bluuebunny/crossref_metadata_2025_split huggingface dataset:
Lack of association of very low density lipoprotein receptor gene polymorphism with caucasian Alzheimer's disease
Authors: Okuizumi Kaoru , Onodera Osamu , Tanaka Hajime , Tsuji Shoji , Seki Koji , Namba Yoshio , Ikeda Kazuhiko , Saunders Ann M. , Pericak‐Vance Margaret A. , Roses Allen D. 
Published: January 2005

AbstractTo determine whether the association of the very low density lipoprotein receptor (VLDL‐R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we have investigated the allele frequency of the polymorphic CGG repeat in the 5‐UTR of the VLDL‐R gene using a data set of 84 caucasian AD patients with 104 caucasian controls. Although the allele frequency of the 8‐repeat allele was slightly lower, and that of 9‐repeat allele was slightly higher, in the caucasian AD patients than in caucasian controls, the differences were not statistically significant. Multiple logistic regression analysis using apolipoprotein E4 (APOE4) allele, 5‐, 8‐, or 9‐repeat allele of the VLDL‐R gene, sex, and age at onset as the predictors revealed that only the APOE4 allele was significantly associated with AD in the data set of the caucasian AD patients and controls.
Early american professorships in neurology
Authors: Goetz Christopher G. , Pappert Eric J. 
Published: January 2005

AbstractAmerican universities recognized and institutionalized the emerging importance of neuroscience in medicine by establishing neurological professorships as early as the 1860s. Nearly 20 years before Charcot assumed his celebrated chaired professorship for Diseases of the Nervous System in France, Harvard University created a professorship of Physiology and Pathology of the Nervous System (1864), naming Brown‐Séquard as its recipient. In 1867, the new Bellevue Hospital Medical School established a combined neurology/psychiatry chair with William A. Hammond as professor, and the University of Pennsylvania created a clinical professorship devoted specifically to neurology in 1875, naming Horatio C. Wood. Although modest in their university power base and their clinical research/laboratory programs, these American posts were internationally unique for their time and solidly entrenched neurology as a specific division in early US medical education.
Effects of antiepileptic drugs on motor cortex excitability in humans: A transcranial magnetic stimulation study
Authors: Ziemann U. , Lönnecker S. , Steinhoff B. J. , Paulus W. 
Published: January 2005

AbstractThe effect of a single oral dose of various antiepileptic drugs on the excitability of the motor system was studied in healthy volunteers by means of transcranial magnetic stimulation. Motor threshold, duration of the cortical silent period, and intracortical excitability after double‐shock transcranial stimulation were tested before and at defined intervals after drug intake. Antiepileptic drugs that support the action of the inhibitory neurotransmitter γ‐aminobutyric acid (GABA) in the neocortex (vigabatrin, baclofen) reduced intracortical excitability but had no effect on motor threshold. Gabapentin, whose mechanism of action has not yet been unequivocally identified, showed a similar profile. By contrast, sodium and calcium channel blockers without considerable neurotransmitter properties (carbamazepine, lamotrigine, losigamone) elevated motor threshold but did not change intracortical excitability. The cortical silent period was lengthened by gabapentin and carbamazepine. Changes in peripheral motor excitability (maximum M wave, peripheral silent period) were not observed. We conclude that the changes in intracortical excitability are caused by GABA‐controlled interneuronal circuits in the motor cortex while changes in motor threshold are dependent on ion channel conductivity and may reflect membrane excitability. Transcranial magnetic stimulation may be a promising noninvasive approach to study the selective effects of antiepileptic drugs on brain function.
Altered expression of bcl‐2 and bax mRNA in amyotrophic lateral sclerosis spinal cord motor neurons
Authors: Mu Xiaojun , He Jin , Anderson David W. , Springer Joe E. , Trojanowski John Q. 
Published: January 2005

