bluuebunny/crossref_metadata_2025_split huggingface dataset:
Glycogen branching enzyme deficiency in adult polyglucosan body disease
Authors: Bruno Claudio , Servidei Serenella , Shanske Sara , Karpati George , Carpenter Stirling , McKee David , Barohn Richard J. , Hirano Michio , Rifai Ziad , Dimauro Salvatore 
Published: January 2005

AbstractBranching enzyme activity was assayed in muscle, peripheral nerve, and leukocytes from 2 Ashkenazi‐Jewish patients with adult polyglucosan body disease and 1 African‐American and 3 Caucasian patients with the same clinical and pathological features. Branching enzyme activity was normal in the muscle specimens from both Jewish and non‐Jewish patients. However, the activity was markedly decreased not only in the leukocytes from the 2 Jewish patients (confirming previous findings), but also in peripheral nerve specimens, whereas it was normal in nerve tissue and leukocytes from all non‐Jewish patients. These data confirm a branching enzyme deficiency in a subgroup of patients with adult polyglucosan body disease, and show that the defect is tissue‐specific, suggesting that adult polyglucosan body disease has more than one biochemical basis.
The neurological complications of sepsis
Authors: Bolton Charles F. , Bryan G. Young , Zochodne Douglas W. 
Published: January 2005

AbstractEncephalopathy and polyneuropathy occur in 70% of septic patients. The encephalopathy is diffuse, appears early, is often severe, but reverses quickly with successful treatment of the sepsis. The electroencephalogram is a sensitive indicator of the incidence and severity of the encephalopathy, but computed tomograms of the brain and cerebrospinal fluid findings are unremarkable. Critical‐illness polyneuropathy develops later and in association with multiple‐organ failure. Recovery is more gradual. Difficulty in weaning from the ventilator is an important early manifestation. Electromyography should be routinely performed to establish the diagnosis. The polyneuropathy is a primary axonal degeneration, predominantly of distal motor fibers. A persistent deficit may eventuate in severe cases. Whether muscle is affected as consistently as brain and peripheral nerve, and by the same process, has not been determined. Medications used in critical care units, notably sedatives and neuromuscular blocking agents, often confuse the clinical picture. The neurological pathophysiology is unknown but current evidence suggests that nervous system dysfunction arises through the same mechanisms as for systemic organs in the septic syndrome.
Assessment of reliability and biological significance of glutamate levels in cerebrospinal fluid
Authors: Ferrarese Carlo , Pecora Nicoletta , Frigo Maura , Appollobnio Ildebrando , Frattola Lodovico 
Published: January 2005

AbstractThe published information on glutamate levels in cerebrospinal fluid (CSF) and modifications in neurological disorders is controversial. In the present study, we demonstrated a metabolic instability of glutamare in untreated CSF and a spurious elevation of its levels by the current methods of CSF acidification. These findings may explain the discrepancies observed with different methods of CSF processing and analysis. We suggest a method of inactivating CSF enzymes that yields stable glutamate levels under different storage conditions. Use of such a method may be necessary for clinical studies.
Can neurologists survive or thrive with health care reform?
Authors: Ringel Steven P. 
Published: January 2005

AbstractThe economics of present‐day health care and the politics of recent elections will forever change the practice of neurology. Managed care, outcomes research, limits on price and volume of services, diagnostic and treatment restraint, divestiture of ownership in health facilities, malpractice reform, increased use of preventive services, and administrative simplifications will all be part of the new practice of medicine, and hence neurology. The challenge for neurologists will be to define cost‐effective neurological services, put greater emphasis on the most prevalent and costly diseases of the nervous system, and convince primary care providers and patients of their value. Health care reform is an opportunity and challenge for neurologists to improve patient access while achieving acceptable financing mechanisms.
Effects of terguride, a partial D2 agonist, on MPTP‐lesioned parkinsonian cynomolgus monkeys
Authors: Akai Tetsuo , Yamaguchi Motonori , Mizuta Eiji , Kuno Sadako 
Published: January 2005

