bluuebunny/crossref_metadata_2025_split huggingface dataset:
Variance of age at onset in a Japanese family with amyotrophic lateral sclerosis associated with a novel cu/zn superoxide dismutase mutation
Authors: Aoki Masashi , Abe Koji , Houi Kouji , Ogasawara Masahito , Matsubara Yoichi , Kobayashi Takaaki , Mochio Soichiro , Narisawa Kuniaki , Itoyama Yasuto 
Published: January 2005

AbstractAlthough about 5 to 10% of amyotrophic lateral sclerosis (ALS) cases are familial, the pathophysiology of ALS remians unknown. A new point mutation in exon 4 of the Cu/Zn superoxide dismutase (SOD) gene, resulting in an amino acid substitution of leucine84 by valine (L84V), in a Japanese patient with familial ALS (FALS) was identified. This L84V substitution was not observed in 57 normal Japanese control subjects. The enzymatic activities of Cu/Zn SOD of skin fibroblasts were significantly reduced to 75% of the control level in the affected patient. The progression of the disease with this mutation is very rapid, but the age at onset varies with sex or generation within a family.
Intracerebral involvement in scleroderma en coup de sabre: Report of a case with neuropathologic findings
Authors: Chung Marilda H. , Sum John , Morrell Martha J. , Horoupian Dikran S. 
Published: January 2005

AbstractLinear scleroderma en coup de sabre (LScs) is a rare disorder not infrequently associated with neurologic symptoms, notably epilepsy. However, histopathologic documentation of intracerebral lesions in LScs is very limited and the etiology of the central nervous system symptoms has therefore never been convincingly established. We describe a 27‐year‐old woman with LScs and a long‐standing history of epilepsy. Radiographic studies demonstrated a focal, intraparenchymal lesion in the left frontal lobe directly subjacent to the area of scleroderma on the forehead and scalp. The resected cerebral lesion revealed localized band‐like sclerosis of the leptomeninges and associated vessels, as well as intraparenchymal calcifications and anomalous, ectatic vessels. These findings suggest that LScs may represent a neurocutaneous syndrome of vascular dysplasia similar to the Sturge‐Weber syndrome, rather than a localized form of collagen vascular disease, as suggested by some.
Magnetic stimulation over the cerebellum in humans
Authors: Ugawa Yoshikazu , Uesaka Yoshikazu , Terao Yasuo , Hanajima Ritsuko , Kanazawa Ichiro 
Published: January 2005

AbstractMagnetic stimulation performed with a double‐cone coil placed over appropriate positions on the back of the head reduced the size of electromyographic responses evoked by magnetic cortical stimulation in the first dorsal interosseous muscle when it preceded the cortical stimulus by 5, 6, and 7 msec. No suppression of responses to electrical cortical stimulation occurred. Greater suppression was evoked by stronger cerebellar stimuli; lesser suppression was elicited by stronger cortical stimuli. These physiological findings correspond to those obtained with electrical cerebellar stimulation. The most effective position for magnetic stimulation over the back of the head was slightly rostral to the foramen magnum level on the ipsilateral side of the muscle studied. This indicates that the conditioning stimulus activates certain structures at the back of the head on the ipsilateral side of the muscle, consistent with the cerebellum, because the part of the cerebellum regulating limb muscles is positioned about there on the ipsilateral side. In 2 patients with only cerebellar dysfunction, this suppression effect was not elicited, which also supports that the suppression is caused by activity in cerebellar structures. We conclude that magnetic stimulation over the cerebellum with a doublecone coil elicits the same suppressive effect on the motor cortex as electrical stimulation, but with less discomfort; moreover, we believe that this effect is produced by activation of certain cerebellar structures.
Common variable immunodeficiency and inclusion body myositis: A distinct myopathy mediated by natural killer cells
Authors: Dalakas Marinos C. , Illa Isabel 
Published: January 2005

