Abstract:
:We used [18F]-2-fluoro-2-deoxy-D-glucose (FDG) and PET to study regional cerebral glucose utilization in seven patients with fatal familial insomnia (FFI), an inherited prion disease with a mutation at codon 178 of the prion protein gene. Four patients were methionine/methionine homozygotes at codon 129 (symptom duration, 8.5 +/- 1 months) and three were methionine/valine (MET/VAL129) heterozygotes (symptom duration, 35 +/- 11 months). A severely reduced glucose utilization of the thalamus and a mild hypometabolism of the cingulate cortex were found in all FFI patients. In six subjects the brain hypometabolism also affected the basal and lateral frontal cortex, the caudate nucleus, and the middle and inferior temporal cortex. Comparison between homozygous or heterozygous patients at codon 129 showed that the hypometabolism was more widespread in the MET/VAL129 group, which had a significantly longer symptom duration at the time of [18F] FDG PET study. Comparison between neuropathologic and [18F] FDG PET findings in six patients showed that areas with neuronal loss were also hypometabolic. However, cerebral hypometabolism was more widespread than the histopathologic changes and significantly correlated with the presence of protease-resistant prion protein (PrPres). Our findings indicate that hypometabolism of the thalamus and cingulate cortex is the hallmark of FFI, while the involvement of other brain regions depends on the duration of symptoms and some unknown factors specific to each patient. The present data also support the notion that PrPres formation is the cause of neuronal dysfunction in prion diseases.
journal_name
Neurologyjournal_title
Neurologyauthors
Cortelli P,Perani D,Parchi P,Grassi F,Montagna P,De Martin M,Castellani R,Tinuper P,Gambetti P,Lugaresi E,Fazio Fdoi
10.1212/wnl.49.1.126subject
Has Abstractpub_date
1997-07-01 00:00:00pages
126-33issue
1eissn
0028-3878issn
1526-632Xjournal_volume
49pub_type
杂志文章相关文献
NEUROLOGY文献大全abstract::To evaluate possible progressive metabolic changes in Duchenne muscular dystrophy, we used 31P nuclear magnetic resonance spectroscopy to measure high-energy phosphate compounds and phosphorylated diesters (PDE) in resting gastrocnemius muscle of 14 Duchenne patients and 10 normal boys. The patients had higher inorgan...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.37.1.165
更新日期:1987-01-01 00:00:00
abstract::The authors demonstrate the potential for poststroke return of activation in regions normally involved in touch discrimination in a serial, whole-brain fMRI study of a patient with marked sensory loss followed by good recovery. A return of activation in ipsilesional primary and bilateral secondary somatosensory cortic...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.59.5.749
更新日期:2002-09-10 00:00:00
abstract:OBJECTIVE:To use a historical placebo control design to determine whether lithium carbonate slows progression of amyotrophic lateral sclerosis (ALS). METHODS:A phase II trial was conducted at 10 sites in the Western ALS Study Group using similar dosages (300-450 mg/day), target blood levels (0.3-0.8 mEq/L), outcome me...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/WNL.0b013e31822dc7a5
更新日期:2011-09-06 00:00:00
abstract:OBJECTIVE:To determine the stage of training at which neurology residents should achieve individual elements of the Accreditation Council for Graduate Medical Education neurology Milestones and to examine the relationship between perceived importance of Milestones and the stage by which they should be achieved. METHOD...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000006361
更新日期:2018-10-16 00:00:00
abstract:OBJECTIVE:To evaluate interictal, circulating sphingolipids in women migraineurs. METHODS:In the fasting state, serum samples were obtained pain-free from 88 women with episodic migraine (EM; n=52) and from controls (n=36). Sphingolipids were detected and quantified by high-performance liquid chromatography coupled wi...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000002004
更新日期:2015-10-06 00:00:00
abstract:OBJECTIVE:To test the hypothesis that higher-challenge gait and balance tasks are more sensitive than traditional metrics to subtle patient-reported gait dysfunction and future fall risk in early multiple sclerosis (MS). METHODS:Persons with early MS (n = 185; ≤5 years diagnosed) reported gait function (MS Walking Sca...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000008938
更新日期:2020-03-31 00:00:00
abstract::The majority of patients with traumatic brain injury (TBI) are classified as having a mild TBI. Despite being categorized as mild, these individuals report ongoing and complex symptoms, which negatively affect their ability to complete activities of daily living and overall quality of life. Some of the major symptoms ...
