bluuebunny/crossref_metadata_2025_split huggingface dataset:
No evidence for spumavirus or oncovirus infection in relapsing–remitting multiple sclerosis
Authors: Svenningsson Anders , Lycke Jan , Svennerholm Bo , Gronowitz Simon , Andersen Oluf 
Published: January 2005

AbstractPolymerase chain reaction analysis was used to investigate the possible role of human spumaretrovirus and oncoretroviruses (human T‐cell lymphotropic virus types I {HTLV‐I} and II {HTLV‐II}) in multiple sclerosis. Eleven patients with relapsing‐remitting multiple sclerosis in exacerbation and 11 normal blood donors were included in the study. Cerebrospinal fluid cells, peripheral blood mononuclear cells, and plasma were cocultured with allogeneic mononuclear cells for 6 weeks. Cultured cells were subjected to polymerase chain reaction analysis with primers selected for the pol and gag (human spumaretrovirus), pol and env (HTLV‐I), and pol (HTLV‐II) genes. Polymerase chain reaction was negative in all patient and blood donor control samples, whereas positive controls were consistently reactive with high sensitivity. No culture exhibited cytopathic effects and supernatants were negative for reverse transcriptase activity. Thus, our results do not support a role for these retroviruses in the pathogenesis of multiple sclerosis.
Using gadolinium‐enhanced magnetic resonance imaging lesions to monitor disease activity in multiple sclerosis
Authors: McFarland Henry F. , Frank Joseph A. , Albert Paul S. , Smith Mary E. , Martin Roland , Harris Jonathan O. , Patronas Nicholas , Maloni Heidi , McFarlin Dale E. 
Published: January 2005

AbstractThe highly variable clinical course and the lack of a direct measurement of disease activity have made evaluation of experimental therapies in multiple sclerosis (MS) difficult. Recent studies indicate that clinically silent lesions can be demonstrated by magnetic resonance imaging (MRI) in patients with mild relapsing‐remitting MS. Thus, MRI may provide a means for monitoring therapeutic trials in the early phase of MS. We studied 12 patients longitudinally for 12 to 21 months with monthly gadolinium (Gd)‐enhanced MRIs. The data have been used to identify the most effective design of a clinical trial using Gd‐enhanced lesions as the outcome measure. Frequent (>1/mo) Gd‐enhancing lesions were observed in 9 of the 12 patients, indicating that the disease is active even during the early phase of the illness. The frequency of the lesions was not constant; there was marked fluctuation in lesion number from month to month. However, the magnitude of the peak number of lesions and the frequency of the peaks varied among patients. Because of this variability, the most effective use of Gd‐enhancing lesions as an outcome measure in a clinical trial was a crossover design with study arms of sufficient duration to allow accurate estimation of lesion frequency. Monitoring Gd‐enhancing lesions may be an effective tool to assist in the assessment of experimental therapies in early MS.
Early childhood hepatocerebral degeneration misdiagnosed as valproate hepatotoxicity
Authors: Bicknese Alma R. , May William , Hickey William F. , Dodson W. Edwin 
Published: January 2005

AbstractFour unrelated children were thought to have valproate‐associated hepatotoxicity. They presented with recurrent partial secondarily generalized status epilepticus and epilepsia partialis continua followed by mental and motor regression. Despite treatment with multiple antiepileptic medications, they continued to have seizures. After initiation of valproic acid (VPA), all 4 manifested liver failure within 3 months. Two of these children each had 1 sibling who was not exposed to VPA, but who developed the same clinical picture including liver failure. At the time of autopsy, all 6 children had similar neuropathological findings with focal areas of spongiosis and neuronal loss, diffuse gliosis, and Alzheimer type II cells. One VPA‐treated patient underwent a successful liver transplantation only to die from relentlessly progressive neurological deterioration. We propose that many of the reported patients with VPA‐associated hepatotoxicity represent undiagnosed patients with early childhood hepatocerebral degeneration, the Huttenlocher variant of Alpers' syndrome. This disease manifests by obstinate partial seizures, recurrent partial secondarily generalized status epilepticus, epilepsia partialis continua, psychomotor deterioration, and hepatic dysfunction that is exacerbated by VPA administration. The accelerated demise from liver failure in the nontransplanted patients before the central nervous system pathology fully evolves makes the diagnosis of this rare condition difficult. The occurrence of disease in the unexposed siblings suggests recessive inheritance.
Temporal lobectomy for uncontrolled seizures: The role of positron emission tomography
Authors: Theodore William H. , Sato Susumu , Kufta Conrad , Balish M. B. , Bromfield E. B. , Leiderman Deborah B. 
Published: January 2005

