Abstract:
:The role of mitochondrial DNA (mtDNA) mutations in the pathogenesis of Leber's hereditary optic neuropathy (LHON) has yet to be characterized. Several clinical features of the disease imply that nuclear genes might also be involved in its expression. We have confirmed the presence of a severe NADH:coenzyme Q1 reductase (complex I) defect in association with the A3460G mtDNA LHON mutation in cultured fibroblasts compared with age-matched controls. This defect was not seen in clonal fibroblasts with 0% mutant mtDNA developed from a heteroplasmic A3460G LHON subject, confirming the association between the A3460G mutation and the complex I defect. Cybrids prepared from the fusion of enucleated fibroblasts homoplasmic for the A3460G mutation with 206 (osteosarcoma) cells lacking mtDNA (p0) also had a severe deficiency of complex I activity. However, in A3460G LHON fusion cybrids containing a different nuclear background, A549 p0 (lung derived), this biochemical defect was not apparent in all the clones studied. These results suggest that the nuclear environment can influence the expression of the biochemical defect in LHON patients with the A3460G mutation.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Cock HR,Tabrizi SJ,Cooper JM,Schapira AHdoi
10.1002/ana.410440208subject
Has Abstractpub_date
1998-08-01 00:00:00pages
187-93issue
2eissn
0364-5134issn
1531-8249journal_volume
44pub_type
杂志文章abstract:OBJECTIVE:To examine the functional neuroanatomy that could account for pure Gerstmann syndrome, which is the selective association of acalculia, finger agnosia, left-right disorientation, and agraphia. METHODS:We used structural and functional neuroimaging at high spatial resolution in healthy subjects to seek a shar...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21776
更新日期:2009-11-01 00:00:00
abstract:OBJECTIVE:Chronic, low-dose exposure to pesticides is suspected to increase the risk for Parkinson's disease (PD), but data are inconclusive. METHODS:We prospectively examined whether individuals exposed to pesticides have higher risk for PD than those not exposed. The study population comprised participants in the Ca...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20904
更新日期:2006-08-01 00:00:00
abstract::The effects on cerebral hemodynamics of venisection and a 4% albumin-saline infusion were studied in six patients with high hematocrit (mean, 51.5%). Cerebral blood flow (CBF) was measured using the xenon 133 intracarotid injection method. Blood gases were measured in arterial and jugular venous blood. Rapid two-stage...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410090507
更新日期:1981-05-01 00:00:00
abstract::Authorship of scientific publications holds great importance for basic and clinical researchers. Academic appointments and promotions, grant funding, and salary support depend to some extent on published recognition through authorship. Peer-recognition and personal satisfaction are additional incentives for authorship...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22232
更新日期:2010-12-01 00:00:00
abstract::In this postmortem study, we investigated the relationship between multiple sclerosis (MS) lesions in the hypothalamus and the state of activity of corticotropin-releasing hormone (CRH)-producing neurons that control the hypothalamus-pituitary-adrenal (HPA) axis. A high incidence (15/16) of MS lesions was found in the...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10766
更新日期:2004-01-01 00:00:00
abstract:OBJECTIVE:Migraine with aura is a severe debilitating neurological disorder with few relatively specific therapeutic options. METHODS:We used amiloride, a blocker of epithelial sodium channels, to evaluate its pharmacological potential and explored the biology of a potential mechanism of action in well-established exp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23653
更新日期:2012-10-01 00:00:00
abstract::Three entities--multiple sclerosis, tropical spastic paraparesis, and human T-lymphotropic virus type I (HTLV-I)-associated myelopathy (HAM)--may represent manifestations of the same disease, with HTLV-I-like virus playing a role in their etiology. Tests for the presence of antibodies reacting with either HTLV-I-like ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230737
更新日期:1988-01-01 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::Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees with...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430514
更新日期:1998-05-01 00:00:00
abstract::Powerful new methods for imaging both brain anatomy and brain function are appearing at an increasing rate. The modern era of minimally invasive, highly informative, neurological diagnostic imaging methods began with the introduction of x-ray computed tomography in the 1970s. More recently, positron emission tomograph...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410320316
更新日期:1992-09-01 00:00:00
abstract::Recent studies reported the presence of anti-ganglioside antibodies in occasional patients with motor neuron disease. We found polyclonal serum IgM anti-GM1 antibodies by an anti-GM1 enzyme-linked immunosorbent assay (ELISA) in 9 (19%) of 48 patients with motor neuron disease. A comparable frequency of IgM anti-GM1 an...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270517
更新日期:1990-05-01 00:00:00
abstract::Previous work has shown that lesions in the lateral cerebellum involving the dentate nucleus impair both reaching and pinching movements in humans and monkeys. This study addressed the question of whether disruption of the cerebellar-thalamo-cortical pathway at the level of the thalamus would produce behavioral defici...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380608
更新日期:1995-12-01 00:00:00
