unaffected hand when the recovered hand performed the motor task. We conclude that recovery from motor stroke due to striatocapsular damage is associated with individually different patterns of functional reorganization of the brain. These patterns are dependent on the site of the subcortical lesion and the somatotopicorganization of the pyramidal tract, both of which may determine the precise poetntial for recovery of limb function following this type of brain injury.
Signal loss in the motor cortex on magnetic resonance images in amyotrophic lateral sclerosis
Authors: Ishikawa Kinya , Nagura Hiroshi , Yokota Tsukasa , Yamanouchi Hiroshi 
Published: January 2005

AbstractThree of 7 patients with amyotrophic lateral sclerosis had bilateral signal loss confined to the motor cortex on T2‐weighted magnetic resonance images. None of the control subjects had this abnormality. Although not present in every patient, this finding might reflect the primary pathological process of the motor cortex in amyotrophic lateral sclerosis.
Multifocal motor neuropathy: Response to human immune globulin
Authors: Chaudhry Vinay , Corse Andrea M. , Cornblath David R. , Kuncl Ralph W. , Drachman Daniel B. , Freimer Miriam L. , Miller Robert G. , Griffin John W. 
Published: January 2005

AbstractMultifocal motor neuroparrhy (MMN) is a progressive disorder producing asymmetrical weakness and muscle wasting. Case reports suggest that patients with MMN improve after cyclophosphamide therapy, but not after prednisone or plasmapheresis, Because MMN is likely to be immune mediated, we investigated the therapeutic response to human immue globulin (HIG) in an open, uncontrolled trial. Nine patients, ages 28 to 58 years, had chronic, progressive, asymmetrical, predominantly distral, limb weakness for 5 to 18 years, Sensation was normal, and reflexes were reduced asymmetrically. All had physiological evidence of multifocal motor demyelination with partial motor conduction block, and 7 had elevated serun titers of anti‐GMI IgM antibody. All patients were treated with HIG, 106 to 2.4 gm/ kg., given intravenously over 3 to 5 days. Strength inproved in all patients 3 10 days after treatment, with improvement peaking at 2 weeks and lasting for an average of 2 months. The range of functional improvement veried from dramatic to mild. The degree of partial motor conduction block was reduced, at least partially, in 7 to 8 patients. The serum anti‐GM1 antibody titers did not change. Repeated courses of HIG resulted in similar improvements. We conculde that HIg may be an effective therapy for patients with MMN.
Relationships between extrapyramidal signs and cognitive function in a community‐dwelling cohort of patients with Parkinson's disease and normal elderly individuals
Authors: Richards Marcus , Stern Yaakov , Mader Karen , Cote Lucien , Mayexu Richard 
Published: January 2005

AbstractThe relationship between extrapyramidal sign(DPS) severity and cognitive funcition was investigated in 184 patients with indiopathic Parkinson's disease (PD) and 301 normal elderly individuasls from a community‐dwelling cohort in northern Manhattan, New York City. Fifiy‐six of the patients with PD met criteria for dementia of the Diagnostic and Statistical Manual of Mental Disorders third edition, revised, and of the National Institute of Neurological and Communicative Disorders and Stroke‐Alzbeimer's Disease and Related Disorders Association. EPS were rated according to the Unified Parkinson's Disease Rating Scale. Cognitive function was assessed by neuropsychological rests of memory, orientation, abstract reasoning, language, construcion, and psychomotor speed. Significant associations were found between EPS and neuropsychological performance in PD partients without dementia. Yet EPS severity was unable to account for the pronounced cognitive impairment in PD dementia. Individuals in the normal group with subtle EPS, but withtout overt idiopathic PD, showed widespread cognitive changes, including imparment in most of the tests that differentiated PD patients from normal subjects. Prospective follow‐up of these individuals will determine whether this represents a preclinical stage of PD or constitutes an early manifestation of dementia.
A population‐based study of multiple sclerosis in twins: Update
Authors: Sadovnick A. D. , Armstrong H. , Rice G. P. A. , Bulman D. , Hashimoto L. , Party D. W. , Hashimoto S. A. , Warren S. , Hader W. , Murrary T. J. , Seland T. P. , Metz L. , Bell R. , Duquette P. , Gray T. , Nelson R. , Weinshenkar B. , Brunt D. , Ebers G. C. 
Published: January 2005

