Abstract:
:The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leigh syndrome and their biological evolution in view of their genetic and clinical findings. Our study adds new neurodiagnostic insights to the current knowledge of Leigh syndrome, including association with overlapping syndromes, and the correlation of pathogenic genetic variants with neuroimaging phenotypes. ANN NEUROL 2020;88:218-232.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Alves CAPF,Teixeira SR,Martin-Saavedra JS,Guimarães Gonçalves F,Lo Russo F,Muraresku C,McCormick EM,Falk MJ,Zolkipli-Cunningham Z,Ganetzky R,Vossough A,Goldstein A,Zuccoli Gdoi
10.1002/ana.25789subject
Has Abstractpub_date
2020-08-01 00:00:00pages
218-232issue
2eissn
0364-5134issn
1531-8249journal_volume
88pub_type
杂志文章abstract::The titer of the scrapie agent was determined by measurements of time intervals from inoculation to onset of illness and from inoculation to death. Both intervals were found to be inversely proportional to the size of the dose injected intracerebrally into random-bred weanling Syrian hamsters. The logarithms of the ti...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410110406
更新日期:1982-04-01 00:00:00
abstract::Friedreich's ataxia (FA) is the most frequently inherited ataxia. To test the hypothesis that iron is increased in the cerebellum of patients with FA, we developed a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast. Relaxation rate (R2*) values in the unaf...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199907)46:1<123::aid-ana19>3.0.c
更新日期:1999-07-01 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::The topography and magnitude of increase in peripheral type benzodiazepine binding sites (omega 3 sites) was investigated autoradiographically in the brains of patients with ischemic cerebrovascular disease, with multiple sclerosis, and with malignant glioma. 3H-PK 11195, a selective omega 3 site ligand, was employed....
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410240603
更新日期:1988-12-01 00:00:00
abstract::To clarify the influence of gastric emptying on levodopa-related motor fluctuations in Parkinson's disease, we assessed mobility and plasma levodopa concentrations in 10 patients during five modes of levodopa administration: (1) standard intermittent oral (SIO), (2) intermittent duodenal (ID), (3) continuous duodenal ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230611
更新日期:1988-06-01 00:00:00
abstract:OBJECTIVE:Recent studies carried out on amyotrophic lateral sclerosis patients suggest that the disease might initiate in the motor cortex and spread to its targets along the corticofugal tracts. In this study, we aimed to test the corticofugal hypothesis of amyotrophic lateral sclerosis experimentally. METHODS:Sod1G8...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25833
更新日期:2020-10-01 00:00:00
abstract:OBJECTIVE:To identify brain regions, cell types, or both that generate abnormal electrical discharge in tuberous sclerosis complex (TSC). Here we examined excitatory and inhibitory synaptic currents in human tissue samples obtained from a TSC patient with no discernible cortical tubers and acute neocortical brain slice...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21058
更新日期:2007-02-01 00:00:00
abstract::White matter degeneration is one of the pathological conditions of dentatorubral-pallidoluysian atrophy. Autopsy brains exhibited a reduced number of glial cells in the lesions and an involvement of oligodendrocytes in nuclear inclusion formation, which previously has been recognized only as a pathological hallmark in...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10352
更新日期:2002-11-01 00:00:00
abstract::We evaluated the role of positron emission tomography (PET) with [18F]deoxyglucose (FDG) (FDG-PET) for planning surgery in 53 patients who had temporal lobectomy for uncontrolled seizures at National Institutes of Health from 1981 to 1990. Investigators blinded to PET data used results of telemetered video-electroence...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410320613
更新日期:1992-12-01 00:00:00
abstract::The North American study of plasmapheresis in Guillain-Barré syndrome (GBS) included early, standardized electrodiagnostic testing in 210 of the 245 patients. To determine the types of abnormalities and the relation to outcome, we analyzed the prospectively collected motor conduction data obtained during the first 30 ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410230407
更新日期:1988-04-01 00:00:00
abstract::Mutations of copper,zinc-superoxide dismutase (cu,zn SOD) are found in patients with a familial form of amyotrophic lateral sclerosis. When expressed in transgenic mice, mutant human cu,zn SOD causes progressive loss of motor neurons with consequent paralysis and death. Expression profiling of gene expression in SOD1-...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1252
更新日期:2001-12-01 00:00:00
abstract::Latency measurements between three potentials (waves I, III, and IV/V) of the human brainstem auditory response can allow early detection of certain posterior fossa lesions. The diagnostic use of these interwave latencies requires knowledge of what factors may prolong them in the absence of disease. Hypothermia appear...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410030416
更新日期:1978-04-01 00:00:00
abstract::The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410160109
更新日期:1984-07-01 00:00:00
abstract::We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-04-01 00:00:00