AbstractOne of the primary neurodegenerative events occurring in amyotrophic lateral sclerosis (ALS) is the selective loss of spinal cord α motor neurons. To study the potential role of apoptosis in the degeneration of these motor neurons, in situ hybridization was used to measure the expression of two apoptotic cell death genes, bcl‐2 and bax, in control and ALS lumbar spinal cord sections. The strongest hybridization signal for bcl‐2 mRNA in neurological and nonneurological control spinal cords was found primarily in lamina IX α motor neurons, while a weaker hybridization signal was found in neurons of Clarke's nucleus and the proper sensory nucleus of the dorsal horn. Surviving lamina IX motor neurons in ALS spinal cord sections also expressed bcl‐2 mRNA, but at levels that were significantly and selectively decreased (4.7‐fold) compared with control. bax mRNA hybridization signal was detected in several cells throughout the gray matter in control and ALS lumbar spinal cord, but was significantly and selectively increased (2.8‐fold) in ALS motor neurons. Given the proposed interactive roles of these genes in apoptosis, the present findings favor a scenario in which this mode of cell death would contribute to spinal cord motor neuron degeneration in ALS.
Striatal dopamine, dopamine transporter, and vesicular monoamine transporter in chronic cocaine users
Authors: Wilson Julie M. , Shannak Kathleen , Kish Stephen J. , Levey Allan I. , Bergeron Catherine , Deck John , Kalasinsky Kathryn , Ang Lee , Peretti Frank , Adams Vernard I. , Smialek John , Anderson William R. , Niznik Hyman B. 
Published: January 2005

AbstractDepletion of striatal dopamine (DA) has been hypothesized to explain some of the neurological and psychiatric complications of chronic use of cocaine, including increased risk for neuroleptic‐precipitated movement disorders. We measured levels of DA, as well as two DA nerve terminal indices, namely, the DA transporter (DAT) and the vesicular monoamine transporter (VMAT2) in autopsied brain of 12 chronic cocaine users. Mean DA levels were normal in the putamen, the motor component of the striatum; however, 4 of the 12 subjects had DA values below the lower limit of the control range. DA concentrations were significantly reduced in the caudate head (head, –33%; tail, –39%) with a trend for reduction in nucleus accumbens (–27%). Striatal DAT protein (–25 to –46%) and VMAT2 (–17 to –22%) were reduced, whereas DAT determined by [3H]WIN 35,428 binding was normal. In conclusion, our data suggest that chronic cocaine use is associated with modestly reduced levels of striatal DA and the DA transporter in some subjects and that these changes might contribute to the neurological and psychiatric effects of the drug.
Epstein‐barr virus–associated acute autonomic neuropathy
Authors: Bennett Jeffrey L. , Mahalingam Ravi , Wellish Mary C. , Gilden Donald H. 
Published: January 2005

AbstractA 44‐year‐old man developed blurry vision, photosensitivity, orthostasis, constipation, and acrodysesthesias after a febrile illness. The neurologic examination and ancillary studies were consistent with a dysautonomic small fiber neuropathy. The cerebrospinal fluid (CSF) contained both Epstein‐Barr virus (EBV) DNA and antibody to EBV. This is the first report of an acute autonomic neuropathy with documented EBV infection in CSF.
The glial glutamate transporter complementary DNA in patients with amyotrophic lateral sclerosis
Authors: Meyer Thomas , Meyer Bientje , Sitte Wolfgang , Ludolph Albert C. , Speer Astrid , Küther Gerald 
Published: January 2005

AbstractHere, we report a mutation screening by single‐stranded conformational analysis of the astroglial human brain glutamate transporter (HBGT) II complementary DNA in patients with amyotrophic lateral sclerosis. The conformational analysis data indicate a lack of sequence variations in the HBGT II coding region in 6 patients with amyotrophic lateral sclerosis and the same number of nonneurological control subjects. In both groups, three variants of the HBGT II 5′ untranslated region were isolated. We have no evidence that the reported complementary DNA variants are disease specific.
Sequence variants in human neurofilament proteins: Absence of linkage to familial amyotrophic lateral sclerosis
Authors: Vechio Janet D. , Bruijn Lucie I. , Xu Zuoshang , Brown Robert H. , Cleveland Don W. 
Published: January 2005

