Abstract:
:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to 10.0% of myocyte nuclei contained discreet PABP2 immunoreactive intranuclear inclusions, providing the first direct evidence of the relation between the proposed gene for OPMD and the pathology of OPMD.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Becher MW,Kotzuk JA,Davis LE,Bear DGkeywords:
subject
Has Abstractpub_date
2000-11-01 00:00:00pages
812-5issue
5eissn
0364-5134issn
1531-8249journal_volume
48pub_type
杂志文章abstract::Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondrial thiamine pyrophosph...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21752
更新日期:2009-09-01 00:00:00
abstract::A 30-year-old male drug abuser developed ophthalmoplegia, bulbar paralysis, and limb weakness responsive to edrophonium. However, potentiation of a low-amplitude evoked muscle action potential was produced with repetitive nerve stimulation at 10 Hz, and the clinical and electrophysiological data suggested the diagnosi...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160314
更新日期:1984-09-01 00:00:00
abstract:OBJECTIVE:Patients with temporal lobe epilepsy often display cognitive comorbidity with recurrent seizures. However, the cellular mechanisms underlying the impairment of neuronal information processing remain poorly understood in temporal lobe epilepsy. Within the hippocampal formation neuronal networks undergo major r...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24348
更新日期:2015-04-01 00:00:00
abstract::Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonpr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25048
更新日期:2017-10-01 00:00:00
abstract::We report on 3 anti-Hu-positive patients who presented with clinical and electroencephalographic (EEG) features of epilepsia partialis continua (EPC). Two of the patients had an associated small cell carcinoma. Magnetic resonance imaging (MRI) disclosed a hyperintense nonenhancing focal lesion in T2-weighted images in...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199902)45:2<255::aid-ana18>3.0.c
更新日期:1999-02-01 00:00:00
abstract::Emotional blunting can be found after cerebellar lesions. However, the mechanism of such a modification is not clear. We present a patient with emotional flattening and increased risk taking after left cerebellar infarct who had an impaired autonomic reactivity to negative as compared with positive reinforcement. This...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10549
更新日期:2003-05-01 00:00:00
abstract:OBJECTIVE:T2-weighted magnetic resonance imaging is a sensitive tool for monitoring progression of multiple sclerosis, but it does not provide information on the severity of the underlying tissue damage. Measurement of T1 hypointensities and magnetization transfer ratio (MTR) can potentially distinguish lesions with mo...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21113
更新日期:2007-09-01 00:00:00
abstract::Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380115
更新日期:1995-07-01 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::In CAG repeat diseases, affected neurons possess many cytoplasmic granules immunopositive for expanded polyglutamine stretches. Electron microscopic immunohistochemistry showed that the granules corresponded to lysosomes of primitive type. The results suggest that, in addition to the ubiquitin/proteasome pathway, muta...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10328
更新日期:2002-10-01 00:00:00
abstract::We measured brain acetylcholinesterase activity in 30 patients with Alzheimer's disease (AD) and 14 age-matched controls by positron emission tomography (PET) and using a carbon 11-labeled acetylcholine analogue. Seven AD patients had repeat PET scans. The k3 values were calculated as an index of acetylcholinesterase ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-08-01 00:00:00
abstract:OBJECTIVE:We tested the premise that cholinesterase inhibitor therapy should target butyrylcholinesterase (BuChE) in Alzheimer's disease (AD), not acetylcholinesterase (AChE) alone, because both enzymes hydrolyze acetylcholine, and BuChE is increased in AD cerebral cortex. METHODS:To examine this issue in vivo, we qua...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20672
更新日期:2006-01-01 00:00:00
abstract::Multiple sclerosis (MS) is a demyelinating disease of the central nervous system (CNS) afflicting approximately 250,000 individuals in the United States. This inflammatory disease has variable clinical manifestations, ranging from a relapsing-remitting course to a chronic progressive disease. Approximately one third o...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410370710
更新日期:1995-05-01 00:00:00
abstract::Auditory evoked magnetic fields to noise/square-wave sequences, presented once every 2.2 seconds, were recorded in 8 patients who had ischemic lesions in the auditory cortex or in its vicinity. In 2 patients with large temporoparietal lesions, the magnetic 100-msec deflection (N100m) was absent over the damaged side. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300114
更新日期:1991-07-01 00:00:00
abstract::Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We pres...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260412
更新日期:1989-10-01 00:00:00
abstract::Fresh brain weight, gestational age, body weight, sex, and race were collected from autopsy records of 782 newborns over a 10-year period. The brain weight of the mature newborn does not differ between males and females or between white and black infants. For the premature, however, brain weight is heavier in white ma...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410100308
更新日期:1981-09-01 00:00:00
abstract:OBJECTIVE:Oral anticoagulation treatment (OAT) resumption is a therapeutic dilemma in intracerebral hemorrhage (ICH) care, particularly for lobar hemorrhages related to amyloid angiopathy. We sought to determine whether OAT resumption after ICH is associated with long-term outcome, accounting for ICH location (ie, loba...