abstract::The etiology of neurodegenerative diseases remains enigmatic; however, evidence for defects in energy metabolism, excitotoxicity, and for oxidative damage is increasingly compelling. It is likely that there is a complex interplay between these mechanisms. A defect in energy metabolism may lead to neuronal depolarizati...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410380304
更新日期:1995-09-01 00:00:00
abstract:OBJECTIVE:Antiepileptic drugs (AEDs) are important for the treatment of epilepsy, psychiatric diseases, and pain syndromes. Small studies have suggested that AED treatment reduces serum levels of folate and vitamin B12. METHODS:This prospective monocenter study aimed at testing the hypothesis that AED treatment is ass...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22229
更新日期:2011-02-01 00:00:00
abstract::The pontine tegmentum contains the neurons responsible for generation of saccadic eye movements and certain phases of sleep. We studied two genetically unrelated patients with spinocerebellar degeneration and slow saccadic eye movements. Multiple all-night sleep studies in both patients disclosed absence of REM and st...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410070312
更新日期:1980-03-01 00:00:00
abstract::Effective surgical treatment of patients with intractable complex partial seizures depends on accurate preoperative seizure focus localization. We evaluated seizure localization with interictal and immediate postictal single photon emission computed tomographic images of cerebral perfusion using technetium-99m-hexamet...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410260512
更新日期:1989-11-01 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::We hypothesized that automated assessment of collaterals on computed tomography perfusion can predict the rate of infarct growth during transfer from a primary to a comprehensive stroke center for endovascular stroke treatment. We identified consecutive patients (N = 28) and assessed their collaterals based on the hyp...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25320
更新日期:2018-10-01 00:00:00
abstract::Six patients with Parkinson's disease were followed for 10 to 72 months after human embryonic mesencephalic tissue from four to seven donors was grafted unilaterally into the putamen (4 patients) or putamen plus caudate (2 patients). After 8 to 12 months, positron emission tomography showed a 68% increase of 6-L-[18F]...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420115
更新日期:1997-07-01 00:00:00
abstract::MK-801 and ketamine are noncompetitive N-methyl-D-aspartate (NMDA) receptor blockers that decrease brain injury in animal models of focal and global ischemia. Recent reports, however, suggested that MK-801 itself can damage neurons. Here we show that MK-801 (0.1 to 5.0 mg/kg) and ketamine (40 to 100 mg/kg) typically i...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410300609
更新日期:1991-12-01 00:00:00
abstract::The detection of 14-3-3 protein by Western immunoblot is a sensitive and specific cerebrospinal fluid marker of Creutzfeldt-Jakob disease (CJD). We developed a quantitative enzyme-linked immunosorbent assay (ELISA) that reliably detects 14-3-3 in cerebrospinal fluid. In a prospective study of 147 cerebrospinal fluid s...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:
更新日期:2000-09-01 00:00:00
abstract:OBJECTIVE:Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22119
更新日期:2010-11-01 00:00:00
abstract:OBJECTIVE:A 12-month double-blind sham-surgery-controlled trial assessing adeno-associated virus type 2 (AAV2)-neurturin injected into the putamen bilaterally failed to meet its primary endpoint, but showed positive results for the primary endpoint in the subgroup of subjects followed for 18 months and for several seco...
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.24436
更新日期:2015-08-01 00:00:00
abstract::Transcranial magnetic stimulation was performed in 2 patients with focal motor seizures in the right hand caused by a circumscribed tumor process affecting the left precentral gyrus. In both cases, paired-pulse transcranial magnetic stimulation showed a loss of intracortical inhibition for interstimulus intervals of 2...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10229
更新日期:2002-07-01 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:Though effective anti-human immunodeficiency virus (HIV) therapies are now available, they have variable penetration into the brain. We therefore aimed to assess changes over calendar time in the risk for HIV-associated dementia (HIV-D), and factors associated with HIV-D risk. METHODS:Using Concerted Action ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21225
更新日期:2008-02-01 00:00:00
abstract::In aphasia due to stroke, language-related activity shifts not only to undamaged cortex within the dominant hemisphere but also toward right-sided areas homotopical to the left-sided lesion. We examined whether a rightward shift takes place in primary progressive aphasia (PPA). Nineteen PPA patients participated, 19 h...
journal_title:Annals of neurology
pub_type: 临床试验,杂志文章
doi:10.1002/ana.20588
更新日期:2005-09-01 00:00:00
abstract::Because the symptomatic treatments for multiple sclerosis (MS) are limited, new approaches have been sought. Anatomical studies of MS lesions show a relative preservation of axons, and clinical studies suggest that some of the neurological impairment in patients with MS is physiological. Electrophysiological studies s...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410360728
更新日期:1994-01-01 00:00:00