Abstract:
:Gene therapy methods have continued to develop rapidly, and many initial limitations that hampered clinical application have been overcome. Thus serious consideration of clinical application of gene therapy is warranted for selected disorders in which the pathogenesis is well defined. Parkinson's disease has been the most extensively studied target of gene therapy for central nervous system disorders and shares many features with pediatric neurotransmitter diseases. Neurotransmitter replacement therapy using catecholamine-synthesizing genes and delivery of neurotrophic factors such as glial cell line-derived neurotrophic factors has been successful in animal models of Parkinson's disease. Application of gene therapy for pediatric neurotransmitter diseases will require delineating the optimal set of genes to correct the consequences of the deficiencies. The optimal anatomical targets and proper timing of the gene replacement must be understood. Safety of gene therapy vehicles and the ability to regulate gene expression will be essential for eventual clinical application.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Kang UJ,Nakamura Kdoi
10.1002/ana.10654keywords:
subject
Has Abstractpub_date
2003-01-01 00:00:00pages
S103-9eissn
0364-5134issn
1531-8249journal_volume
54 Suppl 6pub_type
杂志文章,评审abstract::Chronic measles virus infection of the brain causes subacute sclerosing panencephalitis (SSPE), a progressive, relentless fatal disorder. We report a 52-year-old male who developed focal, chronic persistent measles virus infection of the brain following interferon and ribavirin therapy for hepatitis C, and who respond...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24183
更新日期:2014-06-01 00:00:00
abstract::Temporal lobe seizures are frequently associated with a characteristic pattern of hippocampal pathology (hippocampal sclerosis), as well as pathology in other temporal lobe structures. Despite more than a century of study, the relationship between pathology and epileptogenesis remains unclear. Endfolium sclerosis, whi...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410350604
更新日期:1994-06-01 00:00:00
abstract:OBJECTIVE:Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS:Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24930
更新日期:2017-05-01 00:00:00
abstract::Identifying asymptomatic older individuals at elevated risk for developing Alzheimer disease (AD) is of clinical importance. Among 1,081 asymptomatic older adults, a recently validated polygenic hazard score (PHS) significantly predicted time to AD dementia and steeper longitudinal cognitive decline, even after contro...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25029
更新日期:2017-09-01 00:00:00
abstract::Caloric vestibular testing induced nystagmus in a patient with an isoelectric electroencephalogram after cardiopulmonary arrest. This has been demonstrated previously in patients in a chronic persistent vegetative state with intact brainstem reflexes, but never in a patient with an isoelectric electroencephalogram. An...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210118
更新日期:1987-01-01 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::Benzodiazepines can regulate neoplastic growth and immune response through specific peripheral benzodiazepine receptors. We investigated the presence of peripheral and classic central benzodiazepine receptors as well as diazepam-binding inhibitor, an endogenous ligand of both types of receptors, in different human cer...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260411
更新日期:1989-10-01 00:00:00
abstract::A 51-year-old man with non-HLA-DR2 histocompatibility developed classic signs and symptoms of the narcoleptic tetrad soon after recovering from an episode of cardiopulmonary insufficiency, which occurred during induction of surgical anesthesia. Symptoms included excessive daytime sleepiness, hypnagogic hallucinations,...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190516
更新日期:1986-05-01 00:00:00
abstract::Most neurodegenerative disorders are thought to result primarily from the accumulation of misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of diseases, however, noncoding regions of RNAs assume a primary toxic gain-of-function, leading to degeneration in many tissues, including the...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21948
更新日期:2010-03-01 00:00:00
abstract::The first electrophysiological study of the human lateral geniculate nucleus (LGN), optic radiation, striate, and extrastriate visual areas is presented in the context of presurgical evaluation of three epileptic patients (Patients 1, 2, and 3). Visual-evoked potentials to pattern reversal and face presentation were r...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10403
更新日期:2003-01-01 00:00:00
abstract::The effect of focal ischemia on tissue pH was studied at various times up to 6 hours after permanent middle cerebral artery occlusion in rats. Tissue pH was imaged by using umbelliferone fluorescence and correlated with cerebral blood flow, ATP content, and recordings of the steady potential. Circumscribed foci of all...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract:OBJECTIVE:To investigate whether phospholipase A2 (PLA2) plays a role in the pathogenesis of spinal cord injury (SCI). METHODS:Biochemical, Western blot, histological, immunohistochemical, electron microscopic, electrophysiological, and behavior assessments were performed to investigate (1) SCI-induced PLA2 activity, ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20798
更新日期:2006-04-01 00:00:00
abstract::There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffini...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-05-01 00:00:00
abstract::We studied neuronal activity and its relation to the accumulation of neurofibrillary tangles in Alzheimer's disease (AD) neurons by in situ hybridization to cytochrome oxidase subunit III messenger RNA, a marker of mitochondrial energy metabolism. In AD midtemporal cortex, levels of cytochrome oxidase subunit III mess...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400310
更新日期:1996-09-01 00:00:00
abstract::The consequences of axonal injuries in the adult nervous system depend on the location of the axons: complete anatomical and functional repair can occur in the peripheral but not the central nervous system. A quantitative electron microscopical comparison of the reactions to axonal injuries in a peripheral site (the s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030203
更新日期:1978-02-01 00:00:00
abstract:OBJECTIVE:Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK w...
