bluuebunny/crossref_metadata_2025_split huggingface dataset:
Vestibular dysfunction in chronic inflammatory demyelinating Polyneuropathy
Authors: Frohman Elliot M. , Tusa Ronald , Mark Alexander S. , Cornblath David R. 
Published: January 2005

AbstractChronic inflammatory demyelinating polyneuropathy (CIDP) has occasionally been associated with clinical or laboratory evidence (magnetic resonance imaging, [MRI], visual evoked response, and brainstem auditory evoked response [BAER]) of cranial neuropathy. In most cases, the relationship of cranial nerve involvement to CIDP remains unclear. A 45‐year‐old woman noted foot numb‐ness, limb weakness, gait and postural instability, and oscillopsia. An IgG kappa monoclonal gammopathy of undetermined significance was found. Bilateral vestibulopathy was documented by clinical examination, bithermal calorics, rotary chair testing, BAERs, and dynamic posturography. MRI with gadolinium demonstrated enhancement of cranial nerve VIII bilaterally. Over the next 6 years, the patient's relapsing and remitting course of CIDP and vestibulopathy was assessed by quantitative muscle and vestibular function testing (clinically and neurophysiologically), and dynamic visual acuity. There was a striking synchronization between her CIDP and vestibulopathy with respect to clinical course including relapses and responses to immune therapy. The response to therapy, and evidence derived from clinical and laboratory investigations, suggest that the vestibular dysfunction was immune mediated.
Levodopa‐induced dyskinesias improved by a glutamate antagonist in parkinsonia monkeys
Authors: Papa Stella M. , Chase Thomas N. 
Published: January 2005

AbstractAntagonists of the N‐methyl‐D‐aspartate (NMDA) subtype of glutamate receptor have been reported to potentiate the antiparkinsonian action of levodopa and reverse levodopa‐induced motor fluctuations in animal models of Parkinson's disease. To evalute the effect of NMDA receptor blockade on dyskinesias complicating the response to long‐term levodopa therapy, we studied the selective antagonist LY235959 in six 1‐methyl‐4‐phenyl‐1, 2, 3, 6‐tetrahydropyridine‐lesioned monkeys. Drugs were administered subcutaneously, LY235959 at doses of 0.5, 1.0, 3.0, and 5.0 mg/kg and levodopa/benserazide at doses that produced moderate dyskinesias while almost totally reversing parkinsonian signs. Compared with vehicle control injections, LY235959 (3.0 mg/kg) abolished oral dyskinesias and diminished choreic dyskinesias by 68% (P < 0.01). Lower doses had smaller effects, although still significant, on oral dyskinesias (55% reduction at 1.0 mg/kg, P < 0.05). The highest LY235959 dose (5.0 mg/kg) prolonged oral dyskinesia suppression, but tended to increase dystonia severity. LY235959 had no effect on motor function when given alone and did not reduce the antiparkinsonian response to levodopa. These findings suggest that NMDA receptor blockade may ameliorate the dyskinetic complications of long‐term levodopa therapy, without diminishing the beneficial effects on parkinsonian signs.
Glutamate transporter gene expression in amyotrophic lateral sclerosis motor cortex
Authors: Bristol Lynn A. , Rothstein Jeffrey D. 
Published: January 2005

AbstractGlutamate transport is critical for synaptic inactivation of glutamate and prevention of excitotoxicity. The following four glutamate transporters have been identified in human brain: EAAT1, EAAT2, EAAT3, and EAAT4. Deficient glutamate transport has been identified in the motor cortex and the spinal cord of tissue from amyotrophic lateral sclerosis (ALS) patients. The defect appears to be due to a selective loss of the astroglial specific glutamate transporter protein EAAT2. In these studies we sought to extend our understanding of glutamate transporters in ALS by examining the mRNA for each transporter subtype in ALS motor cortex. All tissue was matched for age and postmortem delay. There was no quantitative change in mRNA for EAAT1, EAAT2, or EAAT3 in ALS motor cortex, even in patients with a large loss of EAAT2 protein (95% decrease compared with control) and decreased tissue glutamate transport (73% decrease compared with control). These studies suggest that the dramatic abnormalities in EAAT2 may be due to translational or post‐ translational processes.
The syndrome of posterior choroidal artery territory ifarction
Authors: Neau Jean‐Philippe , Bogousslavsky Julien 
Published: January 2005

