bluuebunny/crossref_metadata_2025_split huggingface dataset:
Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I
Authors: Rivaud‐Pechoux Sophie , Dürr Alexandra , Gaymard Bertrand , Cancel Géaraldine , Ploner Christoph J. , Agid Yves , Brice Alexis , Pierrot‐Deseilligny Charles 
Published: January 2005

AbstractWe compared horizontal eye movements (visually guided saccades, antisaccades, and smooth pursuit) in control subjects (n = 14) and patients with three forms of autosomal dominant cerebellar ataxias type I: spinocerebellar ataxias 1 and 2 (SCA1, n = 11; SCA2, n = 10) and SCA3/Machado‐Joseph disease (MJD) (n = 16). In SCA1, saccade amplitude was significantly increased, resulting in hypermetria. The smooth pursuit gain was decreased. In SCA2, saccade velocity was markedly decreased. The percentage of errors in antisaccades was greatly increased and was significantly correlated with age at disease onset. In addition, a correlation between smooth pursuit gain and the number of trinucleotide repeats was found. In SCA3, gaze‐evoked nystagmus was often present as was saccade hypometria and smooth pursuit gain was markedly decreased. Three major criteria, saccade amplitude, saccade velocity, and presence of gaze‐evoked nystagmus, permitted the correct assignment of 90% of the SCA1, 90% of the SCA2, and 93% of the patients with SCA3 to their genetically confirmed patient group and, therefore, may help orient diagnose of SCA1, SCA2, and SCA3 at early clinical stages of the diseases.
Molecular mapping of alzheimer‐type dementia in Down's syndrome
Authors: Prasher V. P. , Farrer Matthew J. , Kessling Anna M. , Fisher Elizabeth M. C. , West R. J. , Barber P. C. , Butler A. C. 
Published: January 2005

AbstractPrevious research has hypothesized an association between Alzheimer's disease and the amyloid precursor protein (APP) gene found on chromosome 21. We report the case of a 78‐year‐old woman with Down's syndrome with partial trisomy 21 [46,XX,rec(21)dup q, inv(21) (p12q22.1)]. No evidence of Alzheimer's disease was found on neuropsychological, magnetic resonance imaging, and neuropathological assessment. The gene sequence for APP was present in only two copies. This case further supports the hypothesis that Alzheimer's disease is associated with trisomy for proximal chromosome 21q, including the APP gene.
In vivo PET Imaging in rat of dopamine terminals reveals functional neural transplants
Authors: Brownell Anna‐Liisa , Livni Eli , Galpern Wendy , Isacson Ole 
Published: January 2005

AbstractPositron emission tomography (PET) and carbon‐11‐labeled 2B‐carbomethoxy‐3B‐(4‐fluorophenyl)tropane (11C‐CFT or 11‐WIN 35,428) were used as molecular markers for striatal presynaptic dopamine (DA) transporters in a unilateral Parkinson's disease rat neurotransplantation model. In the lesioned striatum, the binding ratio measured by the DA presynaptic marker was reduced to 15% to 35% of the intact side (or unoperated control). After grafting with non‐DA cells (from dorsal mesencephalon), the DA binding ratio remained reduced to levels observed before transplantation and rats showed no behavioral recovery. In contrast, after DA neuronal transplantation, behavioral recovery occurred only after the 11C‐CFT binding ratio had increased to 75% to 85% of the intact side. This study provides direct in vivo evidence for the dopaminergic molecular basis of functional recovery in the lesioned nigrostriatal system after neural transplantation.
Primary position upbeat nystagmus due to unilateral medial medullary infarction
Authors: Hirose Genjiro , Ogasawara Tomoko , Shirakawa Tomoyasu , Kawada Jyunya , Kataoka Satoshi , Yoshioka Akira , Halmagyi G. Michael 
Published: January 2005