AbstractNeurofilaments, assembled from NF‐L (68 Kd), NF‐M (95 Kd), and NF‐H (115 kd), are the most abundatn structural components in large myelinated axons, particularly those of motor neurons. Aberrant neurofilament accumulation in cell bodies and axons of motor neurons is a prominent pathological feature of several motor neuron diseases, including sporadic and familial amyotrophic lateral sclerosis (ALS). Transgenic methods have proved in mice that mutation in or increased expression of neurofilament subunits can be primary causes of motor neuron disease that mimics the neurofilamentous pathology often reported in human disease. To examine whether mutation in neurofilament subunits causes or predisposes to ALS, we used single‐strand conformation polymorphism coupled with DNA sequencing to search for mutations in the entirety of the human NF‐L, NF‐M, and NF‐H genes from 100 familial ALS patients known not to carry mutations in superoxide dismutase 1 (SOD1), as well as from 75 sporadic ALS patients. Six polypeptide sequence variants were identified in rod and tail domains of NF‐L, NF‐M, or NF‐H. However, all were found at comparable frequency in DNAs from normal individuals and no variant cosegregated with familial disease. Two deletions found previously in NF‐H genes of sporadic ALS patients were not seen in this group of familial or sporadic ALS patiens.
HIV‐1 DNA in brains in AIDS and pre‐AIDS: Correlation with the stage of disease
Authors: An Shu F. , Giometto Bruno , Scaravilli Francesco 
Published: January 2005

AbstractSeventeen asymptomatic individuals positive for human immunodeficiency virus type 1 (HIV‐1) and 16 patients with acquired immunodeficiency syndrome (AIDS), all with polymerase chain reaction evidence of HIV‐1 DNA, were selected for quantitative analysis to correlate the levels of HIV‐1 DNA in brain tissue with the stage of infection. The AIDS patients either were clinically asymptomatic or presented various abnormalities. Neuropathological lesions were assessed by morphological and immunohistochemical methods. To determine the level of HIV‐1 DNA, semiquantitative nested polymerase chain reaction was applied using a digoxigenin‐labeled primer and chemiluminescence. Serial dilutions of standard HIV DNA were run in parallel with brain DNA samples. Among the 16 AIDS brains studied, 9 showed changes characteristic of HIV encephalitis/leukoencephalopathy while 1 showed focal pontine leukoencphalopathy and 6 showed no obvious neuropathological lesions. Abnormalities in pre‐AIDS individuals included meningitis, microgliosis, and astrogliosis. Copy numbers of HIV‐1 DNA in the brains of AIDS patients were higher than those in asymptomatic individuals (median, 135 vs 45 copies/150,000 cells). However, there was some degree of overlapping between the two groups, with some AIDS patients showing low figures while 3 asymptomatic individuals had high copy numbers. This suggests that the use of HIV‐1 DNA load in the central nervous system as an indicator of progression of the disease should be restricted to large series and not single patients.
Cognitive and brain magnetic resonance imaging findings in adrenomyeloneuropathy
Authors: Edwin David , Speedie Lynn J. , Kohler Wolfgang , Naidu Sakkubai , Moser Hugo W. , Kruse Bernd 
Published: January 2005

AbstractNeuropsychological functioning and brain magnetic resonance imaging (MRI) were evaluated in 84 men with adrenomyeloneuropathy (AMN). MRI was normal in 61%, the “pure AMN” group, while 39%, the “cerebral AMN” group, showed brain white matter abnormalities. Except for mild deficits in psychomotor speed and visual memory, neuropsychological function was normal in pure AMN. Most patients with cerebral AMN had normal IQ and language but evidenced impaired psychomotor speed, spatial cognition, memory, and executive functions. Patients with MRI evidence of very severe cerebral disease had global and language impairment as well, and deficits in all patients were highly correlated with degree of brain MRI involvement.
Clonal expansion of mitochondrial DNA with multiple deletions in autosomal dominant progressive external ophthalmoplegia
Authors: Moslemi Ali‐Reza , Oldfors Anders , Melberg Atle , Holme Elisabeth 
Published: January 2005

