Abstract:
:Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutarate, and branched chain keto-acids. Undiagnosed and untreated thiamine deficiencies are often fatal or lead to severe sequelae. Herein, we describe the clinical and genetic characterization of 79 patients with inherited thiamine defects causing encephalopathy in childhood, identifying outcome predictors in patients with pathogenic SLC19A3 variants, the most common genetic etiology. We propose diagnostic criteria that will aid clinicians to establish a faster and accurate diagnosis so that early vitamin supplementation is considered. Ann Neurol 2017;82:317-330.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Ortigoza-Escobar JD,Alfadhel M,Molero-Luis M,Darin N,Spiegel R,de Coo IF,Gerards M,Taylor RW,Artuch R,Nashabat M,Rodríguez-Pombo P,Tabarki B,Pérez-Dueñas B,Thiamine Deficiency Study Group.doi
10.1002/ana.24998subject
Has Abstractpub_date
2017-09-01 00:00:00pages
317-330issue
3eissn
0364-5134issn
1531-8249journal_volume
82pub_type
杂志文章abstract::Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain norm...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20168
更新日期:2004-08-01 00:00:00
abstract::A 30-year-old man presented with decreased vision in the right eye of three weeks' duration. Examination indicated a chiasmal syndrome and evidence of subarachnoid hemorrhage. CAT scan showed a large suprasellar mass. Surgical intervention confirmed the presence of a globular lesion filled with blood clots involving m...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410040515
更新日期:1978-11-01 00:00:00
abstract::Infantile spasms are generalized seizures specific to early infancy, and are believed to result from complex cortical-subcortical interactions during a critical period of development. We used positron emission tomography (PET) to determine local cerebral metabolic rates for glucose (1CMRG1c) in 44 infants with spasms,...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310212
更新日期:1992-02-01 00:00:00
abstract::Five monkeys trained to perform with the extremity contralateral to a stimulus had unilateral neglect induced by frontal and reticular formation lesions. Postoperatively the performance of the animals was abnormal only on ipsilateral stimulation, which suggests that the mechanism underlying neglect in these subjects i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030609
更新日期:1978-06-01 00:00:00
abstract:OBJECTIVE:Cerebellar dysfunction in multiple sclerosis (MS) contributes significantly to disability, is relatively refractory to symptomatic therapy, and often progresses despite treatment with disease-modifying agents. We previously observed that sodium channel Nav1.8, whose expression is normally restricted to the pe...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22665
更新日期:2012-02-01 00:00:00
abstract::An 18-year-old man with acne fulminans developed an acute inflammatory myositis, an association not previously reported. The condition resolved with treatment using systemic corticosteroids. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410080110
更新日期:1980-07-01 00:00:00
abstract::Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian form...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25152
更新日期:2018-02-01 00:00:00
abstract::We performed magnetic resonance imaging and magnetic resonance spectroscopic imaging on 28 patients with multiple sclerosis stratified for disability and clinical course (relapsing with at least partial remissions or secondary progressive disease). Lesions were segmented on the conventional proton density and T2-weigh...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410410314
更新日期:1997-03-01 00:00:00
abstract::In healthy individuals, motor training elicits cortical plasticity that encodes the kinematic details of the practiced movements and is thought to underlie recovery of function after stroke. The influence of age on this form of plasticity is incompletely understood. We studied 55 healthy subjects and identified a subs...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10529
更新日期:2003-04-01 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:OBJECTIVE:Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS:We reviewed 124 patients stra...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24485
更新日期:2015-10-01 00:00:00
abstract::The pathogenetic role of anti-GM1 in chronic acquired demyelinating polyneuropathy (CADP) is uncertain. An association between antibodies and disease activity has not yet been established. In 8 patients with CADP followed longitudinally, anti-GM1 antibodies were monitored with a standardized enzyme-linked immunosorben...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410430113
更新日期:1998-01-01 00:00:00
abstract::A 37-year-old woman with primary Sjögren syndrome developed mixed cryoglobulinemia and systemic vasculitis. Subarachnoid hemorrhage occurred as a result of necrotizing anterior spinal arteritis. Although rarely seen in mixed cryoglobulinemia, central nervous system complications have recently been documented in Sjögre...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110614
更新日期:1982-06-01 00:00:00