AbstractWe report on a patient who developed primary position upbeat nystagmus (ppUBN) due to a unilateral medial medullary infarction. On oculography, the slow phases of the nystagmus sometimes had an exponentially decreasing velocity waveform, indicating that the nystagmus was due to impairment of the vertical position‐to‐velocity neural integrator. On magnetic resonance imaging, the lesion was caudal to the vestibular nuclei and to the most rostral of the perihypoglossal nuclei, the nucleus intercalatus, a structure that was also involved in a previously reported case of ppUBN due to a unilateral medullary lesion. On the basis of these imaging and oculographic observations, we propose that a unilateral lesion of the nucleus intercalatus is sufficient to cause ppUBN and that the nucleus intercalatus is a part of the vertical position‐to‐velocity neural integrator in the human ocular–motor system.
Purified IgG from seropositive and seronegative patients with myasthenia gravis reversibly blocks currents through nicotinic acetylcholine receptor channels
Authors: Bufler Johannes , Pitz Roland , Czep Micheal , Wick Manfred , Franke Christian 
Published: January 2005

AbstractThe mechanism of block of nicotinic acetylcholine receptor (nAChR) channels by purified antibodies from patients with myasthenia gravis (MG) was investigated by using an ultrafast system for solution exchange at outside‐out patches. IgG of MG patients and controls was purified by using protein A–Sepharose columns. Probes from 9 seropositive MG patients and 3 seronegative MG patients were tested. As a preparation, cultured mouse myotubes expressing the embryonic‐type nAChR channels were used. Twenty‐millisecond pulses of 1.0 mM ACh were applied repetitively to outside‐out patches. Outside‐out patches were preexposed with IgG in concentrations between 0.1 and 200 mg/L during application of ACh pulses. The peak current amplitude was reduced to values between 6% and 71% of control for the 9 seropositive and 3 seronegative MG patients. The block was concentration dependent and fully reversible after washout of antibodies. Incubation with IgG from different control patients did not reduce the peak current amplitude. In addition, our findings with purified IgG from seronegative MG patients support the idea of the immunopathogenesis of this disorder and may allow the development of a diagnostic test for seronegative MG patients.
The role of type III collagen in spontaneous cervical arterial dissections
Authors: van Den Berg J. S. P. , Limburg M. , Kappelle L. J. , Pals G. , Arwert F. , Westerveld A. 
Published: January 2005

AbstractA case‐control study was carried out to investigate whether type III collagen deficiency plays a role in the pathogenesis of spontaneous cervical arterial dissections. In 16 patients with spontaneous cervical arterial dissections and in 41 healthy controls, protein analysis of type III collagen (ratio of type III/type I collagen) was performed. Futhermore, single‐stranded conformation polymorphism/heteroduplex analysis was used to investigate the type III collagen gene in the 16 patients with spontaneous cervical dissections to detect mutations. The ratios of type III/type I collagen in the controls ranged from 5.5 to 19.8% (median, 10%). The ratios of type III/type I collagen in the patients with spontaneous cervical arterial dissections ranged from 3.2 to 17.9% (median, 9.3%). Two patients had a low ratio of type III/type I collagen (<5.5%). No abnormalities suggesting a mutation in the gene of type III collagen were demonstrated in any of the 16 patients. Our findings are in keeping with the hypothesis that a reduced production of type III collagen may contribute to the formation of spontaneous cervical arterial dissections in some patients. The absence of a responsible mutation indicates that the coding sequence of the type III collagen gene is not involved.
Absence of transcallosal inhibition following focal mangnetic stimulation in preschool children
Authors: Heinen Florian , Glocker Franz‐Xaver , Fietzek Urban , Meyer Bernd‐Ulrich , Lücking Carl‐Hermann , Korinthenberg Rudolf 
Published: January 2005

AbstractFocal transcranial magnetic stimulation of the hand‐associated motor cortex was used to study normal healthy preschool children (n = 7; mean age, 4.6 years) and adults (n = 7; mean age, 29.4 years) under the conditions of standardized tonic voluntary contraction of small hand muscles. Callosally mediated inhibitory as well as corticospinally mediated inhibitory and excitatory motor effects were investigated. Although children had no detectable transcallosal inhibition, their corticospinally mediated postexcitatory silent period was present (mean, 140.8 ± 30.2 msec). It was significantly shorter then in adults (mean, 192.5 ± 32.0 msec). The motor thresholds of the cortically elicited muscle responses, measured as the lowest stimulus intensity, were significantly higher in children (mean, 89 ± 5%) than in adults (mean, 46 ± 6%). The corticomuscular latency of transcranially elicited motor responses revealed no difference between children and adults. These observations may reflect maturation processes in the motor system. Maturation of at least some direct corticospinal fibers occurs early in life and is followed by that of intracortical excitatory and inhibitory connections. The maturation of functionally competent callosal connections appears to occur after the age of 5 years.
Cyclooxygenase‐2 is induced globally in infarcted human brain
Authors: Sairanen Tiina , Ristimäki Ari , Karjalainen‐Lindsberg Marja‐Liisa , Paetau Anders , Kaste Markku , Lindsberg Perttu J. 
Published: January 2005

