Abstract:
BACKGROUND:About 20% of patients with familial hemiplegic migraine (FHM) develop progressive cerebellar signs. Genetic studies have established an association with mutations in the CACNA1A gene. However, the mechanisms underlying cerebellar involvement are largely unknown. OBJECTIVE:To use proton MR spectroscopy (1H-MRS) to investigate metabolic alterations in the cerebellum as well as cortical regions known to be involved in the propagation of migraine aura. METHODS:Fifteen CACNA1A mutation carriers from three FHM families and 17 healthy control subjects were studied. Eleven patients had clinical signs of cerebellar involvement. LCModel fits were used to estimate absolute concentrations of N-acetyl aspartate (NAA), myo-inositol (mI), glutamate (Glu), choline-containing compounds, total creatine, and lactate in the superior cerebellar vermis (SCV), parietal cortex, and occipital cortex. To control for atrophy effects, automated image segmentation was performed using SPM99. The brain parenchyma fraction (BPF) was determined for all three regions. RESULTS:Compared with controls, the brain parenchyma fraction (BPF), NAA, and Glu were significantly reduced and mI was significantly elevated in the SCV of patients with FHM. In contrast, no metabolite alterations were found in supratentorial regions. BPF and NAA in the SCV significantly correlated with cerebellar scores, in particular, gait ataxia. CONCLUSIONS:The findings suggest that there is a regionally distinct neuronal impairment in the superior cerebellar vermis that exceeds macroscopic tissue loss. Correlations with clinical scores emphasize the functional relevance of localized atrophy (brain parenchyma fraction) and N-acetyl aspartate levels. These measures may be useful to monitor disease progression. The observed reduction in glutamate may in part reflect impaired glutamatergic neurotransmission.
journal_name
Neurologyjournal_title
Neurologyauthors
Dichgans M,Herzog J,Freilinger T,Wilke M,Auer DPdoi
10.1212/01.WNL.0000151855.98318.50subject
Has Abstractpub_date
2005-02-22 00:00:00pages
608-13issue
4eissn
0028-3878issn
1526-632Xpii
64/4/608journal_volume
64pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::We initiated a double-blind, placebo-controlled trial to test the efficacy and safety of branched-chain amino acids (BCAA) (L-leucine 12 g, L-isoleucine 6 g, and L-valine 6 g daily) in amyotrophic lateral sclerosis (ALS) patients. There was an excess mortality in subjects randomized to active treatment (24 BCAA, 13 pl...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/wnl.43.12.2466
更新日期:1993-12-01 00:00:00
abstract::In the wake of dramatic economic success during the past 2 decades, the specialized field of neurology has undergone a significant transformation in China. With an increase in life expectancy, the problems of aging and cognition have grown. Lifestyle alterations have been associated with an epidemiologic transition bo...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31823a0ed3
更新日期:2011-11-29 00:00:00
abstract:OBJECTIVE:Since Alzheimer disease (AD) is a slowly progressive disorder and its pathologic features are likely to be present for many years before symptoms become manifest, we investigated whether microstructural white matter changes similar to those identified in patients with AD can be detected in cognitively normal ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3182661f4d
更新日期:2012-08-21 00:00:00
abstract:OBJECTIVE:To determine the incidence of first seizures, epilepsy, and seizure mimics in a geographically defined area using the updated 2014 International League Against Epilepsy (ILAE) definition, which allows an epilepsy diagnosis after a single seizure when the risk of further seizures over the next 10 years is ≈60%...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000009980
更新日期:2020-08-04 00:00:00
abstract:OBJECTIVES:To investigate the role of beta oscillations in urinary voiding and their association with lower urinary tract symptoms in Parkinson disease (PD). METHODS:We used surgically implanted deep brain stimulation electrodes to record local field potential signals from the subthalamic nucleus (STN) and globus pall...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005355
更新日期:2018-04-24 00:00:00
abstract:OBJECTIVE:To describe the effects of the anti-tumor necrosis factor neutralizing antibody, infliximab, and the antiproliferative immunosuppressant, mycophenolate mofetil, in refractory neurosarcoidosis. METHODS:We treated patients with biopsy-proven sarcoidosis and CNS involvement, who had failed treatment with steroi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000341278.26993.22