journal_title:Neurology
pub_type: 杂志文章,评审
doi:10.1212/WNL.0000000000010830
更新日期:2020-11-03 00:00:00
abstract::Antiepileptic drug use was documented before and after temporal lobectomy. Carbamazepine, phenytoin, and clobazam were the most commonly used drugs, both pre- and postoperatively. Preoperatively, polytherapy was used in 78% of patients; at 6 months follow-up, 47%; at 12 months, 18%; and at 24 months, 14%. Preoperative...
journal_title:Neurology
pub_type: 临床试验,杂志文章
doi:10.1212/wnl.51.1.305
更新日期:1998-07-01 00:00:00
abstract::We studied the effects of 3-methoxy, 4-hydroxy-phenylalanine (3-OM-dopa) on monoamine turnover, L-3-4-dihydroxy-phenylalanine (L-dopa) reversal of catecholamine depletion induced by alpha-methyl-paratyrosine (alpha-MT), and the passage of L-dopa across the blood-brain barrier of the rat brain. 3-OM-dopa did not affect...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.3.278
更新日期:1983-03-01 00:00:00
abstract:OBJECTIVE:To investigate the cognitive skills of patients with relapsing remitting multiple sclerosis (RRMS), secondary progressive MS (SPMS), and primary progressive MS (PPMS) relative to healthy control subjects and to assess whether there is heterogeneity in the type of cognitive disabilities demonstrated by patient...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000129828.03714.90
更新日期:2004-07-27 00:00:00
abstract:BACKGROUND:Antiretroviral therapy has improved survival for HIV-1-infected individuals. The neuroepidemiologic implications of HIV-1 in an aging population are not well known, particularly the prevalence of HIV-associated dementia (HAD). METHODS:The authors report a baseline cross-sectional analysis of 202 HIV-1-serop...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000134665.58343.8d
更新日期:2004-09-14 00:00:00
abstract:OBJECTIVE:To summarize current and emerging imaging techniques that can be used to assess neuroprotection and repair in multiple sclerosis (MS), and to provide a consensus opinion on the potential utility of each technique in clinical trial settings. METHODS:Clinicians and scientists with expertise in the use of MRI i...
journal_title:Neurology
pub_type: 共识发展会议,杂志文章,评审
doi:10.1212/WNL.0000000000007099
更新日期:2019-03-12 00:00:00
abstract::We have performed positron emission tomography (PET) with 2-deoxy-2[18F]fluoro-D-glucose (FDG) in eight infants and children (aged 18 days to 5 years) with medically refractory epilepsy of neonatal onset. It was hypothesized that in at least some of these infants a surgical approach (focal resection, cerebral hemisphe...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.38.8.1178
更新日期:1988-08-01 00:00:00
abstract::When multiple sclerosis (MS) presents late in life (after the age of 50), it frequently gives diagnostic difficulty. In a large MS clinic population (N = 838), 9.4% of the patients had late onset of MS. Slow deterioration of motor function characterized the initial symptoms and subsequent course of this group of older...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.33.12.1537
更新日期:1983-12-01 00:00:00
abstract:OBJECTIVE:To examine neurofilament (Nf) concentrations according to symptom onset and clinical diagnostic certainty categories of amyotrophic lateral sclerosis (ALS). METHODS:We measured Nf light chain (NfL) and phosphorylated Nf heavy chain (pNfH) CSF and NfL serum levels in patients with ALS with first symptom onset...
journal_title:Neurology
pub_type: 杂志文章,多中心研究
doi:10.1212/WNL.0000000000004761
更新日期:2018-01-02 00:00:00
abstract:OBJECTIVES:The objective of this study was to clarify the characteristic brain MRI findings for genetically diagnosed CARASIL (cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy). METHODS:Seven patients with CARASIL carrying HTRA1 mutations (representing 6 Japanese families) we...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000001803
更新日期:2015-08-04 00:00:00
abstract:OBJECTIVE:To determine whether correlates of white matter integrity can provide general as well as specific insight into the chronic effects of head injury coupled with depression symptom expression in professional football players. METHOD:We studied 26 retired National Football League (NFL) athletes who underwent dif...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e318299ccf8
更新日期:2013-07-02 00:00:00
abstract:OBJECTIVE:To examine nonmotor outcomes and correlates of quality of life (QoL) 3 and 12 months after unilateral focused ultrasound thalamotomy in tremor-dominant Parkinson disease (TDPD). METHODS:Twenty-seven patients with TDPD in a double-blind, sham-controlled, randomized clinical trial underwent comprehensive neuro...
