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 pyrophosphate transporter was identified. An SLC25A19 mutation was previously reported in Amish congenital lethal microcephaly but the present patients' phenotype is markedly different, with normal head circumference, normal early childhood development, age-appropriate cognitive skills, and normal urinary organic acid profile. Determination of the SLC25A19 sequence should be considered in patients with bilateral striatal necrosis and progressive polyneuropathy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Spiegel R,Shaag A,Edvardson S,Mandel H,Stepensky P,Shalev SA,Horovitz Y,Pines O,Elpeleg Odoi
10.1002/ana.21752subject
Has Abstractpub_date
2009-09-01 00:00:00pages
419-24issue
3eissn
0364-5134issn
1531-8249journal_volume
66pub_type
杂志文章abstract:OBJECTIVE:Neonatal white matter injury (NWMI) is a lesion found in preterm infants that can lead to cerebral palsy. Although antagonists of bone morphogenetic protein (BMP) signaling, such as Noggin, promote oligodendrocyte precursor cell (OPC) production after hypoxic-ischemic (HI) injury, the downstream functional ta...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24907
更新日期:2017-04-01 00:00:00
abstract:OBJECTIVE:To evaluate the outcomes 1 year and longer following stereotactic laser amygdalohippocampotomy for mesial temporal lobe epilepsy in a large series of patients treated over a 5-year period since introduction of this novel technique. METHODS:Surgical outcomes of a consecutive series of 58 patients with mesial ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25180
更新日期:2018-03-01 00:00:00
abstract::A 26-year-old woman was in spontaneous clinical remission from myasthenia gravis (MG) for six months, yet gave birth to a full-term infant with typical neonatal MG. It is believed that transplacental transfer of anti-acetylcholine (ACh) receptor antibodies is responsible for neonatal MG; therefore, neonatal MG represe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060119
更新日期:1979-07-01 00:00:00
abstract::We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1258
更新日期:2001-11-01 00:00:00
abstract:OBJECTIVE:The Veterans Administration Cooperative Studies Program #468, a multicenter study that randomized Parkinson's disease (PD) patients to either subthalamic nucleus (STN) or globus pallidus internus (GPi) deep brain stimulation (DBS), found that stimulation at either target provided similar overall motoric benef...
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.24374
更新日期:2015-04-01 00:00:00
abstract::A 71-year-old woman presented with a short history of episodes of severe left-sided orbital and temporal pain in paroxysms lasting 60 to 90 seconds, and accompanied by ipsilateral lacrimation of the eye, rhinorrhea, and conjunctival injection. Results of clinical examination and structural imaging were normal and a cl...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199911)46:5<791::aid-ana18>3.0.c
更新日期:1999-11-01 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:OBJECTIVE:Deletions of CACNA1A, encoding the α1 subunit of CaV 2.1 channels, cause epilepsy with ataxia in humans. Whereas the deletion of Cacna1a in γ-aminobutyric acidergic (GABAergic) interneurons (INs) derived from the medial ganglionic eminence (MGE) impairs cortical inhibition and causes generalized seizures in N...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25301
更新日期:2018-09-01 00:00:00
abstract::Clinical seizure manifestations, physical examination, radiological studies, neuropsychological tests, and scalp and depth electroencephalographic (EEG) studies were done to localize seizure foci in 32 patients, 23 of whom have undergone surgery with more than one year of follow-up. Of 16 patients with unlocalized sca...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120306
更新日期:1982-09-01 00:00:00
abstract:OBJECTIVE:Huntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder, providing an ideal model for understanding brain changes occurring in the years prior to disease onset. Diffusion tensor imaging (DTI) studies show widespread white matter disorganization in the early premanifest stages (pre...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.25309
更新日期:2018-10-01 00:00:00
abstract::Positron emission tomography (PET) of brain glucose utilization is highly sensitive in detecting focal cortical abnormalities in patients with infantile spasms even when the computed tomographic (CT) and magnetic resonance imaging (MRI) scans are normal. Of 110 infants with spasms evaluated for potential surgical inte...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390514
更新日期:1996-05-01 00:00:00
abstract::This study reports a case of type VII mucopolysaccharidosis (beta-glucuronidase deficiency) presenting as lethal hydrops fetalis. Skin fibroblast cultures established postmortem revealed deficient beta-glucuronidase activity. Mucopolysaccharides were stored in various cells of the brain, heart, kidney, liver, and sple...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140415
更新日期:1983-10-01 00:00:00
abstract::A 56-year-old man was seen with subacute cerebellar degeneration and was found to have oat cell carcinoma of the lung. Antibodies to cerebellar Purkinje cells and granule cells were detected in both serum and cerebrospinal fluid (CSF), and intrathecal antibody synthesis was suggested by serum CSF antibody ratios, CSF ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190117
更新日期:1986-01-01 00:00:00
abstract::Homocarnosine, a dipeptide of gamma-aminobutyric acid (GABA) and histidine, is thought to be an inhibitory neuromodulator synthesized in subclasses of GABAergic neurons. Homocarnosine is present in human brain in greater amounts (0.4-1.0 micromol/g) than in other animals. The antiepileptic drug vigabatrin increases hu...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410440614
