Abstract:
:Mitochondrial and cytoplasmic malic isoenzymes were assayed fluorometrically in digitonin-fractionated fibroblasts from three patients with Friedreich's ataxia (FA). Normal activity was found, failing to verify an earlier report of reduced fibroblast mitochondrial malic enzyme activity in FA. The previously reported disturbance in fibroblast mitochondrial malic enzyme may be an epiphenomenon in patients with the FA phenotype. Further studies are necessary to define the primary genetic defect in this inherited disorder.
journal_name
Neurologyjournal_title
Neurologyauthors
Fernandez RJ,Civantos F,Tress E,Maltese WA,De Vivo DCdoi
10.1212/wnl.36.6.869subject
Has Abstractpub_date
1986-06-01 00:00:00pages
869-72issue
6eissn
0028-3878issn
1526-632Xjournal_volume
36pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::Intracerebral hemorrhage (ICH) represents 8 to 15% of all strokes in the United States and 20 to 30% of all strokes in Japan and China. Although ICH represents a relatively small fraction of total strokes, it is a formidable disease, with a 30-day mortality rate two- to sixfold higher than that for ischemic stroke. Fu...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.51.3_suppl_3.s69
更新日期:1998-09-01 00:00:00
abstract::A 33-year-old man with complex partial seizures developed de novo hypertension after the initiation of carbamazepine, which resolved on discontinuation. Although rare, a variety of cardiovascular effects including hypertension have been reported with carbamazepine. Numerous mechanisms may be responsible; however, shar...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.59.2.275
更新日期:2002-07-23 00:00:00
abstract:OBJECTIVE:To report eight cases of sensory Guillain-Barré syndrome (GBS). BACKGROUND:The concept of sensory equivalent to ascending paralysis of GBS was raised in 1958, and the diagnostic criteria for a sensory loss and areflexia variant of GBS were proposed in 1981. However, clinical cases meeting these criteria have...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.56.1.82
更新日期:2001-01-09 00:00:00
abstract:OBJECTIVES:To establish the role of high-resolution CT imaging and tests of vestibulocollic reflexes in diagnosing and understanding the pathogenesis of the Tullio phenomenon. BACKGROUND:The Tullio phenomenon is a syndrome in which acoustic stimulation produces symptoms and signs of vestibular activation. It has previ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.54.3.722
更新日期:2000-02-08 00:00:00
abstract:BACKGROUND:Cross-sectional studies suggest gender differences in cognitive function and risk of AD in older persons. However, longitudinal studies comparing change in cognitive function and risk of AD in men and women have had mixed results. The authors investigated gender differences in rate of decline for different c...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000065892.67099.2a
更新日期:2003-06-10 00:00:00
abstract::A kindred is described with a dominantly inherited "pure" cerebellar ataxia in which the currently known spinocerebellar ataxias have been excluded. In the eight subjects studied, a notable clinical feature is slow progression, with the three least affected having only a mild degree of gait ataxia after three or more ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.10.1913
更新日期:2001-11-27 00:00:00
abstract:OBJECTIVE:To investigate the role of blocking antibodies in neonatal Guillain-Barré syndrome (GBS) occurring 12 days postpartum in a child born to a mother with ongoing GBS. METHODS:We studied plasma filtrate, purified IgG, and monovalent Fab fragments from the affected mother and serum from the neonate as well as ser...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.6.1246
更新日期:1999-10-12 00:00:00
abstract::Rosenthal fibers are present in several neurologic disorders. Their occurrence in widespread subependymal, subpial, and perivascular locations is thought to be diagnostic of Alexander's disease, but they have also been reported in rare adult cases. Some of these patients were neurologically intact with severe systemic...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.9.1733
更新日期:1992-09-01 00:00:00
abstract:OBJECTIVES:To assess the association of established multiple sclerosis (MS) risk variants in 3,254 African Americans (1,162 cases and 2,092 controls). METHODS:Human leukocyte antigen (HLA)-DRB1, HLA-DQB1, and HLA-A alleles were typed by molecular techniques. Single nucleotide polymorphism (SNP) genotyping was conducte...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31829bfe2f