journal_title:Neurology
pub_type: 杂志文章,多中心研究,随机对照试验
doi:10.1212/WNL.0000000000006279
更新日期:2018-10-02 00:00:00
abstract::Recently published reports have suggested that multiple sclerosis (MS) may be associated with human retrovirus infection. Indeed, an autonomously proliferating T-cell clone was isolated from the CSF of an MS patient, an observation interpreted as indicating an infection with human T lymphotropic virus I (HTLV I). In v...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.38.1.28
更新日期:1988-01-01 00:00:00
abstract:OBJECTIVE:To localize a gene predisposing to benign epilepsy of childhood with centrotemporal spikes (BECTS). BACKGROUND:BECTS, or rolandic epilepsy, is the most prevalent idiopathic epilepsy syndrome in childhood. Functional relevant defects in the alpha 4 subunit of the neuronal nicotinic acetylcholine receptor (ACh...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.51.6.1608
更新日期:1998-12-01 00:00:00
abstract:OBJECTIVE:To assess the available evidence for the diagnostic accuracy of CSF testing for protein 14-3-3 in patients with suspected sporadic Creutzfeldt-Jakob disease (sCJD). METHODS:The authors performed a systematic review of the available literature from 1995 to January 1, 2011, to identify articles involving patie...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e31826d5fc3
更新日期:2012-10-02 00:00:00
abstract:OBJECTIVE:To assess the possible abnormalities in the baroreflex modulation of both the heart and the arterial vasculature, in order to better evaluate the role of baroreflex abnormalities in the generation of the cardiovascular symptoms and complications affecting the familial dysautonomia (FD) patient. METHODS:Twent...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/01.wnl.0000142034.92124.6a
更新日期:2004-10-26 00:00:00
abstract::The technique of intrathecal enhancement using metrizamide (Amipaque) combined with CT imaging enables both the morphologic and dynamic (serial) evaluation of the intracranial cerebrospinal fluid pathways. Three distinct metrizamide CT cisternographic patterns (delayed, intermediate, and normal) emerge in pediatric pa...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.28.1.71
更新日期:1978-01-01 00:00:00
abstract:OBJECTIVE:To examine associations of orthostatic hypotension (OH) with dementia and long-term cognitive decline and to update previously published results in the same cohort for stroke with an additional 16 years of follow-up. METHODS:We analyzed data from 11,709 participants without a history of coronary heart diseas...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0000000000006027
更新日期:2018-08-21 00:00:00
abstract::In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004). In the CMT2 patients, RLS was associated with positive sensory symptoms (10/10 versus 10/17; p = 0.026). T...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.52.5.1064
更新日期:1999-03-23 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 determine whether pergolide, a mixed D1/D2/D3 dopamine agonist, is efficacious and safe in the treatment of children with chronic tic disorders and Tourette syndrome. BACKGROUND:Neuroleptics, which block dopamine transmission, are currently used to treat children with severe tics, but major side effects a...
journal_title:Neurology
pub_type: 临床试验,杂志文章,随机对照试验
doi:10.1212/01.wnl.0000044058.64647.7e
更新日期:2003-02-25 00:00:00
abstract::A population-based case-control study in western Washington state was performed to assess the relation between head trauma and meningioma. Based on 200 case and 400 control subjects, head trauma was associated with an increased risk of meningioma (odds ratio = 1.83; 95% CI = 1.28, 2.62), especially head traumas occurr...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/wnl.58.12.1849
更新日期:2002-06-25 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:BACKGROUND:In patients with multiple sclerosis (MS), contrast-enhancing lesions (CELs) on postcontrast MRI are considered markers of the inflammatory responses associated with blood-brain barrier breakdown. Based upon shape, CELs may be defined as nodular (nCEL) or ring (rCEL) lesions. Several short-term studies pointe...
journal_title:Neurology
pub_type: 杂志文章
doi:10.1212/WNL.0b013e3181d31df5
更新日期:2010-03-09 00:00:00