AbstractInclusion body myositis developed in two men, 36 and 48 years old with long‐standing common variable immunodeficiency. Immunophenotypic analysis of the endomysial cells showed an increased number of natural killer (NK) cells (defined as CD57+, CD56+, CD3−, CD8−, CD68−) accounting for 8.5 to 9.5% of the total cells, compared with a mean of 1% in sporadic inclusion body myositis. The remaining cells were CD8+, macrophages, and CD4+ T cells. NK cells were positive for intercellular cell adhesion molecule‐1 and invaded muscle fibers negative for major histocompatibility complex (MHC) class I. In contrast to ubiquitous endomysial expression of MHC class I antigen in sporadic inclusion body myositis, the MHC class I in common variable immunodeficiency and inclusion body myositis was absent or weakly expressed in only some of the muscle fibers surrounded by CD8+ cells. Enteroviral or retroviral RNA sequences were not amplified. Treatment with intravenous immunoglobulin improved strength in 1 patient whose repeated muscle biopsy specimen showed normal NK cells. We conclude that inclusion body myositis can develop in patients with common variable immunodeficiency. Common variable immunodeficiency with inclusion body myositis is an immune myopathy mediated by NK cells in a non–MHC class I–restricted cytotoxicity, and by CD8+ cells in an MHC class I–restricted process. This is the first description of an inflammatory myopathy in which NK cells participate in the myocytotoxic process.
Central motor reorganization after anastomosis of the musculocutaneous and intercostal nerves following cervical root avulsion
Authors: Mano Yukio , Nakamuro Takuya , Tamural Ryuji , Takayanagi Tetsuya , Kawanishi Kouichi , Tamai Susumu , Mayer Richard F. 
Published: January 2005

AbstractIn 4 patients with a complete upper limb palsy due to traumatic cervical root avulsion, surgical anastomosis of intercostal to musculocutaneous nerves was performed to restore function in the biceps brachii muscle. Four to 6 months after the operation, motor unit discharges were recorded from the biceps muscle on the operated side during deep breathing and by cortical magnetic stimulation. The motor unit discharges became independent from respirations gradually over 1 to 2 years. The latencies of the motor potentials evoked by cortical and thoracic root magnetic stimulation decreased gradually over 2 to 3 years. Motor cortex mapping of the reinnervated biceps muscle showed a gradual change over 4 to 33 months from the area of the intercostal muscles to that of the arm area, which was more lateral on the motor cortex. These findings suggest that reorganization of the motor cortex to arm flexor muscles occurs following peripheral nerve anastomosis.
Selective loss of glial glutamate transporter GLT‐1 in amyotrophic lateral sclerosis
Authors: Rothstein Jeffrey D. , Van Kammen Marleen , Levey Allan I. , Martin Lee J. , Kuncl Ralph W. 
Published: January 2005

AbstractThe pathogenesis of sporadic amyotrophic lateral sclerosis (ALS) is unknown, but defects in synaptosomal high‐affinity glutamate transport have been observed. In experimental models, chronic loss of glutamate transport can produce a loss of motor neurons and, therefore, could contribute to the disease. With the recent cloning of three glutamate transporters, i.e., EAAC1, GLT‐1, and GLAST, it has become possible to determine if the loss of glutamate transport in ALS is subtype specific. We developed C‐terminal, antioligopeptide antibodies that were specific for each glutamate transporter. EAAC1 is selective for neurons, while GLT‐1 and GLAST are selective for astroglia. Tissue from various brain regions of ALS patients and controls were examined by immunoblot or immunocytochemical methods for each transporter subtype. All tissue was matched for age and postmortem delay. GLT‐1 immunoreactive protein was severely decreased in ALS, both in motor cortex (71% decrease compared with control) and in spinal cord. In approximately a quarter of the ALS motor cortex specimens, the loss of GLT‐1 protein (90% decrease from control) was dramatic. By contrast, there was only a modest loss (20% decrease from control) of immunoreactive protein EAAC1 in ALS motor cortex, and there was no appreciable change in GLAST. The minor loss of EAAC1 could be secondary to loss of cortical motor neurons. As a comparison, glial fibrillary acidic protein, which is selectively localized to astroglia, was not changed in ALS motor cortex. Because there is no loss of astroglia in ALS, the dramatic abnormalities in GLT‐1 could reflect a primary defect in GLT‐1 protein, a secondary loss due to down regulation, or other toxic processes.
Multifocal motor neuropathy human sera block distal motor nerve conduction in mice
Authors: Roberts Mark , Willison Hugh J. , Vincent Angela , Newsom‐Davis John 
Published: January 2005

