Abstract:
:We investigated 185 families with ALS for evidence of anticipation and mitochondrial inheritance. Although initial analysis demonstrated significant anticipation of age at death between generations in patients with familial ALS, further analysis demonstrated features of regression to the mean, suggesting that the perceived differences are the result of bias. In addition, there was no evidence of an effect of preferential maternal inheritance, which would have supported transmission of mitochondrial DNA mutations.
journal_name
Neurologyjournal_title
Neurologyauthors
Bradley M,Bradley L,de Belleroche J,Orrell RWdoi
10.1212/01.WNL.0000160395.43761.ACsubject
Has Abstractpub_date
2005-05-10 00:00:00pages
1628-31issue
9eissn
0028-3878issn
1526-632Xpii
64/9/1628journal_volume
64pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::We present four patients with typical neonatal onset non-ketotic hyperglycinemia (NKH) who developed hydrocephalus requiring shunting in early infancy. Brain imaging revealed acute hydrocephalus, a megacisterna magna or posterior fossa cyst, pronounced atrophy of the white matter, and an extremely thin corpus callosum...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.54.3.754
更新日期:2000-02-08 00:00:00
abstract::Four of five members of a family complained of repeated attacks of hemiplegic migraine, migraine with aura of different types, or migraine without aura. The hemiplegia always outlasted the headache and was often accompanied by altered consciousness, aphasia, and, in one patient, coma; in this latter patient, the ictal...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.45.1.33
更新日期:1995-01-01 00:00:00
abstract:OBJECTIVE:To test the hypothesis that patients with multiple sclerosis (MS) with intereye asymmetry on low contrast letter acuity, and thickness of the retinal nerve fiber layer (RNFL), would exhibit corresponding changes in cortical timing and amplitude responses on pattern reversal multifocal visual evoked potentials...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3182661edc
更新日期:2012-08-21 00:00:00
abstract:OBJECTIVE:There is controversy about the clinical consequences of intermediate alleles (IAs) in Huntington disease (HD). The main objective of this study was to establish the clinical manifestations of IA carriers for a prospective, international, European HD registry. METHODS:We assessed a cohort of participants at r...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000002944
更新日期:2016-08-09 00:00:00
abstract::Co-morbid conditions frequently occur in childhood epilepsy and may significantly affect epilepsy and its treatment. Similarly, epilepsy and antiepileptic drugs (AEDs) may affect these associated conditions. Co-morbidities that have a significant association with childhood epilepsy include attention-deficit/hyperactiv...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.62.5_suppl_2.s17
更新日期:2004-03-09 00:00:00
abstract::The progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death. Neurologic signs tha...
journal_title:Neurology
pub_type: 评论,杂志文章
doi:10.1212/WNL.0000000000000091
更新日期:2014-02-04 00:00:00
abstract::"Healthy citizens are the greatest asset any country can have."-Sir Winston Churchill. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000000053
更新日期:2014-01-28 00:00:00
abstract::A national survey, based on a probability sample of patients admitted to short-term hospitals in the United States during 1973 to 1974 with a discharge diagnosis of an intracranial neoplasm, was conducted in 157 hospitals. The annual incidence was estimated at 17,000 for primary intracranial neoplasms and 17,400 for s...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.35.2.219
更新日期:1985-02-01 00:00:00
abstract::Two cases of giant-cell arteritis with cerebral arteritis are presented. The clinical situation and the suggestive but nonspecific angiographic features make the antemortem diagnosis possible. Greater awareness of this entity will facilitate its diagnosis and the institution of effective steroid therapy. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.27.8.794
更新日期:1977-08-01 00:00:00
abstract::We analyzed the clinical, CT, and angiographic findings in 50 black patients with carotid transient ischemic attacks (TIAs). Thirty-two percent had TIAs lasting less than 1 hour, 26% had TIAs lasting 1 to 6 hours, and 42% had TIAs lasting 6 to 24 hours. Fifty-two percent of TIA patients had CT evidence of cerebral inf...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.41.9.1410
更新日期:1991-09-01 00:00:00
abstract:OBJECTIVE:The presence of cranial autonomic symptoms often leads to a misdiagnosis of "sinus headache" in adult migraineurs, leading to unnecessary treatments and delaying appropriate migraine therapy. In this study, we examined the frequency of cranial autonomic symptoms in pediatric/adolescent patients with migraine....
