Abstract:
:Saturated very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high-performance liquid chromatography. Ratios of C26:0 to C22:0 in mononuclear cells, erythrocyte membranes, and blood plasma in patients with childhood-adolescent and adult adrenoleukodystrophy were significantly higher than in normal control subjects. Furthermore, ratios of C26:0 to C22:0 in mononuclear cells were significantly higher in patients with childhood-adolescent adrenoleukodystrophy than in patients with adult adrenoleukodystrophy, whereas there was no significant difference in the ratios in erythrocyte membranes and blood plasma between the two groups of patients with adrenoleukodystrophy. These results suggest that there is a correlation between phenotype and ratio of C26:0 to C22:0 within mononuclear cells in patients with adrenoleukodystrophy.
journal_name
Ann Neuroljournal_title
Annals of neurologyauthors
Antoku Y,Koike F,Ohtsuka Y,Sakai T,Tsukamoto K,Nagara H,Iwashita H,Goto Idoi
10.1002/ana.410300118subject
Has Abstractpub_date
1991-07-01 00:00:00pages
101-3issue
1eissn
0364-5134issn
1531-8249journal_volume
30pub_type
杂志文章abstract::There is currently no effective pharmacological treatment for amyotrophic lateral sclerosis (ALS). Because evidence suggests that multiple pathways may contribute to ALS pathogenesis, we tested in a mouse model of ALS (SOD1(G37R) mice) a combination approach consisting of three drugs for distinct targets in the comple...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10500
更新日期:2003-04-01 00:00:00
abstract::Macrophages are prominent participants in inflammatory demyelinating neuropathies. To provide a different means of evaluating macrophage behavior, we used immunostaining of teased nerve fibers and endoneurial blood vessels. We assessed the frequency with which macrophages were seen in inflammatory demyelinating neurop...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.410270717
更新日期:1990-01-01 00:00:00
abstract::Two families with a point mutation in mtDNA associated with myoclonic epilepsy and ragged-red fiber disease showed pronounced clinical heterogeneity. The mothers of the two families had adult-onset myopathy with ragged-red fibers, partial deficiency of cytochrome c oxidase, and sensory neuropathy. Members of the first...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410330613
更新日期:1993-06-01 00:00:00
abstract::Using three adjustments, we have revised a 1976 prevalence count for multiple sclerosis in the United States. The adjustments were made to data from a US national survey; they used 1990 population projections from the US Bureau of the Census, and results of investigations conducted in Weld and Larimer Countries, Color...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410310317
更新日期:1992-03-01 00:00:00
abstract:OBJECTIVE:Delayed cerebral ischemia (DCI) is a common, disabling complication of subarachnoid hemorrhage (SAH). Preventing DCI is a key focus of neurocritical care, but interventions carry risk and cannot be applied indiscriminately. Although retrospective studies have identified continuous electroencephalographic (cEE...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25232
更新日期:2018-05-01 00:00:00
abstract::The possibility of detecting acute hypoxic-ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case of a fetus with a vein of Galen arteriovenous malformation in whom prenatal diffusion-weighted magnetic resonance imaging at 33 weeks of gestation clearly detected cerebral a...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10255
更新日期:2002-08-01 00:00:00
abstract:OBJECTIVE:Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at the clinical, cellular, and molecular le...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.22087
更新日期:2010-10-01 00:00:00
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 Leig...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25789
更新日期:2020-08-01 00:00:00
abstract::The etiology of sudden death in patients with epilepsy remains unclear. Previous studies in a well-established sheep model of status epilepticus showed that more than one-third of the unsedated animals died within 5 minutes of seizure onset due to hypoventilation. The relative contributions of airway obstruction and c...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410420409
更新日期:1997-10-01 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::Neurotrophic factors have been demonstrated to prevent the development of peripheral neuropathy in animal models, but the therapeutic use of these factors in human disease has been limited by the short serum half-life and dose-limiting side effects of these potent peptides. We used peripheral subcutaneous inoculation ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10061
更新日期:2002-01-01 00:00:00
abstract::Two extended haplotypes of the tau gene (H1 and H2) have been described. The frequency of H1 haplotype is increased in progressive supranuclear palsy (PSP). PSP is associated with filamentous tau lesions in neurons and glia, which are reportedly composed exclusively of tau isoforms with four repeats in the microtubule...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.1159
更新日期:2001-10-01 00:00:00
abstract::Glucose metabolism is depressed in the temporal and parietal regions of the cortex in patients with Alzheimer's disease. We measured the concentrations of two glucose transporters, GLUT1 and GLUT3, in six regions of brains from both control subjects and patients with Alzheimer's disease. The concentrations of both tra...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410350507
更新日期:1994-05-01 00:00:00
abstract::A prospective clinical and biochemical study on the effects of treatment with haloperidol has been performed in seven patients with Tourette syndrome. Pretreatment cerebrospinal fluid levels of homovanillic acid (CSF HVA) were significantly reduce in all patients, whereas 5-hydroxyindoleacetic acid was reduced in only...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410120408