更新日期:2009-01-27 00:00:00
abstract::An autoimmune reaction to the endplate acetylcholine receptor (AChR) is thought to be responsible for the muscular weakness of myasthenia gravis (MG). However, the significance of antithymic antibodies and the thymic AChR-like protein is still uncertain. We transferred immunoglobulins (Igs) from patients with MG to mi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.10.1356
更新日期:1983-10-01 00:00:00
abstract:OBJECTIVE:This study assessed the tissue integrity of major cervical cord tracts by using diffusion tensor imaging (DTI) to determine the relationship with specific clinical functions carried by those tracts. METHODS:This was a cross-sectional study of 37 patients with multiple sclerosis or neuromyelitis optica with r...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e318296e8f1
更新日期:2013-06-11 00:00:00
abstract::Central nervous system (CNS) dysfunction in patients with systemic lupus erythematosus (SLE) is highly variable, although it is often described under a single heading of "neuropsychiatric" or "CNS" SLE. To clarify these CNS abnormalities, we studied 91 lupus patients, 63 of whom had CNS symptoms or signs, over 599 pat...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.42.9.1649
更新日期:1992-09-01 00:00:00
abstract::We performed a retrospective study on a series of 119 of our patients who have Friedreich's disease to assess the predictive value of age at onset, gender, and left ventricular hypertrophy in regard to disease progression. Outcome variables were survival, time to loss of independent gait, and time to confinement in a ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.47.5.1260
更新日期:1996-11-01 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:OBJECTIVE:To evaluate the production rate of CSF in patients with differing disease states. METHODS:The authors measured the production rate of CSF in three groups of patients: five patients with PD below age 60 (aged 51 +/- 4 years, mean +/- SD), nine with PD over age 60 (aged 69 +/- 6 years, mean +/- SD), and seven ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.57.10.1763
更新日期:2001-11-27 00:00:00
abstract:OBJECTIVES:To identify gene mutations in patients with dystroglycanopathy and prove pathogenicity of those mutations using an in vitro cell assay. METHODS:We performed whole-exome sequencing on 20 patients, who were previously diagnosed with dystroglycanopathy by immunohistochemistry and/or Western blot analysis. We a...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001162
更新日期:2015-01-20 00:00:00
abstract:BACKGROUND:Genetic studies of PD frequently rely on family history interviews (FHI), yet the accuracy of data obtained in this way is unclear. OBJECTIVE:To assess the interinformant reliability and validity of family history information on PD in first-degree relatives of PD cases and controls. METHODS:A structured FH...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000074784.35961.c0
更新日期:2003-07-08 00:00:00
abstract:OBJECTIVE:To identify the genetic cause of a familial form of late-onset action myoclonus in 2 unrelated patients. Both probands had 2 siblings displaying a similar disorder. Extensive laboratory examinations, including biochemical assessment for urine sialic acid in the 2 probands, were negative. METHODS:Exome sequen...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/WNL.0000000000000482
更新日期:2014-06-03 00:00:00
abstract::Eighty-one percent (47/58) of private-sector neurologists in Colorado responded to a mail survey of practice patterns. We evaluated patient load, degree of principal versus consultative care, and use of neurodiagnostic tests. Broad areas of neurologic education that were perceived to have been lacking during residency...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.37.2.287
更新日期:1987-02-01 00:00:00
abstract::We describe a 78-year-old man with right hemiballism as the presenting symptom of a metastatic occult adenocarcinoma of the lung. CT demonstrated two contrast-enhancing lesions: one in the left subthalamic region and the other in the left parietal region. Metastatic tumor was confirmed at autopsy. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.34.2.204
更新日期:1984-02-01 00:00:00