AbstractThis study is a 7.5 year follow‐up of a population‐based series of twins with multiple sclerosis (MS) whose mean age now exceeds 50 years. The twin pairs were identified through the Cabadian nationwide system of MS clinics and were drawn from a population of 5,463 patients. After 7.5 years, the monozygotic concordance rate increased from 25.9 to 30.8 an the dizygotic‐like sex concordance rate from 2.4 to 4.7%. These results are very similar to those of other population‐based studies and to our own modified replication twin date reported here. We interpret the data to mean that MS susceptibility is genetically influenced, and a single dominant or even a single recessive gene is unlikely to account for this effect. The difference in concordance rates suggests that at least two or more genes are operative. These date also have importatnt implications for the nature of the environmental effect(s) in MS susceptibility. Most monozygotic twins are discordant even after a correction for age and magnetic resonance imaging findings. This unabiguously demonstrates the powerful effect of nonberitable factors.
Epileptic seizures after subarachnoid hemorrhage
Authors: Hassan Djo , Schonck Rob S. M. , Avezaat Cees J. J. , Tanghe Hervé L. J. , Van Gijn Jan , Lugt Paul J. M. van der 
Published: January 2005

AbstractWe srudied predictive factors for the occurrence of epilepsy in 381 consecutive patients admitted within 72 hours after they had a subarachnoid hemorrhage from a reprued itracranial aneursym. Fits occurring in the presence of byponattremia or within 12 hours after the initial bleed, rebleeding, or aneurysm surgery were classifed as associated with these acute events and we did not regard these fits subsequent epileptic seizures. Thirty‐five patients (9%) had one or more epileptic seizures, 12 hours to 1,761 days after the initial bleed (median value, 18 days). The following variables were included in the analysis: sex age, history of hypertension, historyof cardiovascular disease, loss of consciousness at ictus, sum score on the Glasgow Coma Scale on admission, sum score for the amount of cisternal blood and and presence of intraventricular blood based on the initial computed tomography(CT) scan, occurrence of ictal seizures (seizures occurring within 12 hours after the onset), acute hydrocephalus, rebleeding, delayed cerebral ischemia, fluid intake, treatment with tranexamic acid, ventricular drainage, and aneurysm surgery. After multivariate analysis by means of Cox proportional hazards model with stepwise forward selection of the variables, a high cisternal blood score and rebleeding proved to be significantly related to epilepsy (hazard ratio = 2.06, p = 0.040; and hazard ration = 3.02 p = 0016), even after the exclusion of 28 patients who receive perioperative prophylactic anticonvulsant therapy (hazard ratio = 2.31, P = 0.022; and hazard ratio =3.65, p = 0.006, respectively). We conclude that the frequency of epilepsy after the occurrence of subarachnoid hemorrhage is substantial and that except for rebleeding and a high cisternal blood score on the intitial CT scan, none of the investigated variables, including the occurrence of epieptic seizures within the first 12 hours following the intial bleed, are related to epilepsy.
Magnetic resonsance imaging of the cauda equina in chronic inflammatory demyelination polyneuropathy
Authors: Crino Peter B. , Grossman Robert I. , Rostami Abdolmohamad 
Published: January 2005

AbstractWe report a patient with biopsy proven chromic inflammatory demyelinating polyneuropathy whose magnetic resonance imaging demonstrated abnormal enhancement of the cauda equina after administration of gadolinium. Enhancement may reflect alteration of the blood‐ nerve barrier seconday to inflammation. Magnetic resonance imaging of th cauda equina could be a useful adjunct in the early diagnosis of chronic inflammatory demyelinationg polyneuropathy.
Zidovudine treatment of the AIDS dementia complex: Results of a placebo‐controlled trial
Authors: Sidtis John J. , Gatsonis Constantine , Price Richard W. , Singer Elyse J. , Collier Ann C. , Richman Douglas D. , Hirsch Martin S. , Schaerf Frederick W. , Fischl Margaret A. , Kieburtz Karl , Simpson David , Koch Matthew A. , Feinberg Judith , Dafni Urania ,   The Aids Clinical Trials Group
Published: January 2005