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:The aim of the study was to assess the distribution, frequency, and specific location of mutant huntingtin protein (mHTT) aggregates-the pathological hallmark of Huntington disease (HD)-within the various compartments of the spinal cord and their potential impact on the local vasculature and blood-spinal cord...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25107
更新日期:2017-12-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a lethal degenerative disorder of motoneurons, which may occur concurrently with frontotemporal dementia. Genetic analyses of the ∼10% of ALS cases that are dominantly inherited provide insight into ALS pathobiology. Two broad themes are evident. One, prompted by investigations o...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.24012
更新日期:2013-09-01 00:00:00
abstract::Two principal features of Alzheimer's disease (AD) are (1) the occurrence of neurofibrillary tangles (NFTs) and senile plaques, and (2) the loss of cortical cholinergic activity because of dysfunction of neurons in the basal forebrain cholinergic system. The relationship of these two abnormalities is an unresolved iss...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200407
更新日期:1986-10-01 00:00:00
abstract:OBJECTIVE:The aim was to demonstrate that antibodies from patients with anti-N-methyl-d-aspartate receptor (NMDAR) encephalitis alter the levels of dopamine 1 receptor (D1R) and dopamine 2 receptor (D2R) and cause psychotic-like features in mice. METHODS:Cultured rat hippocampal neurons were treated with cerebrospinal...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25829
更新日期:2020-09-01 00:00:00
abstract::Copper toxicity contributes to neuronal death in Wilson's disease and has been speculatively linked to the pathogenesis of Alzheimer's and prion diseases. We examined copper-induced neuronal death with the goal of developing neuroprotective strategies. Copper catalyzed an increase in hydroxyl radical generation in sol...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10276
更新日期:2002-08-01 00:00:00
abstract::The subtype IV of Machado-Joseph disease (MJD), characterized by parkinsonism variably combined with ataxia, distal atrophy, and sensory loss, has been all but ignored in recent reports of MJD, including those describing the molecular biologic substrate of the disease. We have demonstrated expansion of the CAG trinucl...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380422
更新日期:1995-10-01 00:00:00
abstract:OBJECTIVE:We aimed to determine the risk of short- and long-term stroke, as well as accidental injury, in patients discharged from an emergency department who were given a diagnosis of a peripheral vestibular disorder. METHODS:In this population-based, retrospective, cohort study, we identified all adult patients who ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24521
更新日期:2016-01-01 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::Seizures in temporal lobe epilepsy can be classified as hypersynchronous and low-voltage fast according to their onset patterns. Experimental evidence suggests that low-voltage fast-onset seizures mainly result from the synchronous activity of γ-aminobutyric acid-releasing cells. In this study, we tested this hypothes...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24342
更新日期:2015-03-01 00:00:00
abstract::Recent studies have indicated a normal gene dose for the amyloid precursor protein (APP) in Alzheimer's disease (AD). These findings leave open the possibility that elevated levels of messenger RNA (mRNA) for this protein may contribute to the pathogenesis of AD. Using Northern analysis, we compared the levels of mRNA...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410250404
更新日期:1989-04-01 00:00:00
abstract::This paper attempts to place into perspective the present state of clinical investigation with PET in neurology. To this end we briefly review the work of the neurology group of the MRC Cyclotron Unit at Hammersmith Hospital, by reference to studies performed in normal subjects and in patients with cerebrovascular dis...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150722
更新日期:1984-01-01 00:00:00
abstract::More than a decade ago myasthenic symptoms were observed in rabbits immunized with acetylcholine receptor (AChR) [119] and AChR deficiency was found at the neuromuscular junction in human myasthenia gravis (MG) [36]. By 1977 the autoimmune character of MG and the pathogenic role of AChR antibodies had been established...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410160502
更新日期:1984-11-01 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:OBJECTIVE:Intracellular amyloid β-protein (Aβ) contributes to neurodegeneration in Alzheimer disease (AD). Apomorphine (APO) is a dopamine receptor agonist for Parkinson disease and also protects against oxidative stress. Efficacy of APO for an AD mouse model and effects of APO on cell cultures are studied. METHODS:Th...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22319
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVE:The risk for symptomatic intracerebral hemorrhage (sICH) associated with thrombolytic treatment has not been evaluated in large studies using diffusion-weighted imaging (DWI). Here, we investigated the relation between pretreatment DWI lesion size and the risk for sICH after thrombolysis. METHODS:In this ret...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.21222
更新日期:2008-01-01 00:00:00
abstract::To explore the concept that dystonia may result from dysfunction of the sensory system, 14 patients with focal hand dystonia were tested during two somatosensory discrimination tasks. Compared with controls, patients had a higher threshold in a task involving discrimination of two electric stimuli closely related temp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-03-01 00:00:00