Abstract:
OBJECTIVE:We investigated mitochondrial DNA (mtDNA) variants in children with a first episode of acquired demyelinating syndromes (PD-ADS) of the CNS and their relationship to disease phenotype, including subsequent diagnosis of multiple sclerosis (MS). METHODS:This exploratory analysis included the initial 213 children with PD-ADS in the prospective Canadian Pediatric Demyelinating Study and 166 matched healthy sibling controls from the Canadian Autism Genome Project. A total of 31 single nucleotide polymorphisms (SNPs) were analyzed, including haplogroup-defining SNPs and mtDNA variants previously reported to be associated with MS. RESULTS:Primary Leber hereditary optic neuropathy (LHON) mutations and other known pathogenic mtDNA mutations were absent in both patients with pediatric acquired demyelinating syndromes and controls. The 13708A haplogroup J-associated variant, previously linked to adult MS, was more frequent among subjects with PD-ADS (13.0%) compared to controls (6.2%; odds ratio [OR] 2.27; 95% confidence interval [CI] 1.06 to 4.83) and haplogroup M was associated with an earlier age at onset of PD-ADS (-1.74 years; 95% CI -3.33 to -0.07). In contrast, the haplogroup cluster UKJT, as well as 3 other SNPs, were each associated with a lower risk of PD-ADS. A total of 33 subjects with PD-ADS were diagnosed with MS during a mean follow-up period of 3.11 ± 1.14 (SD) years. No single SNP was associated with the risk of subsequent diagnosis of MS. However, haplogroup H was associated with an increased risk of MS (OR 2.60; 95% CI 1.21 to 5.55). CONCLUSION:These data suggest an association between mtDNA variants and the risk of PD-ADS and of a subsequent MS diagnosis. Replication of these findings in an independent population of subjects with PD-ADS is required.
journal_name
Neurologyjournal_title
Neurologyauthors
Venkateswaran S,Zheng K,Sacchetti M,Gagne D,Arnold DL,Sadovnick AD,Scherer SW,Banwell B,Bar-Or A,Simon DK,Canadian Pediatric Demyelinating Disease Network.doi
10.1212/WNL.0b013e31820ee1bbsubject
Has Abstractpub_date
2011-03-01 00:00:00pages
774-80issue
9eissn
0028-3878issn
1526-632Xpii
WNL.0b013e31820ee1bbjournal_volume
76pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::We studied recovery of function in 41 patients with right hemisphere stroke. Recovery was rapid for left neglect, prosopagnosia, anosognosia, and unilateral spatial neglect on drawing (USN). Recovery was slower for h mianopia, hemiparesis, motor impersistence, and extinction. Rates of recovery were intermediate for co...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.3.345
更新日期:1983-03-01 00:00:00
abstract::Measurements of cerebral metabolism in patients with Alzheimer's disease (AD) using PET are artifactually depressed due to partial volume averaging of brain tissue activity with enlarged CSF spaces. To investigate the effects of correction for the expansion of CSF spaces on regional metabolic measures, as well as the ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.47.2.454
更新日期:1996-08-01 00:00:00
abstract:BACKGROUND:Both AD and normal aging cause brain atrophy, limiting the ability of MRI to distinguish between AD and age-related brain tissue loss. MRS imaging (MRSI) measures the neuronal marker N-acetylaspartate (NAA), which could help assess brain change in AD and aging. OBJECTIVES:To determine the effects of AD on c...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/wnl.58.6.928
更新日期:2002-03-26 00:00:00
abstract:OBJECTIVE:Cell-based therapies are being investigated as an adjunct to IV thrombolysis or mechanical thrombectomy in ischemic stroke. This review summarizes the potential applications as well as challenges of intravascular cell delivery in ischemic stroke. METHOD:We conducted a search of Medline as well as the clinica...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/WNL.0b013e31826959d2
更新日期:2012-09-25 00:00:00
abstract::We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfe...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.7.1602
更新日期:1999-10-22 00:00:00
abstract::Six neonates with prolonged, intractable seizures were treated with valproic acid (VPA). Each patient had received maximum doses of phenobarbital (greater than 40 micrograms/ml), and five patients received at least two additional anticonvulsants, without success. Seizure activity was controlled in five of six (83%) ca...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.38.3.467
更新日期:1988-03-01 00:00:00
abstract:OBJECTIVE:To determine serial MRI and CT abnormalities around calcified cysts due to cysticercosis in previously treated patients during periods of seizure activity. BACKGROUND:Some patients with calcified lesions due to cysticercosis have seizures. How and why seizures occur in this setting are unknown. METHODS:Thre...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.4.777
更新日期:1999-09-11 00:00:00
abstract:OBJECTIVE:To examine the influence of birthdays on the onset and course of vascular events such as stroke, TIA, and acute myocardial infarction (AMI). METHODS:This population-based study included all emergency department (ED) admissions due to ischemic stroke, TIA, or AMI from April 2002 to March 2004 in Ontario, Cana...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000217915.06544.aa