abstract::We reviewed the records of 160 consecutive patients with glioblastoma and anaplastic astrocytoma to evaluate the long-term consequences of radiation therapy and chemotherapy. We defined long-term survivors as those patients with glioblastoma or anaplastic astrocytoma who lived at least 100% longer than median survival...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280614
更新日期:1990-12-01 00:00:00
abstract::The North American study of plasmapheresis in Guillain-Barré syndrome (GBS) included early, standardized electrodiagnostic testing in 210 of the 245 patients. To determine the types of abnormalities and the relation to outcome, we analyzed the prospectively collected motor conduction data obtained during the first 30 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230407
更新日期:1988-04-01 00:00:00
abstract::We demonstrated that an IgM M-protein from a patient with motor neuron syndrome had antibody activity against gangliosides GM1, GD1b, and asialo GM1. Studies with a sugar-binding lectin suggested that the epitope in the patient's M-IgM involved the Gal(beta 1-3) GalNAc moiety. Immunohistological techniques demonstrate...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230517
更新日期:1988-05-01 00:00:00
abstract:OBJECTIVE:Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21628
更新日期:2009-10-01 00:00:00
abstract:OBJECTIVE:Migraine is among the most common and debilitating neurological conditions. Familial hemiplegic migraine type 1 (FHM1), a monogenic migraine subtype, is caused by gain-of-function of voltage-gated CaV 2.1 calcium channels. FHM1 mice carry human pathogenic mutations in the α1A subunit of CaV 2.1 channels and a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24449
更新日期:2015-08-01 00:00:00
abstract:OBJECTIVE:Huntington disease (HD) is an inherited neurodegenerative disease caused by the mutant huntingtin gene (mHTT), which harbors expanded CAG repeats. We previously reported that the brain vessel density is higher in mice and patients with HD than in controls. The present study determines whether vascular functio...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24428
更新日期:2015-08-01 00:00:00
abstract::Cerebrospinal fluid and plasma vasopressin were measured in patients with cerebral disorders associated with varying levels of elevated intracranial pressure. The mean cerebrospinal fluid vasopressin concentration was significantly increased in patients with pseudotumor cerebri (2.0 +/- 0.2 [SEM] pg/ml), intracranial ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150506
更新日期:1984-05-01 00:00:00
abstract::A patient with longstanding Mollaret's meningitis had an increased number of circulating natural killer cells during an acute attack, as evidenced by 73% large granular lymphocytes and 80% Leu-11a-positive peripheral mononuclear cells. Numbers of large granular lymphocytes and Leu-11a-positive cells returned to normal...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200315
更新日期:1986-09-01 00:00:00
abstract::Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410440604
更新日期:1998-12-01 00:00:00
abstract::Deposition of fibrillar amyloid beta protein (A beta) is increased in brains of patients with Alzheimer's disease. Concentrations of A beta were measured in cerebrospinal fluid with an enzyme-linked immunosorbent assay in 10 neurological patients free from neurodegenerative disease, 28 patients with Parkinson's diseas...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370221
更新日期:1995-02-01 00:00:00
abstract::A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140611
更新日期:1983-12-01 00:00:00
abstract::An increasing spectrum of diseases has been shown to be associated with the human T-cell lymphotropic virus type I (HTLV-I), most notably a chronic, progressive myelopathy termed HTLV-I--associated myelopathy/tropical spastic paraparesis and adult T-cell leukemia. HTLV-II is a close relative of HTLV-I and is structura...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330411
更新日期:1993-04-01 00:00:00
abstract::Two women suffered from a similar, slowly progressive illness characterized by upper and lower motor neuron involvement, sensory disturbances, and neurogenic bladder. Radiographic examinations showed cerebral atrophy and, in one, changes on computerized tomography suggesting leukodystrophy. Sural nerve biopsies reveal...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410130411
更新日期:1983-04-01 00:00:00
abstract::WAIS performance was compared in 35 pairs of left- and right-handed subjects who had been individually matched for lateralization, cause of brain damage, age, education, and gender. WAIS results were similar in the two groups as well as in two subgroups of subjects with unilateral brain damage. No differences between ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410020514
更新日期:1977-11-01 00:00:00
abstract:OBJECTIVE:The Ts65Dn (Ts) mouse model of Down syndrome (DS) is exquisitely sensitive to an infantile spasms phenotype induced by γ-aminobutyric acidB receptor (GABAB R) agonists. The Ts mouse contains the core genomic triplication of the DS critical region, which includes 3 copies of the Kcnj6 gene that encodes the GAB...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24749
更新日期:2016-10-01 00:00:00
abstract::We report the use of a new stable isotope-labeled form of levodopa (LD) to examine in vivo central LD metabolism in Parkinson's disease (PD). Eight patients representing a wide spectrum of disease severity were administered 50 mg of carbidopa orally followed in 1 hour by an intravenous bolus of 150 mg of stable isotop...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420305
更新日期:1997-09-01 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::Although most therapeutic efforts and experimental stroke models focus on the concept of complete occlusion of the middle cerebral artery as a result of embolism from the carotid artery or cardiac chamber, relatively little is known about the stroke mechanism of intrinsic middle cerebral artery stenosis. Differences i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10250
更新日期:2002-07-01 00:00:00