journal_title:Annals of neurology
pub_type: 杂志文章,meta分析,多中心研究
doi:10.1002/ana.25079
更新日期:2017-11-01 00:00:00
abstract:OBJECTIVE:To evaluate the ability of mesenchymal stem cells (MSCs), a subset of adult stem cells from bone marrow, to cure experimental autoimmune encephalomyelitis. METHODS:The outcome of the injection of MSCs, in mice immunized with the peptide 139-151 of the proteolipid protein (PLP), was studied analyzing clinical...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21076
更新日期:2007-03-01 00:00:00
abstract::We report on a 12-year-old girl with a severe subacute to chronic bifrontal leukoencephalopathy. By clinical, biochemical, radiological, and neuropathological criteria, a diagnosis of inflammatory myelinoclastic diffuse sclerosis was reached. This is the third fully documented case. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230422
更新日期:1988-04-01 00:00:00
abstract:OBJECTIVE:Faster time from onset to recanalization (OTR) in acute ischemic stroke using endovascular therapy (ET) has been associated with better outcome. However, previous studies were based on less-effective first-generation devices, and analyzed only dichotomized disability outcomes, which may underestimate the full...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1002/ana.24474
更新日期:2015-10-01 00:00:00
abstract::We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240402
更新日期:1988-10-01 00:00:00
abstract::An in vitro preparation has been developed in which epileptogenesis in mammalian central nervous system tissue may be studied. Addition of sodium penicillin to the medium bathing slices of guinea pig hippocampus induced epileptiform activity similar to that seen in hippocampal penicillin foci in vivo. Epileptiform eve...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410010510
更新日期:1977-05-01 00:00:00
abstract:OBJECTIVE:Gut microbiome alterations in Parkinson disease (PD) have been reported repeatedly, but their functional relevance remains unclear. Fecal metabolomics, which provide a functional readout of microbial activity, have scarcely been investigated. We investigated fecal microbiome and metabolome alterations in PD, ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25982
更新日期:2020-12-03 00:00:00
abstract::Systems for automatic assessment of cutaneous touch-pressure, vibratory, and thermal sensation have been developed. These systems use stimuli which are quantified and reproducible, a two-alternative forced-choice technique, and programmed steps to test, score, and report. If normal responses from series of healthy per...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040605
更新日期:1978-12-01 00:00:00
abstract::The prevalence and titer of serum antibodies to several Epstein-Barr virus (EBV) antigens were compared among patients with multiple sclerosis, healthy siblings of multiple sclerosis patients, patients with other neurological diseases, and healthy non-blood-related subjects. Serum-cerebrospinal fluid (serum-CSF) pairs...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410170412
更新日期:1985-04-01 00:00:00
abstract::Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is defici...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-02-01 00:00:00
abstract::Concanavalin A (Con A)-activated suppressor cell activity was determined in multiple sclerosis (MS) patients who had been assigned to one of three subgroups, those with active disease, those recovering from a flare-up, and those with stable disease. The level of suppression induced by the Con A-activated suppressor ce...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410050406
更新日期:1979-04-01 00:00:00
abstract::Unilateral lesions of the occipital visual areas performed on postnatal day 5 (P5) in the ferret are not compensated by the appearance, in the lesioned hemisphere, of visual responses at ectopic locations. Instead, when parts of the visual areas are spared, they show abnormal retinotopic organizations; furthermore, ca...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10591
更新日期:2003-07-01 00:00:00
abstract:OBJECTIVE:Genetic variants of the cytoplasmic FMR1-interacting protein 2 (CYFIP2) encoding an actin-regulatory protein are associated with brain disorders, including intellectual disability and epilepsy. However, specific in vivo neuronal defects and potential treatments for CYFIP2-associated brain disorders remain lar...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25827
更新日期:2020-09-01 00:00:00
abstract::We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199902)45:2<182::aid-ana8>3.0.co
更新日期:1999-02-01 00:00:00