AbstractCyclooxygenase (COX) catalyzes synthesis of prostanoids after liberation of arachidonic acid, an important biochemical sequela of cerebral ischemia that aggravates brain injury. We investigated expression of inducible COX‐2 in infarcted human brains (symptom duration, 15 hours to 18 days) and found that COX‐2 protein was present in both neuronal and glial cells throughout the brain in accord with infarct topography and duration. These results emphasize the global yet temporally regulated nature of COX‐2 induction during focal ischemia in humans, clearly different from the circumscribed acute expression reported in experimental animal models. We speculate that early induction of COX‐2 may fuel tissue damage through prostanoids and free radicals, and delayed induction in remote brain areas may promote reconstitutive processes in the face of tissue scarring and remodeling of the surviving neural networks.
Descriptive epidemiology of Creutzfeldt‐Jakob disease in six european countries, 1993–1995
Authors: Will R. G. , Alperovitch A. , Poser S. , Pocchiari M. , Hofman A. , Mitrova E. , de Silva R. , D'Alessandro M. , Delasnerie‐Laupretre N. , Zerr I. , van Duijn C. ,   EU collaborative Study Group for CJD
Published: January 2005

AbstractAfter the occurrence of bovine spongiform encephalopathy (BSE), there has been concern that transmission of BSE to the human population might result in a change in the epidemiological characteristics of Creutzfeldt‐Jakob disease (CJD). A collaborative study of CJD in the European Union was performed from 1993 to 1995, to compare data from national registries for CJD in France, Germany, Italy, The Netherlands, Slovakia, and the United Kingdom. Five hundred seventyfive patients with definite or probable CJD died in the study period with an overall annual morality rate of 0.71 cases per million. The incidence rates for CJD were similar in all participating countries despite variations in postmortem rates, and age‐specific incidence rates were also relatively consistent, with the exception of an increased incidence of CJD in patients younger than 39 years of age in the United Kingdom. In relation to etiological subtypes of CJD, 87% of cases were sporadic, 8% genetic, and 5% iatrogenic. Genetic forms of CJD comprised 80% of all cases in Slovakia, and iatrogenic forms of CJD occurred most frequently in France and the United Kingdom. The statistical data reported here do not provide evidence of a causal link between BSE and CJD in Europe as a whole. However, the study has established baseline epidemiological parameters for CJD in participating European countries, which may be important in the assessment of any future change in the characteristics of CJD as a result of the epidemic of BSE.
N‐glycolylneuraminic acid–containing GM1 is a new molecule for serum antibody in Guillain‐Barré syndrome
Authors: Odaka Masaaki , Yuki Nobuhiro , Yoshino Hiide , Kasama Takeshi , Handa Shizuo , Irie Fumitoshi , Hirabayashi Yoshio , Suzuki Akemi , Hirata Koichi 
Published: January 2005

AbstractTo clarify the pathogenesis of Guillain‐Barré syndrome (GBS) after parenteral injections of bovine brain gangliosides, we searched for new molecules in bovine brain gangliosides recognized by sera from GBS patients. Gangliosides fractionated in a Q‐Sepharose column were used as the antigens, and the binding of serum IgG or IgM was examined by thin‐layer chromatography/immunostaining. Fourteen of 175 serum samples from the patients reacted with the monosialoganglioside fraction 2. In the neutral solvent system, a band in this fraction migrated with N‐acetylneuraminic acid‐containing GM1 [GM1(NeuAc)], whereas in the alkaline solvent system it migrated slower. This suggested that the band was N‐glycolylneuraminic acid‐containing GM1 [GM1(NeuGc)]. In both solvent systems, its mobility was almost the same as that of authentic GM1(NeuGc) from mouse liver. Secondary ion mass spectrometry showed that the ganglioside's structure was consistent with that of GM1(NeuGc). IgG anti‐GM1(NeuGc) antibodies in sera from the GBS patients were significantly absorbed by GM1(NeuAc), indicative that the anti‐GM1(NeuGc) antibodies cross‐react with GM1(NeuAc). N‐Glycolylneuraminic acid‐containing gangliosides are so highly immunogenic in humans that the injection of GM1(NeuGc) could induce the production of IgG anti‐GM1(NeuGc) antibody, which cross‐reacts with GM1(NeuAc).
Incidence of exacerbations in the first 90 days of treatment with recombinant human interferon β‐1b in patients with relapsing‐remitting multiple sclerosis
Authors: Khan Omar A. , Hebel J. Richard 
Published: January 2005