AbstractThe efficacy of two doses of zidovudine was examined for the treatment of the acquired immunodeficiency syndrome (AIDS) dementia complex in a randomized, double‐blinded, placebo‐controlled trial conducted at nine study centers. For the initial 16 weeks, 40 subjects with mild to moderate AIDS dementia complex were randomized to one of three treatment arms: 400 mg of zidovudine five times daily, 200 mg of zidovudine five times daily, or placebo five times daily. After week 16, patients initially randomized to the placebo group were rerandomized to one of the two zidovudine treatment arms. The primary efficacy end point was improvement in performance on a battery of seven neuropsychological tests; the secondary end point was improvement on a protocol neurological evaluation directed at the cardinal features of the AIDS dementia complex. For the initial 16‐week period, average z scores based on the neuropsychological test battery revealed a significant improvement in the combined treatment groups compared to the placebo group; however, when the two treatment groups were compared separately to the placebo group, only the group receiving the higher zidovudine dose exhibited significant improvement. After rerandomization of the placebo patients to one of the two treatment arms at week 16, this group also showed significant improvement in the average neuropsychological z score by week 32. These results extend previous observations that indicate a therapeutic benefit of zidovudine for the treatment of AIDS dementia complex.
Analysis of autoantibody binding to 52‐kd paraneoplastic cerebellar degeneration–associated antigen expressed in recombinant proteins
Authors: Sakai Koichiro , Ogasawara Tomoko , Hirose Genjiro , Jaeckle Kurt A. , Greenlee John E. 
Published: January 2005

AbstractA 52‐kd neural antigen was reported to be recognized by anti‐Purkinje cell antibodies in serum of a patient with paraneoplastic cerebellar degeneration associated with uterine carcinoma. In this study, we demonstrate that this neural antigen is recognized by antibodies known as anti‐Purkinje cell antibody type I (PCAb Type I) and anti‐YO. The latter's antigen is reported to be specific for the 62‐ to 64‐kd antigen CDR62. Assuming that the 52‐kd and 62‐ to 64‐kd antigens share a common epitope(s) recognized by all of these antibodies, we examined the antigenic region on the 52‐kd protein by immunoblots with deletion fragment proteins of the recombinant 52‐kd protein. A major epitope was localized in the region of amino acid residues 94 to 133 of the 52‐kd protein, which is the site of a leucine zipper motif. The potential pathogenicity of PCAb Type I is discussed.
The clinical and topographic spectrum of cerebellar infarcts: A clinical—magnetic resonance imaging correlation study
Authors: Barth A. , Bogousslavsky J. , Regli F. 
Published: January 2005

AbstractWe studied 34 consecutive patients with non–mass‐producing cerebellar infarcts using a standard protocol of investigations including magnetic resonance imaging (MRI). We analyzed the topography of infarcts to determine the involved arterial territories and we correlated the findings with neurological dysfunction and potential causes of stroke. Sixteen patients had an infarct in the territory of the posterior inferior cerebellar artery (PICA); 2, in the territory of the anterior inferior cerebellar artery (AICA); 13, in the territory of the superior cerebellar artery (SCA); and 8 had junctional infarcts between the territories of the medial and lateral branches of the PICA or PICA/SCA territories. PICA or medial PICA territory infarcts were manifested by acute vertigo and truncal ataxia, while the patients with lateral PICA territory infarcts presented with unsteadiness, limb ataxia and dysmetria without dysarthria. Patients with infarcts in the AICA territory were characterized by limb and trunk ataxia associated with signs of lateropontine involvement. Patients with SCA territory infarcts presented with dysarthria, unsteadiness and/or vertigo, limb ataxia, and dysmetria. Cardiac embolism was the main cause of large infarcts in the territories of the PICA (8/16) or SCA (4/7). Multiple small infarcts were associated with vertebrobasilar atherosclerosis (8/12). These clinical–MRI correlations allow better definition of the topographic and etiological spectrum of cerebellar infarction, which was previously based on pathological studies in subjects with severe infarction.
Striatal hypometabolism distinguishes striatonigral degeneration from Parkinson's disease
Authors: Eidelberg D. , Takikawa S. , Moeller J. R. , Dhawan V. , Redington K. , Chaly T. , Robeson W. , Dahl J. R. , Margouleff D. , Fazzini E. , Przedborski S. , Fahn S. 
Published: January 2005

