Abstract:
:We measured the activities of the enzymes responsible for the metabolism of the excitotoxin quinolinic acid, 3-hydroxyanthranilate oxygenase and quinolinic acid phosphoribosyltransferase, in autopsied brain of 11 patients with olivopontocerebellar atrophy. In cerebellar cortex, severe Purkinje cell loss was evident but with relative preservation of granule cells. As compared with the control subjects (n = 14), mean activity of 3-hydroxyanthranilate oxygenase was normal in cerebellar cortex from the patients with olivopontocerebellar atrophy, whereas quinolinic acid phosphoribosyltransferase activity was markedly increased (+92%, p less than 0.02). No significant changes in enzyme activities were found in samples from occipital cortex. Increased quinolinic acid phosphoribosyltransferase activity may represent a mechanism, in the degenerating cerebellum, to protect quinolinic acid-sensitive granule cells in patients with olivopontocerebellar atrophy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Kish SJ,Du F,Parks DA,Robitaille Y,Ball MJ,Schut L,Hornykiewicz O,Schwarcz Rdoi
10.1002/ana.410290119subject
Has Abstractpub_date
1991-01-01 00:00:00pages
100-4issue
1eissn
0364-5134issn
1531-8249journal_volume
29pub_type
杂志文章abstract:OBJECTIVE:Accumulation of mitochondrial DNA (mtDNA) damage has been associated with aging and abnormal oxidative metabolism. We hypothesized that in human immunodeficiency virus-associated sensory neuropathy (HIV-SN), damaged mtDNA accumulates in distal nerve segments, and that a spatial pattern of mitochondrial dysfun...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22150
更新日期:2011-01-01 00:00:00
abstract::Ten laminin alpha2-deficient patients were identified by both immunofluorescence and immunoblotting (30% of congenital muscular dystrophy patients tested). Three of the laminin alpha2-deficient patients were carrying a diagnosis of infantile polymyositis prior to immunostaining studies. The clinical features in the 10...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400515
更新日期:1996-11-01 00:00:00
abstract:OBJECTIVE:We compared outcomes after treatment with direct oral anticoagulants (DOACs) and vitamin K antagonists (VKAs) in patients with atrial fibrillation (AF) and a recent cerebral ischemia. METHODS:We conducted an individual patient data analysis of seven prospective cohort studies. We included patients with AF an...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25489
更新日期:2019-06-01 00:00:00
abstract::Recently, the mutation causing early-onset generalized torsion dystonia has been identified as a GAG deletion in the gene for an adenosine triphosphate-binding protein named torsinA. We describe a German family with 5 clinically affected individuals carrying this mutation. In at least 4 of the 5 patients, the disease ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440119
更新日期:1998-07-01 00:00:00
abstract:OBJECTIVE:Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS:We reviewed 124 patients stra...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24485
更新日期:2015-10-01 00:00:00
abstract::The nucleus basalis of Meynert, which supplies diffuse cholinergic fibers to the cerebral neocortex, was investigated in two cases of parkinsonism-dementia complex of Guam (PDG). The nucleus basalis of the two PDG patients showed extensive neuron loss when compared with age-matched non-Guamanian controls, suggesting t...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130118
更新日期:1983-01-01 00:00:00
abstract:OBJECTIVE:Narcolepsy is caused by the loss of hypocretin/orexin neurons in the hypothalamus, which is likely the result of an autoimmune process. Recently, concern has been raised over reports of narcolepsy in northern Europe following H1N1 vaccination. METHODS:The study is a retrospective analysis of narcolepsy onset...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22587
更新日期:2011-09-01 00:00:00
abstract::Seven patients with postfacial palsy contracture and mass contractions were investigated electrophysiologically. In 3 patients the early blink reflex showed an unusually high amplitude, which can be attributed to enhanced excitability of facial motor neurons. In 5 patients the early blink reflex had acquired a crossed...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020114
更新日期:1977-07-01 00:00:00
abstract::We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesse...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200209
更新日期:1986-08-01 00:00:00
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journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390218
更新日期:1996-02-01 00:00:00
abstract::A 45-year-old woman was diagnosed as having the unclassified form of botulism. Her intestines may have been predisposed to colonization with Clostridium botulinum because of a jejunoileal bypass procedure that had been done several years earlier. One other similar case has been reported. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200516
更新日期:1986-11-01 00:00:00
abstract::Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410350204
更新日期:1994-02-01 00:00:00
abstract::We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199906)45:6<820::aid-ana22>3.0.c
更新日期:1999-06-01 00:00:00
abstract:OBJECTIVE:Although electrophysiologic dysfunction of the subthalamic nucleus is putative, deep brain stimulation of this structure has recently been reported to improve obsessions and compulsions. In Parkinson disease, sensorimotor subthalamic neurons display high-frequency burst firing, which is considered as an elect...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22222
更新日期:2011-05-01 00:00:00