AbstractWe evaluated the role of positron emission tomography (PET) with [18F]deoxyglucose (FDG) (FDG‐PET) for planning surgery in 53 patients who had temporal lobectomy for uncontrolled seizures at the National Institutes of Health from 1981 to 1990. Investigators blinded to PET data used results of telemetered video‐electroencephalographic ictal monitoring and other standard criteria to decide whether subdural electrodes (22 patients, i.e., the “invasive” group) should be implanted or surgery performed. PET scans were analyzed using a standard regional template. Mean lateral but not mesial temporal asymmetry was significantly higher in patients who became seizure free (p < 0.03). Patients with ≤ 15% hypometabolism were significantly more likely to be seizure free in the entire study population and the invasive subgroup. Visual identification of hypometabolism was less accurate. When a clear temporal ictal surface electroencephalographic focus was present, FDG‐PET provided less additional information. FDG‐PET may be particularly valuable if the surface electroencephalographic scan is nonlocalizing. In addition to helping to identify the seizure focus, it may allow limitation of invasive electrode placement to those necessary for functional mapping. When PET is used to identify epileptic foci, quantitative measurements of asymmetry should be made.
Large focal tumor‐like demyelinating lesions of the brain: Intermediate entity between multiple sclerosis and acute disseminated encephalomyelitis? A study of 31 patients
Authors: Kepes John J. 
Published: January 2005

AbstractThirty‐one patients with large, focal cerebral demyelinating lesions are reported. Twenty‐four patients had solitary lesions and 7 had multiple foci, the latter apparently of identical age. The lesions presented clinically and radiologically as brain tumors (gliomas or metastases) or as multiple cysts. Six patients were older than 57 years (2 in their 70s) at the onset of their symptoms. The demyelinating nature of the lesions was established through biopsy in each patient and all improved significantly after corticosteroid therapy. Three patients developed additional lesions during the follow‐up periods ranging from 9 months to 12 years consistent with the course of multiple sclerosis. Twenty‐eight patients did not develop additional lesions. These included 6 patients with multiple lesions at the onset. In 1 of the patients, the first symptoms developed 10 days after receiving vaccination against influenza. Two patients had concomitant malignancy (chronic monomyelogenous leukemia and retroperitoneal seminoma respectively) and 1 patient developed immunoblastic sarcoma in the opposite hemisphere after biopsy diagnosis and steroid treatment of her demyelinating lesion. Tumor‐like masses of demyelination may occupy an intermediate position between multiple sclerosis and postinfectious/postvaccination encephalitis. The clinical course (history of vaccination in one instance, acute onset, good response to corticosteroids, no clinical or radiological evidence of new lesions in the great majority of patients) favored postinfectious/postvaccination encephalitis. Lesion size however greatly exceeded that of the small foci of perivenous demyelination seen in typical postinfectious/postvaccination encephalitis and tended to present as space‐occupying masses.
Multiple sclerosis: Remyelination of nascent lesions: Remyelination of nascent lesions
Authors: Prineas J. W. , Barnard R. O. , Kwon E. E. , Sharer L. R. , Cho E.‐S. 
Published: January 2005

AbstractThe relationship between plaque pathology and disease duration was examined in 15 patients with multiple sclerosis who died early in the course of their illness. Myelin‐stained sections revealed that most plaques examined in patients who died during the first month of their illness showed evidence of ongoing myelin destruction accompanied by a loss of oligodendrocytes. Plaques containing large numbers of oligodendrocytes were not observed in these patients, but were relatively common in patients who died more than 1 month after clinical onset. Remyelination affecting more than 10% of the plaque area was observed in 3 of 82 plaques in 5 patients who died within 10 weeks of clinical onset, in 38 of 105 plaques in 5 patients who died 3 to 10 months after clinical onset, and in 19 of 92 plaques in 5 patients who died 18 months or longer after clinical onset. The study provides new evidence that both oligodendrocytes and myelin are destroyed in new lesions, that this activity ceases completely in many lesions within a few weeks, and that remyelination frequently ensues following repopulation of the plaque by oligodendrocytes. The findings suggest that new lesions normally remyelinate unless interrupted by recurrent activity and that remyelinated shadow plaques are the outcome of a single previous episode of focal demyelination.
“Signing tics”—insights into the pathophysiology of symptoms in Tourette's syndrome
Authors: Lang Anthony E. , Consky Earl , Sandor Paul 
Published: January 2005