AbstractBehavioral effects of terguride, a partial dopamine D2 agonist, on 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP)–lesioned parkinsonian cynomolgus monkeys were compared with those of the dopamine agonist apomorphine and the dopamine antagonist haloperidol. Terguride alone ameliorated the parkinsonism without inducing any sign of excitability, irritability, or aggressiveness (hyperactivity). Apomorphine alone also ameliorated the parkinsonism but induced marked hyperactivity. Haloperidol alone caused worsening of the parkinsonism, inducing transient eyelid closure. In combination with apomorphine, terguride suppressed the hyperactivity induced by apomorphine without reducing its antiparkinsonian effets. Pretreatment with haloperidol suppressed both the antiparkinsonian effects and the hyperactivity induced by apomorphine. Terguride thus exhibits both antiparkinsonian and antihyperactivity effects in a monkey model of Parkinson's disease, suggesting that terguride might be beneficial for treating motor dysfunction and dopaminergic psychosis in advanced Parkinson's disease.
Skew deviation with ocular torsion: A vestibular brainstem sign of topographic diagnostic value
Authors: Brandt Thomas , Dieterich Marianne 
Published: January 2005

AbstractFifty‐six patients with unilateral brainstem infarctions presenting with skew deviation of the eyes were analyzed for static vestibular function in the roll plane. Ischemic lesions were allocated to the level and side of the brainstem by the clinical syndrome and neuroimaging. Two findings of clinical relevance were obtained: (1) All skew deviations were ipsiversive (ipsilateral eye was undermost) with caudal pontomedullary lesions and contraversive (contralateral eye was lowermost) with rostral pontomesencephalic lesions. (2) All skew deviations were associated with concomitant ocular torsion and tilts of subjective visual vertical toward the undermost eye. Thus, skew deviation or more correctly, ocular skew torsion is a sensitive brainstem sign of localizing and lateralizing value. Evidence is presented that the ocular skew torsion sign indicates a vestibular tone imbalance in the roll plane secondary to graviceptive pathway lesions.
Newly recognized congenital myasthenic syndrome associated with high conductance and fast closure of the acetylcholine receptor channel
Authors: Engel Andrew G. , Uchitel Osvaldo D. , Walls Timothy J. , Nagel Alexander , Harper C. Michael , Bodensteiner John 
Published: January 2005

AbstractWe describe here a new congenital myasthenic syndrome associated with a kinetic abnormality of the acetylcholine receptor (AChR) channel. The propositus had poor suck and cry after birth. Subsequently, she had intermittent ocular symptoms and fatigued abnormally on exertion. At age 9 years, significant weakness was detected only in the frontalis, levator palpebrae, and neck flexor muscles. Electromyography showed no decrement in limb muscles but single‐fiber examination of the facial muscles was consistent with a neuromuscular transmission defect. The ocular symptoms responded partially to pyridostigmine, but the abnormal fatigability did not. Tests for anti‐AChR antibodies were negative. A younger sister had elements of the same disease. An intercostal muscle specimen was obtained from the propositus at age 9 years for endplate studies. The quantal content of the endplate potential was normal. Miniature endplate currents were abnormally large and their decay time constant was abnormally short. AChR channel properties were studied by analysis of acetylcholine‐induced current noise. The mean single‐channel conductance was increased 1.7‐fold and the mean channel open time was 30% shorter than normal. The number of AChR per endplate was normal. Electron microscopy of most endplates showed no abnormality, but a few were degenerating or simplified. The channel abnormality may stem from a point mutation in an AChR subunit affecting a single amino acid residue lining the pore of the AChR channel. The mechanism by which the physiological abnormality produces clinical symptoms is not known, but possible explanations are considered.
Serum antibodies to GM1, GD1b, peripheral nerve myelin, and Campylobacter jejuni in patients with Guillain‐Barré syndrome and controls: Correlation and prognosis
Authors: Vriesendorp Francine J. , Mishu Ban , Blaser Martin J. , Koski Carol L. 
Published: January 2005

AbstractSerum antibodies to monosialoganglioside (GM1), disialoganglioside (GD1b), and Campylobacter jejuni, measured by enzyme‐linked immunosorbent assay and serum antibodies to peripheral nerve myelin, measured by the C1 fixation and transfer assay, were studied in 58 acute‐phase patients with Guillain‐Barré syndrome (GBS), 42 disease controls, and 29 normal controls. Anti‐peripheral nerve myelin antibodies were elevated in 57 of 58 patients with GBS compared with controls, whereas only 8.6% had increased antibody titers to GM1 and 10.3% to GD1b. Only low antibody titers (GM1) or no antibodies (GD1b) were found in controls. More GBS patients (17.2%) than controls (7%) had antibodies to C jejuni. Poor recovery with inability to walk at 1 year after onset of symptoms was seen in 3 (5%) of the patients with GBS. All 3 patients had serological evidence of recent C jejuni infection but no antibodies to GM1 or GD1b. GBS patients with antibodies to GM1 or GD1b had excellent recovery. Our data indicate that antibodies to GM1 or GD1b do not necessarily mediate the extensive axonal damage seen in these severely affected patients.
Positron emission tomographic findings in Filipino X‐linked dystonia–parkinsonism
Authors: Eidelberg D. , Takikawa S. , Wilhelmsen K. , Dhawan V. , Chaly T. , Robeson W. , Dahl R. , Margouleff D. , Greene P. , Hunt A. , Przedborski S. , Fahn S. 
Published: January 2005