AbstractPosterior choroidal artery (PChA) territory infarcts remain the least well‐known type of thalamic infarcts. Our study of 10 personal cases, selected from 2,925 stroke patients admitted consecutively to a community‐based primary care center, and 10 published cases of unilateral PChA territory infarct suggests that they can often be differentiated clinically from other thalamic infarcts. Patients with PChA territory infarct associated with superficial posterior cerebral artery territory infarct or with another infarct were excluded. Damage was characteristically limited to the lateral geniculate body, pulvinar, posterior thalamus, hippocampus, and parahippocampal gyrus, without involvement of the upper midbrain and the anterior nucleus of thalamus. In lateral PChA territory infarct, the most common clinical manifestations included homonymous quadrantanopsia, with or without hemisensory loss and neuropsychological dysfunction (trans‐cortical aphasia, memory disturbances). A homonymous horizontal sectoranopsia is exceptional but particularly suggestive of the involvement of the lateral geniculate body in this territory. Medial PChA territory infarct was less frequent. Its neurologic picture was dominated by eye movement disorders not particularly suggestive of thalamic involvement. Late disability was usually absent or slight, being related to pain and delayed abnormal movements. The most common stroke etiology was presumed small‐vessel occlusive disease.
Analysis of chromosome 5q13 genes in amyotrophic lateral sclerosis: Homozygous naip deletion in a sporadic case
Authors: Jackson Mandy , Morrison Karen E. , Al‐Chalabi Ammar , Baldier Martijn , Leigh Peter N. 
Published: January 2005

AbstractAlthough defects in the gene encoding the enzyme cytosolic copperlzinc superoxide dismutase (SODI) have been reported in 20% of familial amyotrophic lateral sclerosis (ALS) patients, the etiology of the remaining familial cases and the more common sporadic form of the disease remains unknown. Recently, deletions of the neuronal apoptosis inhibitory protein gene NAZP, of the survival motor neuron gene SMN, and of a further cDNA fragment, XS2G3, have been reported in childhood7‐onset proximal spinal muscular atrophy (SMA), another disorder with pathology restricted to the motor system. We have therefore investigated the possibility of alterations in SMN and NAIP in 154 patients with ALS (135 sporadic cases, 17 familial cases). None of these patients revealed mutations in SMN by single‐strand conformation polymorphism analysis. A single patient revealed a partial deletion of NAIP, with a homozygous absence of NAIP exon 5. While it is possible that this individual is one of the rare carriers of SMA who show NAIP deletions, a further explanation is that the NAIP deletion is in some way contributing to the ALS phenotype in this individual.
Deficiency of respiratory chain complex I is a common cause of leigh disease
Authors: Morris A. A. M. , Leonard J. V. , Brown G. K. , Bidouki S. K. , Bindoff L. A. , Turnbull D. M. , Woodward C. E. , Harding A. E. , Lake B. D. , Harding B. N. , Farrell M. A. , Bell J. E. , Mirakhur M. 
Published: January 2005

AbstractWe reviewed the clinical features and etiologies of Leigh disease in 66 patients from 60 pedigrees. Biochemical or molecular defects were identified in 50% of all pedigrees, and in 74% of the 19 pedigrees with pathologically proved Leigh disease. Isolated deficiency of respiratory chain complex I was found in 7 patients, though the complex was only assayed in 25 patients, making this the second most common biochemical abnormality after complex IV deficiency. Mutations at residue 8993 of mitochondrial DNA were found in only 2 patients. No correlation was found between the clinical features and etiologies. No defects were identified in the 8 patients with normal lactate concentrations in the cerebrospinal fluid.
Positron emission tomographic studies of cerebral benzodiazepine‐receptor binding in chronic alcoholics
Authors: Gilman Sid , Junck Larry , Martorello Susan , Lohman Mary , Koeppe Robert A. , Adams Kenneth , Johnson‐Greene Douglas , Kluin Karen J. , Brunberg James 
Published: January 2005