AbstractWe describse the case of a young woman with Tourette's syndrome who incorporated sign language into her tic behavior. Sign language was used in complex “phonictic” such as swearing, echoing what others said, or repeating what she said, read, or thought. We suggest the descriptive terms “coprolaliopraxia,” “echolaliopraxia,” and “palilaliopraxia” to denote these symptoms. The incorporation of such complex, learned movements into the repertoire of hyperkinesias further emphasizes the complicated association between purposeful and automatic execution of movements comprising tic behavior. This case also provides strong evidence against the suggestion that obscenities vocalized in Tourette's syndrome are due to a random generation of high‐probability sequences of letters or phonemes.
Risk factors for late‐ onset Alzheimer's disease: A population‐ based, case‐control study
Authors: Fratiglioni Laura , Ahlbom Anders , Viitanen Matti , Winblad Bengt 
Published: January 2005

AbstractOur current Knowledge of risk factors for Alzheimer's disease is limited and primarily addresses early‐onset disease. This study aimed to determine the risk factors for late‐onset Alzheimer's disease using a case‐control approach. Ninetyeight case and 216 controls were gathered from an ongoing population survey on aging and dementia in Stockholm (the Kungsholmen Project). We found a high relative risk (3.2;95% confidence interval, 1‐8‐5.7) with the presence of at least one first‐degree relative affected by dementia. Among all the other risk factors, alcohol abuse (relative risk, 4.4; 95% confidence interval, 1.4–13.8) and manual work (relative risk for men of 5.3; 95% confidence interval, 25.5) emerged as positively associated. No clear association was found with a family history of Parkinson disease, advanced parental age at index delivery, season of birth, or previous head trauma. In conclusion, our date suggest the the main risk factor for late‐onser alzheimer's disease is a family history of dementia, as has been previously reported for early‐onset disease. Moreover, alcohol abuse and occupational exposure might play a specific role for this from of the disease.
Increased mitochondrial DNA in blood vessels and ragged‐red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS)
Authors: Tokunaga Makoto , Mita Shuji , Sakuta Ryoichi , Nonaka Ikuya , Araki Shukuro 
Published: January 2005

AbstractUsing in situ hybridization, we studied muscle hiopsy specimens from 4 patients with mitochondrial myoparthy, encephalopathy, lactic acidosis, and stroke‐like episodes (MELAS). Three of the 4 prients with MELAS had a mutation at position 3243 of mitochondrial DNA (mt DNA) in the transfer RNA leu(UUR) gene, and the other patient had a mutation at position 3271 in the same transfer RNA leu(UUR)gene. Quantitative analysis using Southern blot hybridization and polymerase chain reaction showed 80 to 90% mutant mtDNA in muscle. In situ hybridization analysis showed that total mtDNAs (both normal and mutant) ware extremely increased in blood vessels with high succinate dehydrogenase activity (strongly succinate dehydrogenase‐reactive blood vessels) and ragged‐red fibers. Cytochrome oxidase activity in most of these reactive blood vessels and ragged‐red fibers was positive. The similar morphological behavior in these vessels and fibers suggests that an increase in mutant mtDNA is responsible for mitochondrial proliferation and dysfunction in both tissues where cytochrome c oxidase is not a primarily defective enzyme. The pattern of expression of genes of mtDNA‐encoded ribosomal RNA and the protein coding region cytochrome c oxidase subunit II were similar in muscle specimens of patients with MELAS, patients with chronic progressive external ophthalmoplegia, and normal control subjects, and also between the two MELAS mutations. These results do not support the hypothesis that impaired transcription termination is a molecular defect in MELAS.
Ocular torsion and tilt of subjective visual vertical are sensitive brainstem signs
Authors: Dieterich Marianne , Brandt Thomas 
Published: January 2005