AbstractRegional and global metabolic rates for glucose (rCMRGlc and GMR) were estimated using [18F]fluorodeoxyglucose and positron emission tomography in 3 patients with Filipino X‐linked dystonia‐parkinsonism (lubag). In all 3 patients a selective reduction in normalized striatal glucose metabolism (rCMRGlc/GMR) was observed compared with 15 normal volunteer subjects. Presynaptic nigrostriatal function was assessed in these patients using [18F]fluorodopa and positron emission tomography. Striatal rate constants for [18F]fluorodopa uptake were found to be in the normal range in all 3 patients with lubag. These findings suggest that the extrapyramidal manifestations of lubag are metabolically localized to the striatum and that clinical parkinsonism in these patients may be secondary to extranigral factors.
The polymerase chain reaction in the diagnosis of Lyme neuroborreliosis
Authors: Pachner Andrew R. , Delaney Elizabeth 
Published: January 2005

AbstractThe polymerase chain reaction is sensitive and specific in the detection of defined DNA sequences and holds promise for diagnosing the presence of fastidious microorganisms in human infectious diseases. We developed a methodology for nested polymerase chain reaction and hybridization analysis of the cerebrospinal fluid using primers from a genomic Borrelia burgdorferi sequence and applied it to the cerebrospinal fluid (CSF) of patients suspected of having Lyme neuroborreliosis and other diseases. Polymerase chain reaction and hybridization demonstrated extremely high sensitivity for spirochetal DNA, and was highly specific, with a false‐positivity rate of less than 3%. However, the results were negative or indeterminate in 54% of CSF samples from patients with definite or probable disease, indicating an absence, or extremely low level, of spirochetes or spirochetal DNA in a significant percentage of patients with Lyme neuroborreliosis. Polymerase chain reaction and hybridization of the CSF can thus be considered a useful adjunct in diagnosis, but its negativity does not rule out Lyme neuroborreliosis.
β‐Amyloid precursor epitopes in muscle fibers of inclusion body myositis
Authors: Askanas Valerie , Alvarez Renate B. , Engel W. King 
Published: January 2005

AbstractSporadic inclusion body myositis (IBM) and hereditary inclusion body myopathy (hIBM) are severe and progressive muscle diseases, characterized pathologically by vacuolated muscle fibers that contain 15‐ to 21‐nm cytoplasmic tubulofilaments (CTFs). Those vacuolated muscle fibers also contain abnormally accumulated ubiquitin and β‐amyloid protein (Aβ), and they contain amyloid in β‐pleated sheets as indicated by Congo red and crystal violet positivity. Using several well‐characterized antibodies, we have now demonstrated that, in addition to Aβ, two other epitopes, N‐terminal and C‐terminal, of the β‐amyloid precursor protein (βPP) are abnormally accumulated in IBM vacuolated muscle fibers and similarly in hIBM. At the light microscopy level, immunoreactivities of N‐ and C‐epitopes of βPP closely colocalized with Aβ and ubiquitin immunoreactivities. However, by immunogold electronmicroscopy, even though N‐, C‐, and Aβ epitopes of βPP and ubiquitin colocalized at the amorphous and dense floccular structures, only Aβ was localized to the 6‐ to 10‐nm amyloid‐like fibrils and only ubiquitin was localized to CTFs. βPP immunoreactive structures were often in proximity to CTFs, but CTFs themselves never contained βPP immunoreactivities. The fact that Aβ but not C‐ or N‐terminal epitopes of βPP localized to the 6‐ to 10‐nm amyloid‐like fibrils suggests that free Aβ might be generated during βPP processing and, after aggregation, may be responsible for the amyloid present within IBM muscle fibers. Our study demonstrates that three epitopes of βPP accumulate abnormally in diseased human muscle, and therefore this phenomenon is not unique to Alzheimer's disease, Down's syndrome brain, and Dutch‐type cerebrovascular amyloidosis.
Procedural learning in Parkinson's disease and cerebellar degeneration
Authors: Pascual‐Leone A. , Grafman J. , Clark K. , Stewart M. , Massaquoi S. , Lou J‐S. , Hallett M. 
Published: January 2005