AbstractPositron emission tomography was used with [11C] flumazenil (FMZ) and [18F] fluorodeoxyglucose to study GABA type A/benzodiazepine (GABA‐A/BDZ) receptors and cerebral metabolic rates for glucose (1CMRglc) in 17 male patients with severe chronic alcoholism (ALC), 8 with (ACD) and 9 without alcoholic cerebellar degeneration (non‐ACD). In comparison with male normal controls of similar ages, the ALC group had significantly reduced FMZ ligand influx (K1), FMZ distribution volume (DV), and 1CMRglc bilaterally in the medial frontal lobes, including superior frontal gyrus and rostral cingulate gyrus; the ACD group had significant reductions of K1, DV, and ICMRglc bilaterally in the same distribution, and also in the superior cerebellar vermis; and the non‐ACD group had significant reductions of K1, DV, and ICMRglc bilaterally in the same regions of the frontal lobes but not in the superior cerebellar vermis. When compared with the non‐ACD group, the ACD group had significant reductions of K1 and DV bilaterally in the superior cerebellar vermis. The results suggest that severe chronic alcoholism damages neurons containing GABA‐A/BDZ receptors in the superior medial apsects of the frontal lobes, and in patients with clinical signs of ACD, neurons containing GABA‐A/BDZ receptors in the superior cerebellar vermis.
Apolipoprotein E genotype in elderly nondemented subjects without senile changes in the brain
Authors: Yamada Masahito , Itoh Yoshinori , Otomo Eiichi , Suematsu Naomi , Matsushita Masaaki 
Published: January 2005

AbstractOnly a small minority of elderly subjects can survive with a brain free of senile changes (senile plaques, neurofibrillary tangles, and amyloid angiopathy) beyond the age of 80 years. We demonstrated that an increase of ε2 allele frequency and a decrease of ε4 allele frequency of the apolipoprotein E gene are associated with such brain aging without senile changes.
Functional MRI of lateral occipitotemporal cortex during pursuit and motion perception
Authors: Barton Jason J. S. , Simpson Trefford , Kiriakopoulos Elaine , Stewart Cindy , Crawley Adrian , Guthrie Bart , Wood Michael , Mikulis David 
Published: January 2005

AbstractWe performed functional imaging with a conventional 1.5‐T magnetic resonance scanner in 9 normal subjects. We used a gradient‐echo technique to examine changes in signal between periods when subjects viewed a stationary black‐and‐white grating, a moving grating, and when they followed a moving spot. We located image pixels with significant differences between the viewing conditions. In 7 subjects, these occurred in the lateral occipitotemporal cortex, a region previously identified as a putative human homologue of the motion‐sensitive middle temporal area (MT, or V5) of monkeys. Signal intensity was greater during pursuit of the moving dot than durin viewing of the moving grating with the eyes still, despite the fact that the moving grating generated more retinal image motion. In contrast, signal intensity in striate cortex was least during pursuit of the moving dot. These findings suggest that the lateral occipitotemporal cortex has extraretinal signals during pursuit. Such signals may include attentional input, corollary eye movement information, or even a pursuit command. Extraretinal signals suggest that the lateral occipitotemporal cortex may contain a human homologue not only of MT but also of other components of monkey V5 complex, such as the medical superior temporal area.
Cognitive deficits in Machado‐Josephs disease
Authors: Maruff P. , Tyler P. , Burt T. , Currie B. , Burns C. , Currie J. 
Published: January 2005

AbstractCognitive function was examined in 6 patients with genetically confirmed Machado‐Joseph disease (MJD) and 15 age‐and ethnically matched controls using a series of subtests from the Cambridge Neuropsychological Test Automated Battery (CANTAB), a touch screen‐based testing system previously validated in a number of movement and neurodegenerative disorders. The MJD patients had deficits in visual attentional function that were characterized by a slowing of the processing of visual information when task demands were high and an inability to shift attention to previously irrelevant stimulus dimensions to discriminate between complex stimuli. Tests of learning and visual memory were normal. These results demonstrate that specific cognitive deficits occur in patients with MJD, independent of motor dysfunction, and these deficits may reflect disruption to frontosubcortical pathways.
Western versus asian types of multiple sclerosis: Immunogenetically and clinically distinct disorders
Authors: Yamasaki Kenji , Kira Jun‐Ichi , Kawano Yuji , Kobayashi Takuro , Kanai Takayuki , Nishimura Yasuhara , Matsushita Sho , Hasuo Kanehiro , Tobimatsu Shozo 
Published: January 2005