更新日期:2013-07-16 00:00:00
abstract::The defect occurring when a patient fails to report a visual stimulus presented in a visual half-field may be attributed to hemianopia (deafferentation) caused by a geniculocalcarine lesion. However, failure to report a stimulus presented in a visual field may also be caused by hemispatial visual inattention. We repor...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.39.8.1125
更新日期:1989-08-01 00:00:00
abstract::Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.6.1220
更新日期:1992-06-01 00:00:00
abstract::We studied brain sections from 10 patients with the acquired immunodeficiency syndrome (AIDS) and progressive multifocal leukoencephalopathy (PML) by in situ hybridization with a biotin-labeled JC virus (JCV) DNA probe and by immunohistochemistry using antibody against the JCV capsid antigen. We compared the results w...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.40.7.1073
更新日期:1990-07-01 00:00:00
abstract::The excitability of the corticospinal system was studied in 23 healthy subjects in sleep stages NREM2, NREM4, REM, and wakefulness using transcranial magnetic stimulation. Assessment of motor thresholds, stimulus-response curves, and latencies of motor evoked potentials shows activation of the fast-conducting corticos...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/01.wnl.0000038762.11894.da
更新日期:2002-12-24 00:00:00
abstract:OBJECTIVE:To relate signs and symptoms to morphologic changes and presence of multiple mitochondrial DNA (mtDNA) deletions in a patient with autosomal dominant progressive external ophthalmoplegia (adPEO) and mitochondrial myopathy. BACKGROUND:An etiologic association between the somatic multiple mtDNA deletions in ad...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.53.1.79
更新日期:1999-07-13 00:00:00
abstract::This review summarizes evidence, primarily from recent human studies, indirectly supporting a novel hypothesis: that the assessment of healthy individuals' responses to standardized noxious stimuli in a controlled laboratory environment has important implications for the later risk of developing a broad spectrum of ch...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/01.wnl.0000171862.17301.84
更新日期:2005-08-09 00:00:00
abstract:OBJECTIVE:To investigate clinical differences in warm and cold complex regional pain syndrome (CRPS) phenotypes. BACKGROUND:CRPS represents inhomogeneous chronic pain conditions; approximately 70% patients with CRPS have "warm" affected limbs and 30% have "cold" affected limbs. METHODS:We examined 50 patients with "c...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000341930.35494.66
更新日期:2009-02-10 00:00:00
abstract:BACKGROUND:UK veterans who were deployed to the Gulf in 1990 to 1991 reported higher prevalence of neuromuscular symptoms. OBJECTIVE:To investigate whether these Gulf War-related symptoms were associated with objective evidence of neuromuscular dysfunction. METHODS:Forty-nine Gulf War veterans with more than four neu...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/01.wnl.0000032755.27372.fc
更新日期:2002-11-26 00:00:00
abstract:BACKGROUND:Computerized ambulatory monitoring provides real-time assessments of clinical outcomes in natural contexts, and it has been increasingly applied in recent years to investigate symptom expression in a wide range of disorders. The purpose of this study was to examine the feasibility and validity of this data c...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181c0d466
更新日期:2009-11-10 00:00:00
abstract::A 14-year-old boy with exercise-related myalgia and cramps had several episodes of myoglobinuria since early childhood. An episode at 2 years of age caused acute renal failure. Histochemical and biochemical analysis of muscle showed a combined defect of phosphofructokinase (PFK) and adenosine monophosphate (AMP) deami...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.50.1.296
更新日期:1998-01-01 00:00:00
abstract::A 53-year-old man presented with multiple right cranial nerve palsies that included the tongue. When the tongue was protruded, it deviated to the right. However, when the tongue was not protruded, he could readily turn the tip of the tongue to the left, but not to the right. Protrusion of the tongue requires the actio...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.10.1367