AbstractWe compared procedural learning, translation of procedural knowledge into declarative knowledge, and use of declarative knowledge in age‐matched normal volunteers (n = 30), patients with Parkinson's disease (n = 20), and patients with cerebellar degeneration (n = 15) by using a serial reaction time task. Patients with Parkinson's disease achieved procedural knowledge and used declarative knowledge of the task to improve performance, but they required a larger number of repetitions of the task to translate procedural knowledge into declarative knowledge. Patients with cerebellar degeneration did not show performance improvement due to procedural learning, failed to achieve declarative knowledge, and showed limited use of declarative knowledge of the task to improve their performance. Both basal ganglia and cerebellum are involved in procedural learning, but their roles are different. The normal influence of the basal ganglia on the prefrontal cortex may be required for timely access of information to and from the working memory buffer, while the cerebellum may index and order events in the time domain and be therefore essential for any cognitive functions involving sequences.
Recurrent ascending myelitis: An unusual presentation of herpes simplex virus type 1 infection
Authors: Shyu Woei‐Cherng , Lin Jiann‐Chyun , Chang Bao‐Chy , Harn Horng‐Jyh , Lee Chan‐Chin , Tsao Wen‐Long 
Published: January 2005

AbstractWe report on a healthy female with a unique relapsing transverse myelitis accompanied by herpes simplex virus type 1 (HSV‐1) infection. Magnetic resonance imaging showed cord enlargement and increased signal intensity on T1‐weighted image with gadolinium enhancement from T‐4 to T‐10 during the first attack and from C‐1 to C‐2 during the second episode. She was not diagnosed during the first attack. During the second episode, laboratory studies disclosed IgM and IgG antibodies to HSV at the outset with greater than fourfold increases in antibody levels in the serum and cerebrospinal fluid (CSF). Cells cultured from the CSF were positive for HSV‐1 according to the immunofluoresecnce method. The presence of HVS‐1 DNA in CSF was documented by polymerase chain reaction (PCR) technique. Acylovir was given with a partial recovery. We anticipate that PCR assay of CSF will assist early diagnosis of herpetic central nervous system disorders.
Disequilibrium of unknown cause in older people
Authors: Fife Terry D. , Baloh Robert W. 
Published: January 2005

AbstractMany older people complain of a sense of unsteadiness when standing or walking and many are fearful of falling. The cause of this disequilibrium is often difficult to determine even after thorough clinical evaluation. To better understand the pathogenesis of this symptom in a community‐dwelling population, we studied 26 patients >75 years old who complained of disequilibrium in whom no cause was evident after clinical evaluation. Each patient and each of 26 age‐matched controls underwent a comprehensive evaluation that included a history and examination, a questionnaire, functional scales, a gait and balance scale, mini‐mental state testing, audiometry, visual acuity, visual tracking, rotational vestibular testing, and quantitative posturography. Although none had Romberg's sign, patients tended to sway more and do poorer on semiquantitative gait and balance testing than did controls. Patients showed few differences from controls for most other measurements. However, 7 patients, designated Group V, had profoundly reduced vestibular function. In the remaining 19 patients (Group D), the average vestibular function was still significantly lower than controls. Sway velocity measured with posturography was increased in the patients compared with controls, particularly in Group V patients. Measures of vestibular function correlated with increased sway velocity both in Group D alone and among all study participants. Quantitative measurement of vestibular function should be considered in older people complaining of disequilibrium, particularly if the cause is not apparent after the initial evaluation.
Short‐term response to dietary therapy in molybdenum cofactor deficiency
Authors: Boles Richard G. , Ment Laura R. , Meyn M. Stephen , Horwich Arthur L. , Kratz Lisa E. , Rinaldo Piero 
Published: January 2005