AbstractThe polymorphism of HLA‐DRBI, ‐DRB3, and ‐DRB5 genes as well as magnetic resonance images of the brain and spinal cord were studied in 57 Japanese patients with multiple sclerosis (MS). Twenty‐three patients clinically displayed selective involvement of the optic nerve and spinal cord and were classified as having Asian‐type MS. Patients with Asian‐type MS had fewer brain lesions shown gy magnetic resonance imaging, but more gadolinium‐enhanced spinal cord lesions than did patients with Western‐type MS (47% vs 17%). Fruthermore, the DR2‐associated DRBI1501 allele and DRB50101 allele were associated with Western‐type MS (41.2%), but not with either Asian‐type MS (0%) or healthy control subjects (14.2%). Heterogeneity inthe immunogenetic background and in the magnetic resonance imaging features between the two subtypes of MS thus suggests the presence of two etiologically distinct diseases in Asians.
Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies
Authors: Meijerink Peter H. S. , Zorn Ina , Baas Frank , de Visser Marianne , Bolhuis Pieter A. , Hoogendijk Jessica E. , Veldman Henk , Gabreëls‐Festen Anneke A. W. M. 
Published: January 2005

AbstractMutations in the major peripheral myelin protein zero (P0) gene on chromosome 1q21‐q23 have been found with the hereditary demyelinating polyneuropathy Charcot‐Marie‐Tooth type 1B. Here, we describe 2 patients with distinct neurological characteristics, carrying different substitutions at the same codon—Arg69His and Arg‐69Cys. The patients were heterozygous for the mutation, which in both appeared to be de novo. Histological examination of sural nerve biopsy specimens revealed defective myelin as well as marked differences, confirming the importance of P0 in the compaction of myelin.
Clinical and molecular genetic features of congenital spinal muscular atrophy
Authors: Devriendt Koenraad , Schollen Els , Cassiman Jean‐Jacques , Fryns Jean‐Pierre , Matthijs Gert , Lammens Martin , van Hole Chris , Devlieger Hugo , Dom René 
Published: January 2005

AbstractA neonate presented with the fetal hypokinesia sequence and signs of spinal muscular atorphy (SMA). Severe pathological changes including ballooned neurons and neuronophagia were found not only in themotor nerve nuclei but also in the thalamic, cerebellar, and brainstem nuclei as well as in the dorsal root ganglia. Direct DNA analysis showed the presence of chimeric SMN gene, with a rearrangment occurring between exon 7 of the centromeric SMN gene and exon 8 of the telomeric SMN gene. Circumstantial evidence suggests that only a single copy of this gene is present, with transciriptional characeristics of a centromeric SMN gene. In addition, a homozygous deletion in the NAIP genes was demonstrated. This observation demonstrates that at least some cases with fetal hypokinesia and SMA may represent the severe end of a spectrum of disorders caused by deletions in the SMA locus on chromosome 5q13. In addition, these findigns are compatible with a modifying role for the centromeric SMN genes and the NAIP genes in the severitiy of the SMA phenotype.
End‐plate acetylcholine receptor deficiency due to nonsense mutations in the ε subunit
Authors: Engel Andrew G. , Ohno Kinji , Bouzat Cecilia , Sine Steven M. , Griggs Robert C. 
Published: January 2005

AbstractWe describe a congenital myasthenic syndrome associated with severe end‐plate (EP) acetylcholine receptor (AChR) deficiency not associated with an EP myopathy, and with evidence of immature AChR, containing the γ instead of the epsiv; subunit (γ‐AChR) at the EPs. Molecular genetic analysis of AChR‐subunit genes revealed two mutations in the ε‐subunit gene: insertion of a thymine after ε nucleotide 1101 (ε1101insT) that generates a nonsense condon directly, and insertionof a guanine after ε nucleotide 1293 (ε1293insG) that generates three missense codons followed by a nonsense codon. Each mutation predits truncation of the ε subunit at the level of the long cytoplasmic loop, between the third (M3) and fourth (M4) membrane spanning domains. The propositus' asymptomatic son carries ε1293G, indicating that the two mutations are heteroallelic. Expression of AChR harboring either mutation in human embryonic kidney (HEK) fibroblasts was markedly reduced. Single‐channel activit recorded from HEK cells cells expressin ε 1101insT‐AChR was infrequent but resembled activty of wild‐tpe AChR channels in amplitude and open duration. No channel activity could be recorded from HEK cells expressing ε 1293insG‐AChR. Expression of γAChR at the EPs may serve as the means of phenotypic rescue from potentially fatal nonsense mutations in the ε‐subunit gene.
X‐linked vacuolated myopathy: Membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma
Authors: Louboutin Jean‐Pierre , Villanova Marcello , Lucas‐Hérson Brigitte , Fardeau Michel 
Published: January 2005