更新日期:1984-10-01 00:00:00
abstract::A 30-year-old woman was thought to have Friedreich's disease because of progressive ataxia, dysarthria, and titubation from age 3 years. Her diet was normal, and there were neither symptoms nor laboratory evidence of liver disease or fat malabsorption. Serum vitamin E content and the ratio of serum vitamin E to total ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.37.1.68
更新日期:1987-01-01 00:00:00
abstract:OBJECTIVE:To investigate whether tactile extinction alters the cortical somatosensory activations induced by hand vibration. BACKGROUND:Tactile extinction occurs mainly after right-brain lesions and consists of the inability to perceive a contralesional cutaneous stimulation when a similar stimulus is applied to the m...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.52.3.571
更新日期:1999-02-01 00:00:00
abstract::Noninvasive positive pressure ventilation prolongs survival in ALS but its effect on quality of life is unknown. The authors prospectively studied quality of life using the SF-36 questionnaire in a cohort of 16 ventilated patients with ALS. Noninvasive positive pressure ventilation improved scores in the "Vitality" do...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.1.153
更新日期:2001-07-10 00:00:00
abstract::The relationship between multiple sclerosis (MS) and primary Sjögren's syndrome (PSS) is ambiguous; it was suggested that some patients diagnosed with MS may instead have PSS. In a recent epidemiologic study, the prevalence of PSS was 2.7% in southern Sweden. We randomly selected 30 patients with definite MS from our ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.4.845
更新日期:1992-04-01 00:00:00
abstract:OBJECTIVE:To determine whether the Alzheimer's disease dementia conversion-related pattern (ADCRP) on [18F]FDG PET can serve as a valid predictor for the development of Alzheimer's disease dementia, the individual expression of the ADCRP (subject score) and its prognostic value were examined in subjects with mild cogni...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000011521
更新日期:2021-01-06 00:00:00
abstract:BACKGROUND:Saccades are essential for optimal visual function. Chiari type II malformation (CII) is a congenital anomaly of the cerebellum and brainstem, associated with spina bifida. OBJECTIVE:To investigate the effects of CII on saccades and correlate saccadic parameters with brain MRI measurements. METHODS:Saccade...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.WNL.0000166034.71337.5E
更新日期:2005-06-28 00:00:00
abstract::A cross-sectional survey and subsequent longitudinal study among diabetic residents of Rochester, MN--The Rochester Diabetic Neuropathy Study (RDNS)--is population-based and uses quantitative, validated, and unique end points to detect, classify, and stage neuropathy. Nondiabetic persons, drawn from the same populatio...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.41.6.799
更新日期:1991-06-01 00:00:00
abstract::Titus Lucretius Carus was an ancient Roman philosopher of the Epicurean school whose epic poem On the Nature of Things described numerous aspects of the natural world. In fact, much contemporary scientific understanding is consistent with or inspired by his work. Among Lucretius's contributions to neurology were his d...
journal_title:Neurology
pub_type: 传,历史文章,杂志文章
doi:10.1212/WNL.0b013e31822cfa34
更新日期:2011-09-06 00:00:00
abstract:BACKGROUND:Curative therapy for childhood cancer has dramatically improved over past decades. Therapeutic radiation has been instrumental in this success. Unfortunately, irradiation is associated with untoward effects, including stroke and other cerebrovascular disease (CVD). The Children's Oncology Group (COG) has dev...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/WNL.0b013e3181c17ea8
更新日期:2009-12-01 00:00:00
abstract:BACKGROUND:Patients with arm intention tremor due to multiple sclerosis (MS) often manifest eye movement deficits, illustrating the role of infratentorial brain in both ocular and manual movement control. Our previous study showed that both the amplitude of intention tremor and eye fixational movements were greatly enh...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000287071.51180.b1
更新日期:2008-01-08 00:00:00