AbstractMolybdenum cofactor deficiency was diagnosed in a 3‐month‐old girl who presented with microcephaly, developmental delay, severe irritability, and lactic acidosis. Dietary methionine restriction, with cysteine supplementation, was associated with moderate short‐term clinical improvement, including a resumption in predicted head growth, modest developmental progress, and a reduction in irritability. Clinical relapse was associated with noncompliance of dietary therapy 2 months later. Urinary sulfite levels measured by commercial dipsticks were useful in following therapy. Molybdenum cofactor deficiency is probably frequently underdiagnosed due to the lack of specific clinical or laboratory features. Screening of infants at risk for the presence of urinary sulfites or serum hypouricemia, or both, is both rapid and inexpensive.
A new inherited prion disease (PrP‐P105L mutation) showing spastic paraparesis
Authors: Kitamoto Tetsuyuki , Amano Naoji , Terao Yasu , Nakazato Yoshihiko , Isshiki Toshiyuki , Mizutani Tomohiko , Tateishi Jun 
Published: January 2005

AbstractWe report the clinicopathological findings of 5 patients with an inherited prion disease with a codon 105 (Pro to Leu) mutation. All of the patients had a spastic gait disturbance and progressive dementia without either cerebellar signs, myoclonus, or periodic synchronous discharges. Autopsy of 3 patients revealed numerous amyloid plaques in the cerebral cortex, especially in the motor cortex and the frontal lobe where neuronal loss and severe gliosis were observed in the absence of spongiform changes. The cerebellum was preserved histologically except for only a few amyloid plaques. The pyramidal tracts in the brainstem and spinal cord showed vacuolated changes and a loss of myelin, but no prion protein accumulations. Thus, the prion protein codon 105 mutation is considered to correspond to a new variant to the Gerstmann‐Sträussler syndrome with spastic paraparesis.
Familial parkinsonism with depression: A clinicopathological study
Authors: Bhatia K. P. , Daniel S. E. , Marsden C. D. 
Published: January 2005

AbstractA family with autosomal dominant inheritance of an early‐onset and rapidly progressive parkinsonian syndrome and associated severe depression is reported. Three members had parkinsonism with depression, 3 had parkinsonism alone, and 2 suffered depression only. Pathological brain examination in 2 members with parkinsonism and depression revealed distinctive changes, with devastation of the substantia nigra, scarce Lewy bodies, and gliosis of the caudate nucleaus and globus pallidus. The clinical and pathological findings were similar to those in four previously described families with autosomal dominant parkinsonism, depression, and alveolar hypoventilation.
Myotonic dystrophy patients have larger CTG expansions in skeletal muscle than in leukocytes
Authors: Thornton Charles A. , Johnson Keith , Moxley Richard T. 
Published: January 2005

AbstractThe genetic basis of myotonic dystrophy is an unstable expansion of CTG repeats located in a gene on chromosome 19 that encodes a putative serine/threonine protein kinase. We studied the somatic mosaicism of the (CTG)n expansion in myotonic dystrophy patients. (CTG)n expansions were 2‐to 13‐fold greater in DNA isolated from skeletal muscle than in DNA from leukocytes in 10 of 11 patients with myotonic dystrophy. Different muscles of the same individual showed similar (CTG)n expansions. In postmortem tissues from an adult patient, (CTG)n expansions in brain, skeletal muscle, cardiac muscle, testes, and liver were all greater than in leukocytes. Normal myotonic dystrophy gene alleles from 7 healthy subjects had the same number of CTG repeats in leukocytes and muscle. The myotonic dystrophy mutation displays pronounced heterogeneity in somatic cells. The (CTG)n expansion observed in peripheral blood leukocytes is not necessarily representative of the repeat expansion in affected tissues, such as skeletal muscle and myocardium. In some patients with myotonic dystrophy, the predictive value of genetic analysis based on leukocyte DNA may be limited.
Absence of hereditary mutations in exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene in families with glioma
Authors: van Meyel Donald J. , Ramsay David A. , Chambers Ann F. , Macdonald David R. , Cairncross J. Gregory 
Published: January 2005

AbstractInherited mutations of the p53 and neurofibromin genes are thought to cause two distinct neoplastic disorders in which gliomas occur, the Li‐Fraumeni syndrome and neurofibromatosis type 1. We investigated the possibility that inherited mutations in specific regions of these genes also contributed to the clustering of gliomas in otherwise normal families. Twenty‐six members of 16 families with glioma were screened for germline mutations of exons 5 through 9 of the p53 gene and exon 24 of the neurofibromin gene using a polymerase chain reaction–single‐strand conformation polymorphism method. No germline mutations were found, suggesting that the genetic basis of familial glioma is distinct from that of gliomas occurring in the Li‐Fraumeni syndrome, and that inherited mutations of the catalytic domain of neurofibromin do not predispose affected glioma families to these tumors.