AbstractInterferon β‐1b (IFNβ1B) is effective in reducing the frequency of exacerbations in patients with relapsing‐remitting multiple sclerosis (RRMS). Recently, a study suggested that treatment with IFNβ‐1b may place MS patients at risk of exacerbations by increasing interfreon‐β (IFNγ) sereting cells in the blood early after onset of treatment. We conducted a retrospective study in 192 RRMS patients treated with IFNβ‐1b. We did not observe an increase in the frequency of exacerbations early after the onset of treatment and suggest that the IFNγ‐secreting cell surge linked to the onset of treatment with IFNβ‐1b may not be clinically significant.
Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles
Authors: Darin N. , Kyllerman M. , Wahlström J. , Martinsson T. , Oldfors A. 
Published: January 2005

AbstractWe describe a new myopathy in a large family with 19 affected cases. Inheritance was autosomal dominant. Characteristic clinical features were congenital joint contractures, which normalized during early childhood, external ophthalmoplegia, and proximal muscle weakness. Muscle atrophy was most prominent in the pectoralis and quadriceps muscles. The clinical course was nonprogressive in childhood, but most adult cases experienced deterioration of muscle function, starting from 30 to 50 years of age. The major histopathological change of skeletal muscle in childhood was focal disorganization of myofilaments. In adults with progressive muscle weakness, the muscle biopsies showed dystrophic changes and rimmed vacuoles with cytoplasmic and intranuclear inclusions of 15‐ to 21‐nm filaments. These findings suggests that this new disease should be classified as a variant of hereditary inclusion body myopathy.
Time course of corticospinal excitability in reaction time and self‐paced movements
Authors: Chen Robert , Yaseen Zaneb , Cohen Leonardo G. , Hallett Mark 
Published: January 2005

AbstractWe used transcranial magnetic stimulation (TMS) to study the time course of corticospinal excitability before and after brisk thumb abduction movements, either in a simple reaction time (RT) paradigm or self‐paced. Premovement increase in corticospinal excitability began about 20 msec earlier for self‐paced compared with simple RT movements. For both simple RT and self‐paced movements after electromyographic (EMG) offset, there was a first period of increased excitability from 0 to 100 msec, followed by a second period from 100 to 160 msec. Corticospinal excitability was decreased from about 500 to 1,000 msec after EMG offset for both types of movements. Our results show that motor preparation that begins 1.5 to 2 seconds before self‐paced movement is not associated with increased corticospinal excitability. The first phase of increased corticospinal excitability after EMG offset may be due to activity of motor cortex neuron subthreshold for activating spinal motor neurons, and the second phase may reflect a subthreshold second agonist burst. The period of decreased corticospinal excitability after movement corresponds to the onset of event‐related synchronization (ERS) of electroencephalographic signals in the 20‐Hz band, and supports the hypothesis that ERS may be related to an inactive, idling state of the motor cortex.
Predictive factors for prolonged survival in acquired immunodeficiency syndrome—associated progressive multifocal leukoencephalopathy
Authors: Berger Joseph R. , Levy Robert M. , Flomenhoft Deborah , Dobbs Michael 
Published: January 2005