AbstractDeviations of the position of the ey in the roll plance, ocular trosion (OT), and the subjective visual vertical (SVV) wre systematically studied in 111 patients with acure vascular brainstem lesions. Of the 111 partents, 104 (94%) showed a direction‐specific pathological tilt of the static SVV in our series, Sevenry‐one (83%) of 86 partients exhibited pathological static OT of one (47%) or both (36%) eyes. OT and SVV tilts are therefore sensitive signs in acture unilateral brainstem disorders. Measurements of SVV and OT may prove to be useful components of the neuroophthalmological evaluation. With respect to the directions of pathological tilt, SVV an OT are generally in the same direction. Based on neuroimaging, we conclude that all unilateral brainstem lesion caudal to the upper pons cause ipsiversive Ot of one or both eyes, with concurrent ipsiversive tilts of SVV adjustments; all lesions rostral to this pontine level cause Contraversive tills of OT and SVV. Evidence is presented that pathological tilts of OT and SVV are secondary to a dysfunction of the tonic bilateral vestibular imputs that stabilize the eyes and head in normal upright position in the roll plance and dominate our perception of verticality.
Loss of C1 and C3 epinephrine‐synthesizing neurons in the medulla oblongata in parkinson's disease
Authors: Gai W.‐P. , Geffen L. B. , Denoroy L. , Blessing W. W. 
Published: January 2005

AbstractWe used immunohistochemical analysis to determine whether medulla oblongata neurons containing phenylethanolamine N‐methyltransferase (PNMT) are affected in patients who died with idiopathic Parkinson's disease (n = 7) compared with age‐matched control subjects who died with nonneurological diseases (n = 8). Transverse sections (50μm) of medulla were prepared either for conventional neuropathological examination or for the immunohistochemical demonstration of PNMT. Immunopositive neurons at approximately 30 rostrocaudal levels, evenly spaced throughout the whole medulla, were mapped and cells in each section were counted with a camera lucida system linked to a computer. In the ventrolateral medulla, from the level of the obex to 11 mm rostral to the obex where the C1 group of neurons is located, there were 7,631 ± 844 PNMT‐positive neurons in control brains and 3,604 ± 1,051 in brains affected by Parkinson's disease (47% of control). Many PNMT‐positive neurons contained Lewy bodies. We observed a previously undescribed midline (C3) group of PNMT‐positive neurons in normal brains, and this group was also severely affected (12% of control) in parkinsonian brains. Neither the C2 group nor the small PNMT‐positive neurons in the nucleus tractus solitarii were significantly reduced in numbers but there was a reduction in the numbers of melanin‐pigmented cells in both the ventrolateral (50% of control) and the dorsomedial (79% of control) region. Our results demonstrate a selective loss of C1 and C3 PNMT‐positive neurons, providing the first quantitative evidence for damage to these presumed brainstem sympathetic premotor neurons in Parkinson's disease. These changes may underlie some of the autonomic symptoms occurring in this condition.
Association of a monoamine oxidase B allele with Parkinson's disease
Authors: Kurth Janice H. , Kurth Matthias C. , Poduslo Shirley E. , Schwankhaus John D. 
Published: January 2005

AbstractMonoamine oxidase B(MAO‐B) is implicated in the cause of Parkinson's disease(PD) because of its role in metabolizing the neurotoxin 1‐methyl–4‐phenyl–1,2,3,6‐tetrahydropyridine, and forming H2O2 during dopamine metabolism. Altered MAO‐B activity has been observed in PD platelets. Polymerase chain reaction was used to amplify a portion of the MAO‐B gene. Polymerase chain reaction products were screened with restriction enzymes to identify fragments useful for single‐stranded conformational polymorphism analysis. A single‐stranded conformational polymorphism was identified in an MAO‐B polymerase chain reaction product after Hae III digestion. One hundred twenty‐one control individuals were allelotyped with frequencies of 0.45 and 0.55 for alleles 1 and 2, respectively. Frequencies of 0.62 and 0.38 (1 and 2, respectively) were observed in a population of 46 patients with PD. The presence of MAO‐B allele 1 is associated with a relative risk for PD of 2.03‐fold (confidence interval, 1.44–2.61; p < 0.02). For comparison, a monoamine oxidase A polymorphism was used to determine allelic frequencies in these same populations and no statistically significant differences were found. These results suggest that an inherited variant of MAO‐B may be involved in a genetic predisposition for PD.
Maple syrup urine disease: Metabolic decompensation monitored by proton magnetic resonance imaging and spectroscopy
Authors: Felber S. R. , Sperl W. , Chemelli A. , Murr Ch. , Wendel U. 
Published: January 2005