AbstractMultifocal motor neuropathy (MMN) is associated with serum autoantibodies to gangliosides, but their pathogenic role is uncertain. We have used a novel approach to study the effects of serum and plasma from 8 patients with this syndrome, 6 of whom were anti‐GM1 positive. The nerve stimulus required to evoke muscle contraction and endplate potentials (EPPs) was measured in the mouse phrenic nerve—diaphragm preparation during 4 to 6 hours of direct application (plasma at 1:1 or serum 1:2 dilution) and following intraperitoneal injection of plasma (1 ml/day) for 1 to 5 days (“passive transfer”). Direct application of MMN serum or plasma produced a progressive increase in stimulus threshold, followed by complete block of nerve‐evoked muscle contraction in 3 cases, and an associated decline to about 50% of the EPP amplitude followed by sudden loss of EPPs. These effects were complement independent. Even with complete block of nerve‐evoked EPPs, miniature EPP (MEPP) frequency could be increased by raising external K+ to depolarize the nerve terminal directly. Passive transfer of 1 ml of MMN plasma (n = 5) for 3 days caused similar but less marked changes. These results demonstrate that serum factors in MMN can block nerve conduction at distal motor nerves.
Acute arcuate fiber demyelinating encephalopathy following epstein‐barr virus infection
Authors: Paskavitz James F. , Anderson C. Alan , Filley Christopher M. , Kleinschmidt‐DeMasters Bette K. , Tyler Kenneth L. 
Published: January 2005

AbstractWe describe a patient who presented with an acute monophasic illness characterized by behavioral abnormalities, visual illusions, and a seizure, who had magnetic resonance‐ and brain biopsy‐documented evidence of multifocal central nervous system demyelination. Serological studies were diagnostic of recent Epstein‐Barr virus infection and included evidence of intrathecal synthesis of Epstein‐Barr virus‐specific IgG antibodies against the viral capsid antigen. Viral DNA could not be amplified from cerebrospinal fluid by polymerase chain reaction, and viral antigen and genome were not detected in the brain biopsy specimen. The patient's clinical course, diagnostic studies, and neuropathological findings all support the diagnosis of a postinfectious Epstein‐Barr virus–mediated demyelinating encephalopathy.
Apolipoprotein E genotype in diverse neurodegenerative disorders
Authors: Schneider Julie A. , Gearing Marla , Robbins Ronen S. , De l'Aune William , Mirra Suzanne S. 
Published: January 2005

AbstractWhile the apolipoprotein E (ApoE) ϵ4 allele is a recognized risk factor for Alzheimer's disease (AD), an association of ϵ4 with other neurodegenerative diseases (NDs) has not been extensively explored. We examined 51 cases of neuropathologically confirmed ND. After eliminating 18 cases exhibiting pathology sufficient to warrant an additional diagnosis of AD, three disorders characterized by τ‐related cytoskeletal pathology, i.e., Pick's disease, corticobasal degeneration, and progressive supranuclear palsy, showed increased ϵ4 frequencies. Since the number of cases within each category was small, these increased ϵ4 frequencies were not statistically significant. β‐Amyloid (βA4) immunoreactive diffuse plaques were observed in many of these cases. While we cannot eliminate the possibility that these patients were destined to develop AD, these changes may merely reflect an independent association of ϵ4 with amyloid deposition. These preliminary data affirm the need for further study of well‐characterized cases to explore the relationship of ApoE to cytoskeletal pathology and ND.
Reduced expression of peptide‐loaded HLA class I molecules on multiple sclerosis lymphocytes
Authors: Li Fangqin , Linan Mercedes J. , Stein Marchion C. , Faustman Denise L. 
Published: January 2005

AbstractLymphocytes from patients with HLA class II–linked autoimmune disease such as type I diabetes, systemic lupus erythematosus, rheumatoid arthritis, and Graves' have recently been shown to have a Decemberrease in the expression of self‐peptide–filled HLA calss I antigens on the surface of peripheral lymphocytes. The human demyelinating diseases of multiple sclerosis in some cases are also associated with the presence of certain HLA class II genes, which may in turn be linked to genes in the class II region that control class I expression. Hence, we studied fresh peripheral blood mononuclear cells (PBMCs) and newly produced Epstein‐Barr virus (EBV)‐transformed cell lines from multiple sclerosis patients for the class I defect. Unseparated PBMCs, as well as T cells, B cells, and macrophages from multiple sclerosis patients had a Decemberrease in the amount of conformationally correct peptide‐filled HLA class I molecules on the cell surface compared with matched controls detectable by flow cytometry. To demonstrate the independence of this defect from exogenous serum factors, newly produced EBV‐transformed cell lines from B cells of patients with multiple sclerosis maintained the defect. In addition, DR2 +/+, +/–, and –/– EBV –transformed B cells from these patients similarly demonstrated the self‐antigen presentation defect. Analysis of a set of discordant multiple sclerosis twins revealed the class I defect was exclusively found on the affected twin lymphocytes, suggesting a role of this class I complex in disease expression. These data indicate that multiple sclerosis patients have abnormal presentation of self‐antigens. This phenomenon, common to a number of HLA‐linked autoimmune disorders, may be associated with failed self‐tolerance and improper T‐cell education secondary to faulty HLA class I assembly controlled by HLA class II linked genes.
Acute axonal Guillain‐Barré syndrome with IgG antibodies against motor axons following parenteral gangliosides
Authors: Illa Isabel , Ortiz Nicolau , Gallard Eduard , Juarez Candido , Grau Josep M. , Dalakas Marinos C. 
Published: January 2005