AbstractRegional and global metabolic rates for glucose were estimated using 18F‐fluorodeoxyglucose and positron emission tomography in 10 patients with a clinical likelihood of striatonigral degeneration (2 men and 8 women; mean age, 61.8 ± 6.9 years; mean disease duration, 4.7 ± 2.2 years; mean Hoehn and Yahr score, 3.5 ± 0.8). Measures of brain glucose metabolism in these patients were compared with those for 10 age‐matched normal volunteers, 10 disease severity–matched patients with Parkinson's disease(PD), and 10 disease duration–matched patients with PD. Normalized glucose metabolism was significantly reduced in the caudate(p < 0.03) and putamen (p < 0.003) as compared with that in normal and PD control subjects, and discriminated patients with striatonigral degeneration from control subjects (p < 0.002). Putamenal hypometabolism in patients with striatonigral degeneration correlated significantly with quantitaive ratings of motor disability (p < 0.02). These results suggest that quantitative 18F‐fluorodeoxyglucose positron emission tomography techniques may be useful in supporting a diagnosis of striatonigral degeneration in life, and in objectively assessing disease severity and potential therapeutic interventions.
Clinical determinants of dememtia related to stroke
Authors: Tatemichi T. K. , Desmond D. W. , Paik M. , Figueroa M. , Gropen T. I. , Stern Y. , Sano M. , Remien R. , Williams J. B. W. , Mohr J. P. , Mayeux R. 
Published: January 2005

AbstractAmong 251 patients examined 3 months after the onset of acute ischemic stroke, we diagnosed dementia in 66(26.3%) by using modified DSM‐III‐R criteria based on neuropsychological, neurological, functional, and psychiatric examinations. We uses a logistic regression model to derive odds rations(ORs) for clinical factors independently related to dementia in this cross‐sectional sample. Dementia was significantly associated with age, education, and race. A history of prior stroke (OR= 2.7) and diabetes mellitus (OR=2.6) was also independently related to dementia, but hypertension and cardiac disease were not. Stroke fearures associated with dementia included lacunar infarction compared with all other subtypes combined (OR=2.7) was also independently related to dementia, but hypertension and cardiac disease were not. Stroke features associated with dementia included lacunar infarction compared with all other subtypes combined (OR= 2.7) and hemisphetic laterality in relarion to brainstem or cerebellar location. There was a predominance of dementia in patients with left‐sided lesions(Or‐4.7), an effect not explained by aphasis. Dementia was especially common with infarctions in the left posterior cerebral and anterior cerebral artery territories. A major dominant hemispheral syndrome (reflecting size and laterality) was also independently associated with dementia (OR=3.9). We suggest that dementia after ischemic stroke is a result of multiple independent factors, including both small subcrtical and large cortical infarcts especially involving the left medial frontal and temporal regions, with additional contributions by demographic and vascular risk factors.
Elevated serum levels of tumor necrosis factor‐α in Guillain‐Barré syndrome
Authors: Sharief M. K. , McLean B. , Thompson E. J. 
Published: January 2005

AbstractActivated T lymphocytes and macrophages play a putative role in the pathogenesis of Guillian‐Barré syndrome. Both cell types secrete tumor necrosis factor‐α, a cytokine that has well‐recognized toxi effects on myelin, Schwann cells, and endothelial cells. We determined serum and cerebrospinal fluid concentrations of tumor necrosis factor α in 26 patients with Guillain‐Barré syndrome, 27 patients with other polyneuropathies, 30 patients with neurological diseases of the central nervous system, and 14 helthy control subjects. Markedly increased serum levels were detected in 14 patients(54%) with Guillian‐Barré syndrome and to a significantly lesser extent, in patients with other polyneuropathies (26%) and in neurological control subjects(23%). Tumor necrosis factor‐α was not detected in the cerebrospinal fluid of patients with Guillain‐Barré syndrome or other polyneuropathies. Increased serum concentrations in patients with Guillain‐Barré syndrome or other polyneuropathies. Increased serum concentrations in patients with Guillain‐Barré syndrome correlated directly with disease severity and these concentrations returned to normal in parallel with clinical recovery. These findings emphasize the complexity of the immune response in patients with Guillain‐Barré syndrome and suggest that tumor necrosis factor‐αL may be important in the pathogenesis of peripheral demylination in this disorder.