更新日期:2006-07-25 00:00:00
abstract::A clinical procedure for determining contrast sensitivity was performed on patients with suspected sella area masses. The test consisted of a series of six plates, each containing a bar pattern of fixed sinusoidal spatial frequency in which contrast varies along the length of the bar. Patients with compressive lesions...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.31.5.550
更新日期:1981-05-01 00:00:00
abstract::A 3-year 8-month-old girl died after 14 months of illness characterized by episodes of intermittent ataxia associated with oculomotor palsy, hypotonia, mental confusion, and disturbances of consciousness. In the last 4 months of life, there were signs of liver dysfunction. Pyruvate dehydrogenase and alpha-ketoglutarat...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.29.12.1578
更新日期:1979-12-01 00:00:00
abstract::We assessed the ability to recognize epileptiform abnormalities on a video review of ambulatory cassette EEGs (A/EEG) by comparing two independent interpretations of an A/EEG to those derived from a routine recording and intensive monitoring by cable telemetry (C/EEG) of the same 40 patients. Both A/EEG readings concu...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.7.853
更新日期:1983-07-01 00:00:00
abstract::We attempted to define the role of subtle changes in the normal-appearing white matter (NAWM) in the development of disability in multiple sclerosis (MS). Twenty-seven clinically definite MS patients with either relapsing-remitting or chronic-progressive courses and 10 sex- and age-matched controls entered the study. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.45.3.478
更新日期:1995-03-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that, in the context of robotic therapy designed to enhance proprioceptive feedback via a Hebbian model, integrity of both somatosensory and motor systems would be important in understanding interparticipant differences in treatment-related motor gains. METHODS:In 30 patients with chro...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/WNL.0000000000007041
更新日期:2019-03-05 00:00:00
abstract::To study the anti-Schwann cell activity of serum from patients with Guillain-Barré syndrome (GBS), we used a 51Cr-release cytotoxicity assay. Specific release of 51Cr mediated by GBS serum did not differ from that with normals or disease controls. Heating sera from GBS patients or controls at 56 or 50 degrees C for 30...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.9.1240
更新日期:1984-09-01 00:00:00
abstract::Two successive, 6-month, randomized, double-blind, controlled trials of prednisone showed that 0.75 mg/kg/d was the optimal dose to improve strength in boys with Duchenne muscular dystrophy (DMD). We attempted to maintain 93 boys on that dose for an additional 2 years. During the 3 years of observation, the decline in...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.41.12.1874
更新日期:1991-12-01 00:00:00
abstract::In a retrospective study of 103 corticosteroid-treated MS patients, the average rate of fracture events was 3.2% of the patients per year over 7.1 (+/- 5.7 SD) years at risk. Fractures of the ribs, pelvis, hip, or vertebrae occurred in 11 patients and became most common 5 years after starting steroids. Relatively high...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.7.1389
更新日期:1992-07-01 00:00:00
abstract:BACKGROUND:Studies have suggested that mood status is associated with an increased risk of stroke, though mostly based on measures of depression defined by symptoms alone rather than diagnostic criteria representative of clinically important distress and impairment. We investigated this association based upon a large p...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000304109.18563.81
更新日期:2008-03-04 00:00:00
abstract:OBJECTIVE:Given the limited information on cognitive function before Parkinson disease (PD) clinical onset in the general population, we sought to assess prodromal PD (pPD) probability and relate it to detailed cognitive performance in a community cohort. METHODS:In a population-based cohort of 1,629 dementia-free and...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000007453
更新日期:2019-05-07 00:00:00
abstract:BACKGROUND:The topodiagnostic value and specificity of nystagmus in patients with mesencephalic lesions and its relation to tonic torsional deficits and vertical saccade deficits is controversial and anecdotal. METHODS:The authors examined 11 patients with vascular MRI-identified mesencephalic lesions and clinical evi...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/01.wnl.0000038387.90128.8d
更新日期:2002-12-24 00:00:00
abstract::The question of the appropriate use of opiate analgesics in the management of chronic headache pain is under debate. Often, the management of headache pain is complicated by the overuse of dependency-promoting analgesics. Because of confusion about the use of analgesics in pain management, some patients are denied acc...