abstract::A recent controlled clinical trial suggested a role for amantadine as a treatment for pathological gambling in patients with Parkinson disease (PD). Analyzing data from a large cross-sectional study of impulse control disorders (ICDs) in PD, amantadine use (n = 728), vs no amantadine use (n = 2,357), was positively as...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22164
更新日期:2010-12-01 00:00:00
abstract::Residual tumor cells remain beyond the margins of every glioblastoma (GBM) resection. Their resistance to postsurgical therapy is considered a major driving force of mortality, but their biology remains largely uncharacterized. In this study, residual tumor cells were derived via experimental biopsy of the resection m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22036
更新日期:2010-08-01 00:00:00
abstract::The amygdala and its subnuclei undergo severe volumetric atrophy in Alzheimer's disease (AD). To determine whether this atrophy is due to loss of neuropil, specific neuronal populations, or both, we evaluated the number, size, and packing density of neurons and glia in the cortical and magnocellular basal amygdaloid s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320412
更新日期:1992-10-01 00:00:00
abstract:OBJECTIVE:A better understanding of the manuscript peer-review process could improve the likelihood that research of the highest quality is funded and published. To this end, we aimed to assess consistency across reviewers' recommendations, agreement between reviewers' recommendations and editors' final decisions, and ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24218
更新日期:2014-08-01 00:00:00
abstract::The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demonstrate anisotropy in the corticospinal tracts of the basis pontis in...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-01-01 00:00:00
abstract::This study assessed whether or not levodopa induces dyskinesias in normal (ie, unlesioned) squirrel monkeys. All six animals treated twice daily with levodopa (15 mg/kg with carbidopa by oral gavage) for two weeks developed choreoathetoid dyskinesias, whereas none of the vehicle-treated animals displayed any abnormal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1099
更新日期:2001-08-01 00:00:00
abstract:OBJECTIVE:A study was undertaken to establish an enzyme-linked immunosorbent assay (ELISA) to detect JC virus (JCV)-specific antibodies in multiple sclerosis (MS) patients, and to evaluate its potential utility for identifying patients at higher or lower risk (ie, risk stratification) of developing progressive multifoc...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22128
更新日期:2010-09-01 00:00:00
abstract::The disappearance rates from plasma of intravenously administered levo-norepinephrine (l-NE), dextro-norepinephrine (d-NE), and isoproterenol (ISO) were measured in normal subjects and in patients with either multiple-system atrophy (MSA) or idiopathic orthostatic hypotension (IOH). The two isomers, l-NE and d-NE, wer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180109
更新日期:1985-07-01 00:00:00
abstract::The activities of complex I and complex II/III in platelet mitochondria are reduced in patients with early, untreated Parkinson's disease. Coenzyme Q10 is the electron acceptor for complex I and complex II. We found that the level of coenzyme Q10 was significantly lower in mitochondria from parkinsonian patients than ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420221
更新日期:1997-08-01 00:00:00
abstract::We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:Antiepileptic drugs (AEDs) are important for the treatment of epilepsy, psychiatric diseases, and pain syndromes. Small studies have suggested that AED treatment reduces serum levels of folate and vitamin B12. METHODS:This prospective monocenter study aimed at testing the hypothesis that AED treatment is ass...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22229
更新日期:2011-02-01 00:00:00
abstract::In view of the favorable claims of Cook and others, an open trial of chronic dorsal column stimulation was undertaken in 9 patients who had moderately advanced multiple sclerosis (MS) but were still ambulatory. No objective improvement was noted by either author during the postoperative observation period of 6 to 37 m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060115
更新日期:1979-07-01 00:00:00
abstract::We report on a 28-year-old man with long-standing intractable complex partial and secondary generalized seizures, whose magnetic resonance imaging scans 4 years apart documented progressive decrease in the left hippocampal volume. Left anterior temporal lobectomy with amygdalohippocampectomy rendered the patient seizu...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:1999-04-01 00:00:00
abstract::Membrane cofactor protein (CD46) is a member of a family of glycoproteins that are regulators of complement and prevent activation of complement on autologous cells. Recently, CD46 has been identified as the cellular receptor for human herpesvirus Type 6 (HHV-6). Elevated levels of soluble CD46 have been described in ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1135
更新日期:2001-10-01 00:00:00
abstract:OBJECTIVE:Delayed cerebral ischemia (DCI) is a common, disabling complication of subarachnoid hemorrhage (SAH). Preventing DCI is a key focus of neurocritical care, but interventions carry risk and cannot be applied indiscriminately. Although retrospective studies have identified continuous electroencephalographic (cEE...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25232
更新日期:2018-05-01 00:00:00
abstract:OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20750
更新日期:2006-02-01 00:00:00