AbstractMetabolic decompensation of maple syrup urine disease in a 3.5‐year‐old boy was monitored by means of proton magnetic resonance imaging and spectroscopy. In the acute stage, imaging showed diffuse cerebral edema. Proton spectra showed an elevation of lactate and a previously unassigned resonance at 1 ppm. This peak disappeared with normalization of branched‐chain amino acids and oxoacids in the plasma and cerebrospinal fluid. In vitro spectroscopy of these metabolites at 1.5 T confirmed the chemical shift position of their methyl resonances at 1 ppm. The duration of lactate elevation correlated with the presence of brain edema and coma. These results demonstrate that magnetic resonance imaging can monitor therapeutic effects, and suggest that proton spectroscopy can detect cerebral accumulation of branched‐chain amino acids and oxoacids in maple syrup urine disease.
X‐linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course
Authors: Arts W. F. M. , Loonen M. C. B. , Sengers R. C. A. , Slooff J. L. 
Published: January 2005

AbstractAn X‐linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five‐generation family is described. The 12 affected boys had early‐onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and areflexia. Eleven boys died before the age of 5 years. One boy is still alive at the age of 12 years, but in addition to the above‐mentioned signs, he must be ventilated at night and is nearly blind due to optic atrophy. In the only patient whose central nervous system could be examined at the time of autopsy, an almost complete absence of myelin in the posterior columns of the spinal cord was found. This may be the main pathological substrate for the neurological findings. No biochemical or immunological defects were detected. The family also counted 16 healthy male siblings and 13 definite of 28 possible female carriers. Some carriers developed a hearing impairment in early adulthood. As far as is known now, this disease has not been described before.
Systemic histiocytosis presenting as multiple sclerosis
Authors: Smith M. E. , Katz D. A. , Harris J. O. , Frank J. A. , Kufta C. V. , McFarlin D. E. 
Published: January 2005

AbstractA Patient resembling one with progressive multiple sclerosis in clinical presentation and by magnetic resonance imaging was studied in detail. Some features atypical for multiple sclerosis prompted a persistent search for an alternative cause. The diagnosis of a non‐Langerhans systemic histiocytosis involving brain and bone was established and showed a partial response to radiation therapy. This patient illustrates the continued importance of a broad approach to the evaluation of possible multiple sclerosis, with particular attention to atypical features.
Increases levels of circulating intercellular adhesion molecule‐1 in multiple sclerosis and human T‐lymphotropic virus type I‐associated myelopathy
Authors: Tsukada N. , Miyagi K. , Matsuda M. , Yanagisawa N. 
Published: January 2005

AbstractWe evaluated the presence of soluble intercellular adhesion molecule‐1(slCAM‐1)antigen in the sera of patients with multiple sclerosis and human T‐lymphotropic virus type I(HTLV‐I)‐associated myelopathy (HAM) using an enzyme‐linked immunosorbent assay. Patients with multiple sclerosis in the active phase had higher sICAM serum levels than did control subject (p < 0.01). In addition, a significantly increased serum level of sICAM‐1 was found in patients with HAM ( p < 0.001). Furthermore, we found a positive correlation with HAM sICAM‐1 and tumor necrosis factor‐α levels in the sera of patients with multiple sclerosis in the active phase (=0.88, p < 0.01) and in those with HAM (r=0.86, p < 0.01). These results suggest that serum sICAM‐1 may be related to clinical activity in patients with multiple sclerosis and the detection of sICAM‐1 could be useful as a marker of inflammatory disease.
Coexistence of hereditary motor and sensory neuropathy type IA and IGM paraproteinemic neuropathy
Authors: Gregory R. , Thomas P. K. , King R. H. M. , Hallam P. L. J. , Malcolm S. , Hughes R. A. C. , Harding A. E. 
Published: January 2005

AbstractA patient with minimal motor dysfunction dating from early childhood developed more rapidly progressive distal weakness and positive sensory symptoms due to peripheral neuropathy in the fourth decade of life. DNA analysis showed the partial duplication of chromosome 17p associated with hereditary motor and sensory neuropathy type Ia. In addition, the patient had an IgM paraproteinemia and the typical morphological features of IgM paraproteinemic neuropathy on nerve biospsy.