AbstractWe studied 7 patients with an acute motor axonal Guillain‐Barré syndrome (GBS), manifested 5 to 15 days after parenteral injection of a commercial ganglioside preparation given for nonspecific pain syndromes. The serum IgG and IgM antibody response to ganglioside was studied serially and the recognition of epitopes on the peripheral nerves and motor end‐plates was examined using biotinylated IgG extracted from the patient's serum. Sera from 8 patients treated with the same ganglioside preparation who did not develop neuropathy and from 25 patients with classic GBS never treated with gangliosides were studied concurrently. All patients with ganglioside‐related GBS had a rather severe axonal degeneration, incomplete recovery, and high IgG, but not IgM, antiganglioside antibody titers, ranging from 1:320 to 1:10,240. Seven (28%) of the 25 GBS patients had IgG antibody titers, ranging from 1:160 to 1:10,240. None of the ganglioside‐treated patients who did not develop GBS and none of the 50 disease control subjects had IgG GM1 antibodies. Purified IgG from the patients with high GM1 antibodies, but not from the others, recognized epitopes at the nodes of Ranvier and the distal motor nerve terminals at the end‐plate. We conclude that exogenous ganglioside injections can be immunogenic, triggering IgG antiganglioside antibodies with specificity for motor nerve terminals. In some patients with axonal GBS such antibodies may be Marchkersor mediators of axonal involvement.
Apolipoprotein E ϵ4 and cerebral hemorrhage associated with amyloid angiopathy
Authors: Greenberg Steven M. , William Rebeck G. , Vonsattel Jean Paul G. , Gomez‐Isla Teresa , Hyman Bradley T. 
Published: January 2005

AbstractCerebral amyloid angiopathy (CAA) is characterized by cerebrovascular deposition of the amyloid β‐peptide, leading to intracerebral hemorrhage in severe cases. Other than rare familial cases, the only identified risks for CAA are advancing age and accompanying Alzheimer's disease. We tested whether the apolipoprotein E ϵ4 (apoE ϵ4) allele was associated with CAA and hemorrhage and whether this association was independent of Alzheimer's disease. The apoE ϵ4 genotype was determined without knowledge of the pathology for 93 postmortem cases systematically graded for severity of CAA and for 15 patients with CAA‐associated intracerebral hemorrhage. We found a significant and independent effect of the apoE genotype in both cohorts. Among the postmortem cases, the presence of apoE ϵ4 increased the odds ratio 13.1‐fold. In the cohort of CAA‐associated cerebral hemorrhages, the apoE ϵ4 allele frequency was 0.40, significantly greater than the control frequency of 0.14. The increase in CAA remained even after controlling for the presence of Alzheimer's disease, suggesting that apoE ϵ4 is a risk factor for CAA and CAA‐related hemorrhage, independent of its association with Alzheimer's disease.
Creutzfeldt‐Jakob disease after liver transplantation
Authors: Créange Alain , Gray Françoise , Cesaro Pierre , Adle‐Biassette Homa , Duvoux Christophe , Cherqui Daniel , Bell Jeanne , Parchi Piero , Gambetti Pierluigi , Degos Jean‐Denis 
Published: January 2005

AbstractWe report a 57‐year‐old woman who died from Creutzfeldt‐Jakob disease 2 years after a liver transplantation. The liver donor had no history of neurological disease. In one albumin donor, possible Creutzfeldt‐Jakob disease developed 3 years later. The patient initially had cerebellar symptoms. Neuropathology included “Kuru‐type” plaques and prion protein (PrP) deposits involving the cerebellum predominantly. The patient was homozygote valine at codon 129 of the PrP gene while the liver was homozygote methionine. This observation raises the possibility of transmission of Creutzfeldt‐Jakob disease by the graft itself or the associated albumin transfusions and, on a wider extent, by nonneural tissue.
A search for human T‐cell leukemia virus type I in the lesions of patients with tropical spastic paraparesis and polymyositis
Authors: Tangy Frédéric , Vernant Jean‐Claude , Coscoy Laurent , Ossondo Marlène , Bellance RéMi , Zaninovic Vladimir , Cartier Luis , Brahic Michel , Ozden Simona 
Published: January 2005