abstract:OBJECTIVE:The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is well established. The purpose of this study was to investigate the range of epilepsy syndromes for which CACNA1H variants may contribute to the genetic susceptibility architecture and determ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21169
更新日期:2007-12-01 00:00:00
abstract::The in vivo demyelinating capacity of sera from 27 patients with Guillain-Barré syndrome (GBS) and 47 other individuals was studied by intraneural injection into rat sciatic nerves. The morphological features of the nerves in cross section taken just proximal to the site of needle insertion was assessed 48 hours after...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110112
更新日期:1982-01-01 00:00:00
abstract::Patients with atrial fibrillation are at risk for cerebral embolism; however, the roles of chronic anticoagulation or antiplatelet therapy for stroke prevention in patients with nonvalvular atrial fibrillation have been controversial. Recently, the results of three large prospective randomized trials that examined the...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410300402
更新日期:1991-10-01 00:00:00
abstract::Eight patients with recent cerebral hemispheric infarction were studied with positron emission tomography and the oxygen-15 steady-state inhalation and [18F]deoxyglucose techniques to obtain values of regional cerebral blood flow, oxygen consumption, and glucose metabolism. The Sokoloff equation, used to calculate glu...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140605
更新日期:1983-12-01 00:00:00
abstract:OBJECTIVE:Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutation...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.24410
更新日期:2015-07-01 00:00:00
abstract::We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220412
更新日期:1987-10-01 00:00:00
abstract:OBJECTIVE:To identify novel autoantibodies for neuropathic pain (NeP). METHODS:We screened autoantibodies that selectively bind to mouse unmyelinated C-fiber type dorsal root ganglion (DRG) neurons using tissue-based indirect immunofluorescence assays (IFA) with sera from 110 NeP patients with various inflammatory and...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25279
更新日期:2018-08-01 00:00:00
abstract::We have observed many focal dilatations or very small aneurysms in terminal arterioles and capillaries of 4 of 5 patients and 6 dogs who had recently undergone cardiopulmonary bypass. A smaller number of sausagelike dilatations distended medium-sized arterioles. Two other patients had a small number of the same microv...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280403
更新日期:1990-10-01 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
abstract::A 37-year-old homosexual man with the acquired immune deficiency syndrome (AIDS) developed progressive, ultimately fatal, neurological deficits 12 weeks after a course of cutaneous zoster. Premortem radiological procedures and cerebrospinal fluid analyses were nondiagnostic. At postmortem examination, several opportun...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410190212
更新日期:1986-02-01 00:00:00
abstract::By most measures, academic neurology is thriving as never before, yet convening forces are changing the face of academic neurology. This report focuses on changes that academic neurology and the American Neurological Association could undertake to seize new opportunities and resist damaging potential changes. These pr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410390604
更新日期:1996-06-01 00:00:00
abstract::A human immunodeficiency virus (HIV-I) was isolated from the brain of a patient with progressive dementia but no obvious immunosuppression. This isolate, designated as HIV-IBR, was molecularly cloned and sequenced, and its long terminal repeat (LTR) and envelope sequences were compared with those of other HIV isolates...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230717
更新日期:1988-01-01 00:00:00
abstract::We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10747
更新日期:2003-11-01 00:00:00
abstract::Intraneural injection of antisera from rabbits with high antigalactocerebroside antibody levels into rat sciatic nerve produced acute nerve conduction block. This was first apparent in some motor axons between 30 and 60 minutes after injection and progressed to completion within 2 to 4 hours. Concurrent morphological ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110506
更新日期:1982-05-01 00:00:00
abstract::Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromoso...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410370610
更新日期:1995-06-01 00:00:00
abstract::Gustatory sweating is an autonomic disorder that frequently occurs after parotid gland surgery. We investigated the action of intracutaneous injections of botulinum toxin (BTX) (1.0-2.0 mouse units/2.25-cm2 skin area) in 45 patients (mean age, 52 years) with gustatory sweating. The area of hyperhidrosis was determined...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.410420619
更新日期:1997-12-01 00:00:00
abstract::N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2001-04-01 00:00:00