journal_title:Neurology
pub_type: 杂志文章
doi:
更新日期:1994-05-01 00:00:00
abstract:OBJECTIVE:To correlate muscle biopsy findings with prebiopsy and postbiopsy clinical course and response to therapy in polymyositis (PM) and sporadic inclusion body myositis (IBM). BACKGROUND:Existence of pure PM has recently been questioned; subsequently, the definition and criteria for diagnosing PM were debated. M...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000277527.69388.fe
更新日期:2008-02-05 00:00:00
abstract::A 47-year-old woman had myasthenia gravis with only moderate weakness and a consistently poor response to anticholinesterase medication. She was investigated with routine electrophysiologic studies and single-fiber electromyography. The studies showed a limited effect of anticholinesterase medication. There was a decr...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.25.1.80
更新日期:1975-01-01 00:00:00
abstract:OBJECTIVE:To explore the association between postmenopausal hormone therapy (HT) and Alzheimer disease (AD). METHODS:Twenty-year follow-up data from the Kuopio Osteoporosis Risk Factor and Prevention study cohort were used. Self-administered questionnaires were sent to all women aged 47-56 years, residing in Kuopio Pr...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000003696
更新日期:2017-03-14 00:00:00
abstract::A 48-year-old man presented with progressive spastic paraparesis and diffuse white matter involvement on neuroimaging that suggested a primary demyelinating disease. Brain biopsy 3 years after onset of symptoms demonstrated idiopathic granulomatous angiitis. In patients with MRI features of diffuse white matter diseas...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.49.6.1696
更新日期:1997-12-01 00:00:00
abstract::This report describes the effectiveness of gabapentin, a recently approved anticonvulsant, in seven patients with MS experiencing trigeminal neuralgia refractory to treatment with conventional medical therapy. Gabapentin relieved pain completely in six and significantly in the seventh patient. Gabapentin may be a valu...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.51.2.611
更新日期:1998-08-01 00:00:00
abstract:OBJECTIVE:To compare nondemented patients with Parkinson's disease (PD) with and without REM sleep behavior disorder (RBD) to healthy controls on quantitative EEG characteristics for both wakefulness and REM sleep. METHODS:Fifteen patients with PD (7 patients with polysomnographic-confirmed RBD [PD-RBD] and 8 patients...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000106460.34682.e9
更新日期:2004-02-10 00:00:00
abstract:OBJECTIVE:To investigate whether the presence of cerebral microbleeds, which present as focal lesions on imaging, is associated with a diffuse loss of white matter microstructural integrity in the brain. METHODS:In the prospective, population-based Rotterdam Scan Study, a total of 4,493 participants underwent brain MR...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000436609.20587.65
更新日期:2013-11-26 00:00:00
abstract:OBJECTIVE:To classify neuropathologic alterations in the brains of nondemented older adults using current sets of criteria for AD. BACKGROUND:AD neuropathologic alterations are found in the brains of some nondemented elderly subjects and suggest the possibility of presymptomatic AD. Three sets of guidelines have been ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.55.3.370
更新日期:2000-08-08 00:00:00
abstract::Using a radioreceptor technique, we assayed serum trihexyphenidyl levels in patients with dystonia being treated chronically with high dosage. We found a significant correlation between total daily dose and the daily lowest (trough) serum levels. There was no relationship between serum levels and therapeutic response ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.35.7.1066
更新日期:1985-07-01 00:00:00
abstract:BACKGROUND:The pathogenesis of stroke-like episodes in patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) remains unknown. METHODS:Fourteen stroke-like episodes in six patients with MELAS were studied using clinical, neuroradiologic, and electrophysiologic approaches...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.59.6.816
更新日期:2002-09-24 00:00:00