AbstractWe searched for the presence of human T‐cell leukemia virus type I (HTLV‐I) sequences in central nervous system and muscle lesions of 3 patients with tropical spastic paraparesis/HTLV‐I—associated myelopathy (TSP/HAM) and 3 patients with HTLV‐I—associated polymyositis. Proviral DNA coding for the Tax protein was found by polymerase chain reaction amplification in DNA extracted form lesions of every patient with TSP/HAM or HTLV‐I—associated polymyositis. In contrast, viral RNA was found occasionally by in situ hybridization in muscle lesions of some patients with polymyositis, but was never found in central nervous system lesions of TSP/HAM patients.
Paroxysmal dyskinesias: Clinical features and classification
Authors: Demirkiran Meltem , Jankovic Joseph 
Published: January 2005

AbstractWe studied 46 patients with paroxysmal dyskinesia and classified them according to phenomenology, duration of attacks, and etiology. There were 13 patients, 7 females, who had paroxysmal kinesigenic dyskinesia (PKD), 10 with attacks lasting 5 minutes or less (short lasting) and 3 with attacks lasting longer than 5 minutes (long lasting). Twentysix patients, 18 females, had paroxysmal nonkinesigenic dyskinesia (PNKD), 9 with short‐lasting and 17 with longlasting PNKD. Five patients, 3 females, had paroxysmal exertion‐induced dyskinesia (PED), 3 with short‐lasting PED and the other 2 with long‐lasting PED. In addition, there was 1 patient with paroxysmal hypnogenic dyskinesia (PhD) and 1 with paroxysmal superior oblique myokymia. Only 2 patients, 1 with PKD and 1 with PhD, had family history of paroxysmal dyskinesias. No specific cause could be identified in 21 patients; in the other 23 patients the etiologies included the following: psychogenic (9 patients), cerebrovascular diseases (4), multiple sclerosis (2), encephalitis (2), cerebral trauma (2), peripheral trauma (2), migraine (1), and kernicterus (1). Nine of 10 (90%) patients with PKD improved with medications, mostly anticonvulsants, compared with only 7 of 19 (37%) with PNKD. This new classification, based chiefly on precipitating events, allowed appropriate categorization of the attacks in all our patients with paroxysmal dyskinesias.
Clinical correlates of {18F}fluorodopa uptake in five grafted Parkinsonian patients
Authors: Remy Philippe , Samson Yves , Hantraye Philippe , Fontaine Anne , Defer Gilles , Mangin Jean‐François , Fénelon Gilles , Gény Christian , Ricolfi Frédéric , Frouin Vincent , N'Guyen Jean‐Paul , Jeny Roland , Degos Jean‐Denis , Peschanski Marc , Cesaro Pierre 
Published: January 2005

AbstractTo assess the efficacy of fetal mesencephalic grafts in Parkinson's disease, it is important to know if the grafted cells survive and are functional. Positron emission tomography (PET) and {18F}fluorodopa ({18F}dopa) have been used to demonstrate the survival of the grafted cells, but the relationship of {18F}dopa uptake changes in the grafted striatum to motor function remains unclear. We investigated this question with 16 serial PET scan in 5 severe parkinsonian patients unilaterally grafted in whom we found a significant and progressive increase of the {18F}dopa uptake in the grafted putamen. The number of patients was too small to assess the sensitivity of {18F}dopa PET scans in individual patients. Yet, by analyzing the 16 serial PET scans we found a correlation between the {18F}dopa uptake (Ki) in the grafted putamen and the percentage of daily time spent “on,” suggesting that Ki changes have a functional meaning. In addition, the Ki values were correlated with the contralateral finger dexterity to the same extent in both the grafted and nongrafted putamen. These results indicate that {18F}dopa uptake reflects the motor function of the opposite side of the body, similarly in the grafted and ungrafted putamen, at least in terms of these tasks. Finally, extrapolating from these correlations offers the suggestion that clinical optimal results of the graft could be achieved if the graft brings the Ki values in the putamen to about two standard deviations of mean control values.