abstract::The authors evaluated four patients with schizencephaly who underwent subtraction ictal SPECT coregistered to MRI (SISCOM) prior to epilepsy surgery. Three patients had a SISCOM alteration that was concordant with the epileptic brain tissue. Two of these patients were rendered seizure-free and one individual experienc...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000147262.70507.76
更新日期:2004-12-28 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:OBJECTIVE:To assess the clinical, urodynamic, and neurophysiologic features of patients with persisting bladder, bowel, and sexual dysfunction after transverse myelitis in myelin oligodendrocyte glycoprotein antibody (MOG-Ab) disease. METHODS:Patients with a history of MOG-Ab disease-related transverse myelitis seen p...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000011030
更新日期:2020-11-24 00:00:00
abstract:OBJECTIVE:To characterize the present state of brain death (BD) determination in actual practice relative to contemporary American Academy of Neurology (AAN) guidelines. METHODS:We reviewed the charts of all adult (16 years and older) BD organ donors during 2011 from 68 heterogeneous hospitals in the Midwest United St...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/01.wnl.0000436938.70528.4a
更新日期:2013-12-03 00:00:00
abstract:OBJECTIVE:To describe a new familial association of late-onset dementia, patchy leukoencephalopathy, intracerebral hemorrhages, bilateral occipital calcifications (BOC), and external carotid artery dysplasia (ECAD). METHODS:At age 62, the proband, who was of Spanish descent, had left temporal hemorrhage in a backgroun...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.55.11.1661
更新日期:2000-12-12 00:00:00
abstract:BACKGROUND:After Pokémon viewing triggered an epidemic of seizures in Japan, many efforts have been made to design safety guidelines and systems to protect subjects with photosensitivity. The authors developed a new method based upon nonlinear diffusion techniques capable of filtering the epileptogenic content of a vid...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.WNL.0000152875.67527.61
更新日期:2005-03-08 00:00:00
abstract::Medical therapy is the mainstay for epilepsy, with most patients well controlled on a single antiepileptic drug (AED). In this non-refractory group, many patients have medication side effects and occasional seizures. Approximately 30% of patients with partial epilepsy and 25% of patients with generalized epilepsy are ...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/wnl.64.12_suppl_3.s2
更新日期:2005-06-28 00:00:00
abstract:OBJECTIVE:Learning and memory impairments are prevalent among persons with multiple sclerosis (MS); however, such deficits are only weakly associated with MS disease severity (brain atrophy). The cognitive reserve hypothesis states that greater lifetime intellectual enrichment lessens the negative impact of brain disea...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181e396be
更新日期:2010-06-15 00:00:00
abstract::Lafora disease is a teenage onset progressive myoclonus epilepsy caused by mutations in the EPM2A gene. In this report, we describe new mutations within EPM2A, review the known mutations to date to identify the most common, and describe three simple tests for prenatal and carrier screening. ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.54.2.488
更新日期:2000-01-25 00:00:00
abstract::We studied the effects of long-term fish oil (FO) dietary supplementation on brain edema, polymorphonuclear neutrophil (PMN) infiltration, and infarct size in a rat stroke model. Rats were given regular rat chow with or without FO supplement (20% of total calories) for 7 weeks. Body weight did not differ between the t...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.43.6.1227
更新日期:1993-06-01 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::We report a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies. The patient had a large inframe deletion extending from exons 3 to 41 of the dystrophin gene, which would be expected to cause the production ...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.44.9.1648
更新日期:1994-09-01 00:00:00
abstract:OBJECTIVE:To present the current terminology and natural history of neurofibromatosis 1 (NF1) cutaneous neurofibromas (cNF). METHODS:NF1 experts from various research and clinical backgrounds reviewed the terms currently in use for cNF as well as the clinical, histologic, and radiographic features of these tumors usin...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000005792
更新日期:2018-07-10 00:00:00