AbstractSporadic progressive external ophthalmoplegia and Kearns‐Sayre syndrome are usually associated with single large‐scale mitochondrial DNA deletions in muscle. In progressive external ophthalmoplegia with autosomal dominant inheritance, multiple mitochondrial DNA deletions have been reported. We studied several members of a Swedish family with autosomal dominant progressive external ophthalmoplegia and multiple mitochondrial DNA deletions by polymerase chain reaction analysis of singl emuscle fibers and by in sit hybridization, combined with enzyme histochemical analysis. Muscle fiber segments with deficiency of cytochrome c oxidase, which is partially encoded by mitochondrial DNA, had accumulated mitochondrial DNA with deletions and showed reduced levels of wild‐type mitochondrial DNA. The deletions varied between individual muscle fibers. There was one predominant deletion in each cytochrome c oxidase‐deficient muscle fiber segment. Sequencing of the deletion breakpoints showed that most but not all of the deletions were flanked by direct repeats. Young, clinically affected individuals of this family without limb muscle symptoms did not show mitochondral DNA deletions or cytochorme c oxidase‐deficient muscle fibers. Our result indicate that a nuclear factor predisposes to the developement of somatic multiple mitochondrial DNA deletions. Mitochondrial DNA with multiple different deletions shows clonal expansion, which leads to mitochondrial myopathy with ragged‐red fibers and muscle weakness.
Human T‐cell lymphotropic virus type II–associated myelopathy: Clinical and immunologic profiles
Authors: Lehky Tanya J. , Flerlage Nicholas , McFarland Henry F. , Jacobson Steven , Katz David , Houff Sidney , Hall Willaim H. , Ishii Kazuyoshi , Monken Claude , Dhib‐Jalbut Suhayl 
Published: January 2005

AbstractHuman T‐cell lymphotropic virus type II (HTLV‐II) is endemic in several ethnic tribes and among intravenous drug users in metorpolitan areas. Despite the presence of HTLV‐II in these various populations, the association of HTLV‐II with disease is sparse and mainly limited to isolated case reports. This study is an extension of an earlier description of an HTLV‐II‐infected patient with neurologic disease and presents the clinical and immunologic findings of 4 patients with HTLV‐II seropositivity and spastic paraparesis. The patients are of African‐American orgin with 3 of the patients with HTLV‐II seropositivity and spastic paraparesis. The patients are of African‐American origin with 3 of the patients being of Amerindian descent. All of the patients are seronegative for the human immunodeficiency virus (HIV). The patients progressed to a nonambulatory state in less than 5 years. Magnetic resonacne imaging studies obtained jfrom 3 of the patients demonstratd white matter disease in the cerebrum and spinal cord. The cerebrospinal fluid and serum contained antibodies to HTLV‐II. Ther presence of proviral HTLV‐II was confirmed by polymerase chain reaction analysis of peripheral blood lymphocytes (PBLs). A spinal cord biopsy from 1 patient demonstratd HTLV RNA within a lesion. Immunolgic studies on 2 patients demonstrated that spontaneous lymphoproliferation of PBLs was present but decreased relative to HTLV‐I‐infected patients. The clinical and immunologic findings from these HTLV‐II‐infected patient resemble those found in HTLV‐I‐associated myelopathy/tropical spastic paraparesis.
Deficient glutamate tranport is associated with neurodegeneration in Alzheimer's disease
Authors: Masliah E. , Hansen L. , Alford M. , Deteresa R. , Mallory M. 
Published: January 2005

AbstractThe mechanisms of synapse damage in Alzheimer's disease (AD) are not fully understood. Deficient functioning of glutamate transporters might be involved in synaptic pathology and neurodegeneration by failing to clear excess glutamate at the synaptic cleft. In AD, glutamate transporter activity as assessed by D‐[3H]aspartate binding is decreased; however, it is not clear to what extent it is associated with the neurodegenerative process and cognitive alterations. For this purpose, levels of D‐ and L‐[3H]asparate binding in midfrontal cortex were correlated with synaptophysin levels, brain spectrin degradation product levels, and clinical and neuropathological indicators of AD. Compared to control brains AD brains displayed a 34% decrease in levels of D‐[3H]aspartate binding, a 30% decrease in L‐[3H]aspartate binding, and a 48% loss of synaptophysin immunoreactivity. Increased levels of brain spectrin degradation products correlated with a decrease in levels of D‐[3H] and L‐[3H]aspartate binding, and decreased levels of synaptophysin immuno‐reactivity. Levels of L‐[3H]asparatate binding correlated with levels of synaptophysin immunoreactivity. These results suggest that decreased glutamate transporter activiyt in AD is associated with increased excitotoxicity and neurodegeneration, supporting the possibility that abnormal functioning of this system might be involved in the pathogenesis of synaptic damage in AD.
Mutant GTP cyclohydrolase I mRNA levels contribute to dopa‐responsive dystonia onset
Authors: Hirano Makito , Tamaru Yoshiko , Ito Hidefumi , Matsumoto Sadayuki , Imai Terukuni , Ueno Satoshi 
Published: January 2005