AbstractProgressive multifocal leukoencephalopathy (PML) complicating the acquired immunodeficiency syndrome (AIDS) is typically inexorably progressive with death usually occurring within 6 months of symptom onset. Occasional patients have been observed to survive longer than 1 year, often with remission of clinical features. In this study, we identify predictive factors for prolonged survival in patients with biopsy proven, AIDS‐associated PML, by comparing 7 patients with survival exceeding 12 months from symptom onset with 45 patients with shorter survivals. PML was the presenting manifestation of AIDS in 5 (71.4%) of 7 long‐term survivors compared with 8 (17.8%) of 45 short‐term survivors. CD4 T‐lymphocyte counts were substantially higher in the long‐term survivors, with 3 (42.9%) of 7 having counts exceeding 300 cells/mm3 in comparison with only 1 (4.3%) of 23 short‐term survivors. Contrast enhancement on radiographic imaging was observed in 3 (50%) of 6 long‐term survivors in comparison with 4 (8.9%) of 45 short‐term survivors. Neurological recovery and radiographic improvement were not observed in any short‐term survivors but were seen in 5 (71.4%) long‐term survivors. There was no association between treatment modalities and survival. Predictors of long‐term survival in AIDS patients with PML include PML as the heralding manifestation of AIDS, high CD4 T‐lymphocyte count at disease onset, lesion enhacement on computed tomographic scan or magnetic resonance imaging, and evidence of recovery of neurological function.
Acute inflammatory demyelinating polyradiculopathy in children: Clinical and electrodiagnostic studies
Authors: Delanoe Catherine , Sebire Guillaume , Landrieu Pierre , Huault Gilbert , Metral Stéphane 
Published: January 2005

AbstractClinical and electrophysiological features in 43 children with acute inflammatory demyelinating polyradiculoneuropathy (AIDP) were retrospectively studied. More than one‐third of these children were less than 3 years old. Some distinctive clinical features specific to adults or to children were identified. Initial symptoms such as ataxia and severe limb or back pain were more frequent in children. By using the criteria suggested here, according to our neurophysiological findings, the diagnosis of AIDP could be proposed as early of the first days of illness in 90% of the children and is confirmed during the second week. The neurophysiological evolution was very similar in children and adults except that recovery occurred sooner in children. Prognosis was better in childhood (complete recovery in all but 2 patients with minor disabilities).
Dominant negative effect of GTP cyclohydrolase I mutations in dopa‐responsive hereditary progressive dystonia
Authors: Hirano Makito , Yanagihara Takehiko , Ueno Satoshi 
Published: January 2005

AbstractHerediatary progressive dystonia (HPD) is caused by the mutant gene encoding GTP cyclohydrolase I (GCH). The clinical presentation of this disease varies considerably, and many cases appear to be sporadic. We have previously proposed that this clinical variation may be due to differential expression of the mutant and normal GCH mRNA, presumably at the protein level. To provide support for this proposal, we studied a new Japanese family with HPD, in which 2 members were heterozygous for an exon‐skipping mutation. This mutation produced truncated GCH, which shared 180‐amino acid residues at the amino terminus of the normal enzyme (GCH180). An affected heterozygote had a higher mutant/normal mRNA ratio than an unaffected heterozygote, consistent with our previous finding in the HPD family with GCH114. A further study, using coexpression of the mutant with wild‐type GCH in COS‐7 cells, showed that three mutant GCHs inactivated the normal enzyme. GCH114 was most effective in enzyme inactivation, which was followed by GCH180 and a normally occurring mutant GCH209. These results suggested that the dominant negative effect of a mutant GCH on the normal enzyme might be one of the molecular mechanisms determining the heterogeneity of clinical phenotypes of HPD.
Somatotopical organization of striatal activation during finger and toe movement: A 3‐T functional magnetic resonance imaging study
Authors: Lehéricy Stéphane , van de Moortele Pierre‐François , Lobel Elie , Paradis Anne‐Lise , Vidailhet Marie , Frouin Vincent , Neveu Pascal , Agid Yves , Marsault Claude , Le Bihan Denis 
Published: January 2005

AbstractThe present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right‐handed healthy volunteers were studied by using a 3‐T whole‐body magnetic resonance unit and echo planar imaging. The tasks consisted of self‐paced flexion/extension of the right fingers or toes. Motor activation was found mainly in the putamen posterior to the anterior commissure (10 of 10 subjects) and the globus pallidus (6 subjects), whereas the caudate nucleus was activated in only 3 subjects, and in a smaller area. Thus, performance of a simple motor task activated the sensorimotor territory of the basal ganglia. Within the putamen, there was a somatotopical organization of the foot and hand areas similar to that observed in nonhuman primates. These data suggest that functional magnetic resonance imaging can be used to study normal function of the basal ganglia and should therefore also allow investigation of patients with movement disorders.