AbstractCytochemical localization of calcium on muscle fibers from patients with X‐linked vocuolated myopathy demonstrated strong sarcolemmal or vacuolar calcium deposits in histologically abnormal muscle fibers. All membrane attack complex—positive fibers demonstrated such calcium accumulation. Total content of calcium was significantly elevated in muscles from patients with X‐linked vacuolated myopathy compared to control muscles. Taken together, these results suggest that calcium accumulation on sarcolemma could be probably secondary to membrane attack complex deposition on the cell surface.
Muscle—eye—brain disease: A neuropathological study
Authors: Haltia M. , Leivo I. , Somer H. , Pihko H. , Paetau A. , Kivelä T. , Tarkkanen A. , Tomé F. , Engvall E. , Santavuori P. 
Published: January 2005

AbstractA combination of congenital central nervous, ocular and muscular abnormalities is characteristic of muscle—eye—brain disease (MEB), of Fukuyama congenital muscular dystrophy (FCMD), and of Walker‐Warburg syndrome (WWS). The nosological relationship of these inherited malformative disorders is still unestablished, although the genetic locus for FCMD has been excluded in MEB. We present the first postmortem neuropathological study of MEB based on 2 male patients. Apart from sharply limited occipital agyric areas, their brain showed coarse gyri with an abnormally nodular surface („cobblestone cortex”︁). Both the cerebral and cerebellar cortices showed a total disorganization without horizontal lamination. The haphazardly oriented cortcal neurons formed irregular custers or islands, separated by gliovascular strands extending from the pia. The ocular abnormalities included a pronounced glial preretinal membrane. Although MEB shares the cobblestone cortex—type malformation with FCMD and WWS, the cerebral and ocular manifestations are less severe than in WWS. Furthermore, a consistently weak staining for laminin α2 chain (merosin) was found in muscle biopsy specimens from 4 MEB patients, while normal immunoreactivity was observed for the laminin α2 chain, reported to be severely deficient in WWS. These finding support nosological independence of MEB.
Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia
Authors: Hart Ian K. , Waters Caroline , Vincent Angela , Newland Claire , Beeson David , Pongs Olaf , Morris Christine , Newsom‐Davis John 
Published: January 2005

AbstractAntibody‐mediated autoimmunity underlies a diverse range of disorders, particularly in the nervous system where the extracellular domains of ion channels and receptors are especially vulnerable targets. We present here a novel means of detecting autoantibodies where the genes of the suspected target proteins are known, and use it to detect specific autoantibodies in acquired neuromyotonia (Isaacs' syndrome), a disorder characterized by hyperexcitable motor nerves and sometimes by central abnormalities. We expressed different human brain voltage‐gated potassium channels in Xenopus oocytes by injecting the relevant α‐subunit complementary RNA, and detected antibody binding by immunohistochemistry on frozen sections. Antibodies were detected to one or more human brain voltage‐gated potassium channel in 12 of 12 neuromyotonia patients and none of 18 control subjects. The results establish neuromyotonia as a new antibody‐mediated channelopathy and indicate the investigative potential of this molecular immunohistochemical assay.
Appropriate number of plasma exchanges in Guillain‐Barré syndrome
Authors:   The French Cooperative Group on Plasma Exchange in Guillain‐Barré Syndrome
Published: January 2005

AbstractPlasma exchange (PE) is the standard treatment in Guillain‐Barré syndrome (GBS) patients who have lost the ability to walk. The effect of exchanges before this stage and the optimal number of exchanges for the other patients are still unknown. We randomized 556 GBS patients according to severity and number of exchanges as follows: Zero versus 2 PEs for patients who could walk—with or without aid—but not run, or who could stand up unaided (mild group); 2 versus 4 PEs for patients who could not stand up unaided (moderate group); and 4 versus 6 PEs for mechanically ventilated patients (severe group). In the mild group, 2 PEs were more effective than none for time to onset of motor recovery (median, 4 vs 8 days, respectively). In the moderate group, 4 PEs were more beneficial than 2 for time to walk with assistance (median, 20 vs 24 days) and for 1‐year full muscle‐strength recovery rate (64% vs 46%). Six PEs were no more beneficial than 4 in the severe cases. Patients with mild GBS on admission should receive 2 PEs. Patients with moderate and severe forms should benefit from 2 further exchanges.