AbstractWe present a new Japanese family with hereditary progressive dystonia with marked diurnal fluctuation/doparesponsive dystonia. The affected daughter and her asymptomatic father are heterozygous for a novel missense mutation that replaces His by Pro at codon 144 in the GTP cyclohydrolase I gene. Quantitative reverse transcription‐polymerase chain reaction revealed a higher ratio of mutant/normal mRNA encoding GTP cyclohydrolase I in the patient. These results demonstrate the importance of mutant mRNA levels for phenotypic variability among cases with the same mutation.
Search for retrovirus in patients with multiple sclerosis
Authors: Hackett John , Swanson Priscilla , Leahy David , Anderson Eve L. , Sato Shigeru , Roos Raymond P. , Decker Richard , Devare Sushil G. 
Published: January 2005

AbstractMultiple sclerosis (MS) patient samples were screened for known or novel retroviruses using an ultrasensitive technique, IMx PERT, that detects the presence of reverse transcriptase (RT). This procedure has 105‐ to 107‐fold greater sensitivity than conventional RT assays and is capable of detecting 10 to 50 virions. Moreover, IMx PERT is at least as sensitive as polymerase chain reaction, and requires no previous knowledge of viral nucleotide sequence. The MS specimens analyzed in this study included 136 sera from 79 patients and 128 cerebrospinal fluid samples from 53 patients with relapsing or chronic progressive disease. In addition, peripheral blood mononuclear cells from 19 MS patients were cultured in an attempt to amplify or induce expression of low‐copy number or cell‐associated retrovirus. No evidence of retrovirus was found in any of the specimens obtained from MS patients.
Apolipoprotein E and apolipoprotein E messenger RNA in muscle of inclusion body myositis and myopathies
Authors: Mirabella Massimiliano , Alvarez Renate B. , King Engel W. , Askanas Valerie , Weisgraber Karl H. 
Published: January 2005

AbstractSporadic inclusion body myositis and the hereditary inclusion body myopathies are severe, progressive muscle diseases, characterized pathologically by vacuolated muscle fibers containing paired helical filaments. We immunostained muscle biopsy specimens from sporadic inclusion body myositis, hereditary inclusion body myopathy, disease control, and normal patients with several antibodies against apolipoprotein E (ApoE). Approximately 80 to 90% of the vacuolated muscle fibers of sporadic inclusion body myositis contained well‐defined, strongly immunoreactive ApoE inclusions, In hereditary inclusion body myopathy, only rare vacuolated fibers had immunoreactive inclusions, whereas most had diffuse cytoplasmic ApoE immunoreactivity. Ultrastructurally, ApoE immunoreactivity in sporadic myositis was localized mainly to the paired helical filaments. By contrast, in the hereditary form, ApoE immunoreactivity occurred on material in close proximity to the paired helical filaments, but never was on the paired helical filaments. In both muscle diseases, ApoE was also on the 6‐to 10‐nm filaments and amorphous material. In the sporadic form, ApoE‐immunoreactive deposits colocalized with Congo red‐positive deposits; however, in muscle fibers from patients with hereditary disease there was no congophilia. ApoE messenger RNA was not detectable in muscle fibers from patients with hereditary or sporadic disease but was expressed abundantly in muscle macrophages. In all control and inclusion body myositis or myopathy biopsy specimens, ApoE immunoreactivity was strong at the postsynaptic domain of neuromuscular junctions; nonjunctional regions of normal fibers were negative for ApoE. ApoE immunoreactivity occurred diffusely in regenerating muscle fibers, a subset of which had detectable ApoE messenger RNA.
A rapidly progressive adolescent‐onset oculopharyngeal somatic syndrome with rimmed vacuoles in two siblings
Authors: Rose Michael R. , Landon David N. , Papadimitriou Alex , Morgan‐Hughes John A. 
Published: January 2005

AbstractWe describe 2 Greek siblings who developed a rapidly progressive oculopharyngeal somatic syndrome, at the ages of 11 and 14 years, with muscle biopsies showing rimmed vacuoles and, in 1 case, cytoplasmic and intranuclear tubulofilamentous inclusions 25 nm in diameter. Although a similar pattern of muscle involvement with rimmed vacuoles is described in autosomal dominant oculopharyngeal muscular dystrophy, the age of onset, the rapid progression of the symptoms, and the nature of the tubulofilaments distinguish this as a separate entity.