Abstract:
:An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age she has severe developmental delay, a strikingly abnormal MRI. Apolipoprotein C-II, the lipoprotein on chylomicrons responsible for the activation of lipoprotein lipase, was not detectable in blood. Analysis of the APO C-II gene revealed a novel homozygous point mutation, 1118C-->A. Subsequently, another sibling has been born with the same homozygous mutation and similar biochemistry but, perhaps because of early treatment, a normal neurological outcome.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Wilson CJ,Priore Oliva C,Maggi F,Catapano AL,Calandra Sdoi
10.1002/ana.10598keywords:
subject
Has Abstractpub_date
2003-06-01 00:00:00pages
807-10issue
6eissn
0364-5134issn
1531-8249journal_volume
53pub_type
杂志文章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::Hippocampal depth electrodes are often used to localize seizure onset in patients who may have temporal lobe epilepsy (TLE). A number of features of the spontaneous seizures and of their ictal onset patterns can be analyzed from these recordings. We compared a number of the typical electroencephalographic (EEG) change...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410380513
更新日期:1995-11-01 00:00:00
abstract:OBJECTIVE:Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories. Selenoprotein N (SelN) is the only selenoprotein involved in a genetic disease; its function being unknown, no treatment is av...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21644
更新日期:2009-06-01 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::Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Ke...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260603
更新日期:1989-12-01 00:00:00
abstract:OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24151
更新日期:2014-05-01 00:00:00
abstract:OBJECTIVE:Both animal and human data suggest that noradrenergic stimulation may enhance motor performance after brain damage. We conducted a placebo-controlled, double-blind and crossover design study to investigate the effects of noradrenergic stimulation on the cortical motor system in hemiparetic stroke patients. M...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22237
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVE:Determine the probability of attaining complete remission in children with nonsyndromic epilepsy (NSE) over the course of ≥10 years from initial diagnosis; identify early predictors of complete remission; and assess the risk of relapse after achieving complete remission. METHODS:In a prospective community-ba...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22461
更新日期:2011-10-01 00:00:00
abstract::Sera from 6 of 12 patients with paraneoplastic cerebellar degeneration (PCD) contained anti-Purkinje cell antibodies, as determined by indirect immunofluorescence on frozen sections of normal human cerebellum. Samples of cerebrospinal fluid from 2 of the patients with serum antibodies were tested, and both specimens c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180513
更新日期:1985-11-01 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
abstract::Postmortem frontal, temporal, and occipital regions of the brain from adult patients who had a diagnosis of Tourette's syndrome were analyzed for neurochemical alterations. In 3 of 4 TS-affected brains, the concentration of adenosine 3',5'-monophosphate (cyclic AMP) was reduced in all brain regions evaluated. This dim...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410270415
更新日期:1990-04-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20548
更新日期:2005-08-01 00:00:00
abstract::The incidence of periventricular-intraventricular hemorrhage (PV-IVH) in a group of 460 preterm infants with birth weight less than 2,250 gm, studied by cranial ultrasonography, was 39%. Sixty-four (36%) of the infants with periventricular-intraventricular hemorrhage had, in addition, periventricular intraparenchymal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150315
更新日期:1984-03-01 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 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::The mechanism whereby dystrophin deficiency leads to excessive fibrosis and muscle degeneration is not known. The absence of dystrophin in skeletal muscle is associated with reduced plasma membrane stability as evidenced by elevated serum levels of the cytoplasmic enzyme creatine kinase. Basic fibroblast growth factor...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350320
更新日期:1994-03-01 00:00:00
abstract::To identify those factors associated with cerebral hemorrhage among brains with cerebral amyloid angiopathy (CAA), we undertook a comparative postmortem histopathological study of amyloid-containing vessels in the brains of patients with and without hemorrhage. Those without hemorrhage were represented by the followin...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300503
更新日期:1991-11-01 00:00:00
abstract::Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10451
更新日期:2003-03-01 00:00:00
abstract::A child with neurofibromatosis exhibited gigantism and acromegaly in association with a hypothalamic mass lesion. Bromocriptine, 5 mg daily, reduced somatic growth rate and restored biochemical homeostasis but had no effect on tumor growth. Radiation therapy arrested tumor enlargement and stabilized deteriorating visu...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410150318
更新日期:1984-03-01 00:00:00
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 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-11-01 00:00:00
abstract::Patients with multiple sclerosis (MS) frequently have selective depletion of the CD45R+CD4+ T-cell subset during active phases of disease. To study the relationship between changes in this subset and the onset of objective clinical exacerbations of disease, a longitudinal study was undertaken. Two CD4+ T-cell subsets ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240204
更新日期:1988-08-01 00:00:00
abstract::Increased glutamatergic transmission in the basal ganglia is implicated in the pathophysiology of Parkinson's disease. However, the mechanisms by which activation of glutamate receptors produce parkinsonism are unknown. Therefore, we examined whether the glutamate agonists N-methyl-D-aspartate (NMDA), alpha-amino-3-hy...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340413
更新日期:1993-10-01 00:00:00
abstract::PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were nove...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20251
更新日期:2004-09-01 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::Neurosurgical procedures such as the dorsal root entry zone operation, ganglionectomy, and spinal-cord stimulation have been offered to patients with intractable post-herpetic neuralgia (PHN). Poor efficacy or high morbidity have limited the overall usefulness of these procedures. We recently conducted a preliminary o...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350716
更新日期:1994-01-01 00:00:00
abstract::Progressive cerebral deposition of amyloid-beta (Abeta) peptide, an early and essential feature of Alzheimer's disease (AD), is accompanied by an inflammatory reaction marked by microgliosis, astrocytosis, and the release of proinflammatory cytokines. Mucosal administration of disease-implicated proteins can induce an...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-10-01 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::Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed lin...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410340519
更新日期:1993-11-01 00:00:00
abstract::A 53-year-old man presented with a lumbosacral polyradiculoneuropathy and developed fluctuating encephalopathy suggestive of multifocal small vessel disease. Postmortem examination demonstrated multifocal vascular occlusion by undifferentiated cells confined to the intravascular space. Extravascular spread was found o...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120515
更新日期:1982-11-01 00:00:00
abstract::Malignant tumors are known to have a "remote" or nonmetastatic effect on the central and peripheral nervous systems. Eight patients were seen with proximal muscle weakness in association with bronchogenic carcinoma (5), carcinoma of breast (2), and leukemia (1). Electromyography demonstrated small polyphasic motor uni...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040314
更新日期:1978-09-01 00:00:00