journal_title:Annals of neurology
pub_type: 杂志文章,多中心研究
doi:10.1002/ana.23528
更新日期:2012-03-01 00:00:00
abstract:OBJECTIVE:The study was undertaken to determine whether normobaric hypoxia causes elevated brain volume and intracranial pressure in individuals with symptoms consistent with acute mountain sickness (AMS). METHODS:Thirteen males age = (26 (sd 6)) years were exposed to normobaric hypoxia (12% O2 ) and normoxia (21% O2 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24171
更新日期:2014-06-01 00:00:00
abstract:OBJECTIVE:We utilized the amyloid imaging ligand Pittsburgh Compound B (PiB) to determine the presence of Alzheimer's disease (AD) pathology in different mild cognitive impairment (MCI) subtypes and to relate increased PiB binding to other markers of early AD and longitudinal outcome. METHODS:Twenty-six patients with ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21598
更新日期:2009-05-01 00:00:00
abstract::Central motor conduction times for the adductor pollicis muscle, the twitch force of that muscle to scalp magnetic motor cortex stimulation, and the maximum force of phasic voluntary contraction of the same muscle were measured in 15 patients with multiple sclerosis. Two tests of manual dexterity of the same hand also...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290104
更新日期:1991-01-01 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::To investigate the clinical features of transient cerebral hypoxia, syncope was induced in 56 of 59 healthy volunteers through a sequence of hyperventilation, orthostasis, and Valsalva maneuver. All events were monitored on video by two cameras. Complete syncope with falling and loss of consciousness was observed in 4...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410360217
更新日期:1994-08-01 00:00:00
abstract::Neurofilaments, assembled from NF-L (68 kd), NF-M (95 kd), and NF-H (115 kd), are the most abundant structural components in large myelinated axons, particularly those of motor neurons. Aberrant neurofilament accumulation in cell bodies and axons of motor neurons is a prominent pathological feature of several motor ne...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410400410
更新日期:1996-10-01 00:00:00
abstract::Astrocytic necrosis is a prominent pathological feature of neuromyelitis optica (NMO) lesions and is clinically relevant. We report 5 NMO-related cases, all with longitudinally extensive lesions in the upper cervical cord, who underwent cervical cord (1) H-magnetic resonance spectroscopy. Lower myo-inositol/creatine v...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.23909
更新日期:2013-08-01 00:00:00
abstract::A 51-year-old diabetic woman developed bilateral rhinoorbitocerebral phycomycosis. Successful treatment was accomplished by correction of the ketoacidosis, surgical debridement, and amphotericin B therapy. Rhinoorbitocerebral phycomycosis is a fulminant and frequently fatal disease most often seen in debilitated hosts...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410060210
更新日期:1979-08-01 00:00:00
abstract::Pain and other phantom limb (PL) sensations have been proposed to be generated in the brain and to be reflected in activation of specific neural circuits. To test this hypothesis, hypnosis was used as a cognitive tool to alternate between the sensation of PL movement and pain in 8 amputees. Brain activity was measured...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-12-01 00:00:00
abstract:OBJECTIVE:Degeneration of chronically demyelinated axons is a major cause of irreversible neurological decline in the human central nervous system disease, multiple sclerosis (MS). Although the molecular mechanisms responsible for this axonal degeneration remain to be elucidated, dysfunction of axonal Na+/K+ ATPase is ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21381
更新日期:2008-04-01 00:00:00
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 bu...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410290119
更新日期:1991-01-01 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::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:Alzheimer disease (AD) is the most common form of dementia and is responsible for a huge and growing health care burden in the developed and developing world. The polygenic risk score (PRS) approach has shown 75 to 84% prediction accuracy of identifying individuals with AD risk. METHODS:In this study, we tes...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25530
更新日期:2019-09-01 00:00:00