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/WNL.0b013e31829d872a
更新日期:2013-07-30 00:00:00
abstract::In Swiss mice, muscimol (3 mg per kilogram, intraperitoneally) caused myoclonic jerks of the hindquarters. These jerks were strong, repetitive, more or less regular, and of high frequency (peak response, 76 per minute). Pretreatment with sodium gamma-hydroxybutyrate (50 to 200 mg per kilogram) caused a dose-dependent ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.32.4.434
更新日期:1982-04-01 00:00:00
abstract::Until 1995, treatment of strokes consisted exclusively of efforts to prevent recurrence. Proof that tissue plasminogen activator is useful for acute management is changing the approach to stroke patients. The development process has been difficult and the current treatment recommendations have been controversial. Rece...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.53.1.14
更新日期:1999-07-13 00:00:00
abstract:OBJECTIVE:It is known that muscle phosphorylase deficiency restricts carbohydrate utilization, but the implications for muscle fat metabolism have not been studied. We questioned whether patients with McArdle disease can compensate for the blocked muscle glycogen breakdown by enhancing fat oxidation during exercise. M...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000343002.74480.e4
更新日期:2009-02-24 00:00:00
abstract:OBJECTIVE:To assess the effects of the modified amino acid acetyl-dl-leucine (AL) on cerebellar ataxia, eye movements, and quality of life of patients with Niemann-Pick type C (NP-C) disease. METHODS:Twelve patients with NP-C disease were treated with AL 3 g/d for 1 week and then with 5 g/d for 3 weeks with a subseque...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000002041
更新日期:2015-10-20 00:00:00
abstract:BACKGROUND:Epidemiologic and laboratory studies suggest that nonsteroidal antiinflammatory drugs (NSAIDs) reduce risk of Alzheimer disease (AD). We therefore investigated the association between use of NSAIDs, aspirin, and the non-NSAID analgesic acetaminophen with incidence of dementia and AD. METHODS:Participants in...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000284596.95156.48
更新日期:2008-01-01 00:00:00
abstract::Twenty-seven patients with static or worsening chronic inflammatory-demyelinating polyradiculoneuropathy were randomly assigned to alternate day decremental prednisone therapy alone or with azathioprine (2 mg/kg) for 9 months. No statistically significant alterations were demonstrated between these treatment schedules...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.35.8.1173
更新日期:1985-08-01 00:00:00
abstract::We evaluated 85 patients with serologic evidence of Borrelia burgdorferi infection. Manifestations included encephalopathy (41), neuropathy (27), meningitis (2), multiple sclerosis (MS) (6), and psychiatric disorders (3). We performed lumbar punctures in 53, brain MRI in 33, and evoked potentials (EPs) in 33. Only pat...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.39.6.753
更新日期:1989-06-01 00:00:00
abstract:OBJECTIVE:To investigate the lateralization and localization of ictal EEG in focal epilepsy. METHODS:A total of 486 ictal EEG of 72 patients with focal epilepsy arising from the mesial temporal, neocortical temporal, mesial frontal, dorsolateral frontal, parietal, and occipital regions were analyzed. RESULTS:Surface ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.11.2022
更新日期:2001-12-11 00:00:00
abstract::It is generally believed that a diet high in carbohydrate improves exercise tolerance in patients with carnitine palmitoyltransferase II (CPT II) deficiency, but it has never been systematically investigated. The authors investigated the effect of a high- vs low-carbohydrate diet on exercise tolerance in four patients...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/01.wnl.0000078195.05396.20
更新日期:2003-08-26 00:00:00
abstract:OBJECTIVE:To assess the effects of levodopa on resting-state brain metabolism in PD. BACKGROUND:In previous studies the authors used [18F] fluorodeoxyglucose (FDG) and PET to quantify regional metabolic abnormalities in PD. They found that this disease is characterized reproducibly by a specific abnormal PD-related pa...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.11.2083
更新日期:2001-12-11 00:00:00
abstract::The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutam...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000225077.40532.a5
更新日期:2006-07-25 00:00:00
abstract::The one-and-a-half syndrome is a clinical disorder of extraocular movements characterized by a conjugate horizontal gaze palsy in one direction plus an internuclear ophthalmoplegia in the other. The syndrome is usually due to a single unilateral lesion of the paramedian pontine reticular formation or the abducens nucl...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.8.971
更新日期:1983-08-01 00:00:00
abstract:OBJECTIVE:To compare the efficacy, tolerability, and safety of IV methylprednisolone (IV MP) vs oral methylprednisolone (oMP) at equivalent high doses in patients with multiple sclerosis (MS) experiencing a recent relapse. METHODS:Patients with a clinical relapse within the previous 2 weeks and at least 1 gadolinium (...
journal_title:Neurology
pub_type: 杂志文章,随机对照试验
doi:10.1212/WNL.0b013e3181c3fd5b
更新日期:2009-12-01 00:00:00
abstract::A specific form of deep cerebral hemisphere infarction was identified in 11 of 1,600 stroke register patients. Despite the CT finding of a deep striatocapsular lesion, these patients showed evidence of both cortical and capsular abnormalities. Angiography showed significant proximal carotid artery lesions as well as e...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.11.1423
更新日期:1984-11-01 00:00:00
abstract::Methionine-enkephalin, substance P, and homovanillic acid concentrations were measured in the CSF of subjects not affected by neurologic disorders (group 1), and in parkinsonian patients who had a slight or moderate (group 2) or severe (group 3) disability. Homovanillic acid and substance P concentrations in the CSF o...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.4.516
更新日期:1984-04-01 00:00:00
abstract:BACKGROUND:Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant disorder associated with recurrent, episodic, painful, brachial neuropathy. The gene for HNA has been mapped to chromosome 17q25. Characteristic features including hypotelorism, short stature, and cleft palate occur in some patients. OBJECTIVE:T...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.11.1963
更新日期:2001-12-11 00:00:00
abstract::The occurrence of Creutzfeldt-Jakob disease (CJD) among American Indians and Alaska Natives in the United States was evaluated using national multiple cause-of-death data and medical information obtained from state health departments. Twelve CJD deaths were identified for 1981 through 2002, and the average annual age-...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000196473.46805.61
更新日期:2006-02-14 00:00:00
abstract::We studied 20 patients with an acute parietal stroke with hemisensory disturbances but no visual field deficit and no or only slight motor weakness, without thalamic involvement on CT or MRI and found three main sensory syndromes. (1) The pseudothalamic sensory syndrome consists of a faciobrachiocrural impairment of e...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.43.10.1942
更新日期:1993-10-01 00:00:00
abstract:BACKGROUND:The relationship between age-related memory decline and hippocampal anatomic changes is a matter of debate. OBJECTIVES:To investigate the relationship between age-related memory decline and MRI hippocampal anatomic changes in a cohort of healthy individuals. METHODS:In this cross-sectional study, 76 health...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181cb3e39
更新日期:2010-01-19 00:00:00