更新日期:1982-10-01 00:00:00
abstract::A 45-year-old woman was diagnosed as having the unclassified form of botulism. Her intestines may have been predisposed to colonization with Clostridium botulinum because of a jejunoileal bypass procedure that had been done several years earlier. One other similar case has been reported. ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410200516
更新日期:1986-11-01 00:00:00
abstract:OBJECTIVE:Lymphocytic choriomeningitis virus (LCMV) is a human pathogen and an emerging neuroteratogen. When the infection occurs during pregnancy, the virus can target and damage the fetal brain and retina. We examined the spectrum of clinical presentations, neuroimaging findings, and clinical outcomes of children wit...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.21161
更新日期:2007-10-01 00:00:00
abstract::Successful axon regeneration depends on the expression of regeneration-associated genes by axotomized neurons. Here, we demonstrate, for the first time to our knowledge, the expression of regeneration-associated genes by axotomized human CNS neurons. In situ hybridization and immunohistochemistry showed a transient in...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.10724
更新日期:2003-10-01 00:00:00
abstract::Cerebrospinal fluid (CSF) lymphocytes from three young patients undergoing acute exacerbations of multiple sclerosis were studied by flow cytometry. Using a new method that simultaneously measures cell-surface antigens and the cell-cycle phase, we determined that the CSF lymphocytes in these patients were activated. T...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410180617
更新日期:1985-12-01 00:00:00
abstract::Three young adults with intractable complex partial seizures were studied by electroencephalography, magnetoencephalography, and electrocorticography. Interictal electroencephalographic (EEG) spikes for each patient were grouped according to their morphological characteristics and distribution across channels. Mapping...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410220311
更新日期:1987-09-01 00:00:00
abstract::Fourteen patients with cauda equina syndrome secondary to long-standing ankylosing spondylitis are described. The roughly symmetrical neurological deficits were very slowly progressive and began long after the onset of the spondylitis, usually well after the rheumatological symptoms had stopped. Eventually every patie...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410140610
更新日期:1983-12-01 00:00:00
abstract::We describe 5 patients who presented with an acute cauda equina syndrome, which we believe was due to infarction of the conus medullaris. In 3 patients, the onset was spontaneous, and in 2 patients it was secondary to temporary occlusion of the distal aorta during medical manipulation. Pain in the buttocks and posteri...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410210510
更新日期:1987-05-01 00:00:00
abstract::We report the clinical and neuropathological findings in an immunocompetent 19-year-old patient with a fatal acute Epstein-Barr virus (EBV) meningoencephalitis and a lymphoma-like B-lymphocyte response. Our results suggest that an immunotoxic rather than direct viral neuronal invasion mediates brain damage in EBV ence...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199905)45:5<659::aid-ana16>3.0.c
更新日期:1999-05-01 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::An inception cohort of 40 children and adolescents with traumatic brain injury and suspected diffuse axonal injury were studied using a new high-resolution magnetic resonance imaging susceptibility-weighted technique that is very sensitive for hemorrhage. A blinded comparison was performed between the extent of parenc...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.20123
更新日期:2004-07-01 00:00:00
abstract::Benign familial neonatal convulsions (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief seizures within the first days of life. The disease is caused by mutations in one of two recently identified voltage-gated potassium channel genes, KCNQ2 or KCNQ3. Here, we describe a four-gene...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/1531-8249(199909)46:3<305::aid-ana5>3.0.co
更新日期:1999-09-01 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:OBJECTIVE:To evaluate the outcomes 1 year and longer following stereotactic laser amygdalohippocampotomy for mesial temporal lobe epilepsy in a large series of patients treated over a 5-year period since introduction of this novel technique. METHODS:Surgical outcomes of a consecutive series of 58 patients with mesial ...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.25180
更新日期:2018-03-01 00:00:00
abstract::We report the clinical features of 12 patients with drop attacks associated with Meniere's syndrome. Each described a sensation of being pushed, thrown, or knocked to the ground or a sudden illusion of movement of the environment that led to a fall. These episodes were not accompanied by symptoms of their typical atta...
journal_title:Annals of neurology
pub_type: 杂志文章
doi:10.1002/ana.410280314
更新日期:1990-09-01 00:00:00
abstract:OBJECTIVE:Therapeutic drug monitoring (TDM) of antiepileptic drugs (AEDs) is widely established for older generation AEDs, whereas there is limited evidence about newer AEDs. Our aim is to assess the benefit of TDM of newer generation AEDs in epilepsy. METHODS:We performed a randomized, controlled trial comparing syst...
journal_title:Annals of neurology
pub_type: 杂志文章,随机对照试验
doi:10.1002/ana.25641
更新日期:2020-01-01 00:00:00
abstract::Although Alzheimer's and Parkinson's diseases predominately affect elderly adults, the proteins that play a role in the pathogenesis of these diseases are expressed throughout life. In fact, many of the proteins hypothesized to be important in the progression of neurodegeneration play direct or indirect roles in the d...
journal_title:Annals of neurology
pub_type: 杂志文章,评审
doi:10.1002/ana.21841
更新日期:2010-02-01 00:00:00