Familial myoclonic dementia masquerading as Creutzfeldt-Jakob disease.

abstract：:There has been little exploration of major biologic regulators of cerebral development in autism. In archived neonatal blood of children with autistic spectrum disorders (n = 69), mental retardation without autism (n = 60), or cerebral palsy (CP, n = 63) and of control children (n = 54), we used recycling immunoaffini...

journal_title：Annals of neurology

authors： Nelson KB,Grether JK,Croen LA,Dambrosia JM,Dickens BF,Jelliffe LL,Hansen RL,Phillips TM

更新日期：2001-05-01 00:00:00

abstract：:Oxidative damage to DNA may play a role in both normal aging and in neurodegenerative diseases. We examined whether Alzheimer's disease (AD) is associated with increased oxidative damage to nDNA and mtDNA in postmortem brain tissue. We measured the oxidized nucleoside, 8-hydroxy-2'-deoxyguanosine (OH8dG), in DNA isola...

journal_title：Annals of neurology

authors： Mecocci P,MacGarvey U,Beal MF

更新日期：1994-11-01 00:00:00

abstract：:We studied local cerebral blood flow, as measured by autoradiography with digital image processing and by tissue morphology, in six rats 4 hours after occlusion of the proximal middle cerebral artery. A consistent, three-dimensional pattern of graded reductions in local cerebral blood flow involved the affected hemisp...

journal_title：Annals of neurology

authors： Tyson GW,Teasdale GM,Graham DI,McCulloch J

更新日期：1984-06-01 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

authors： Bonthius DJ,Wright R,Tseng B,Barton L,Marco E,Karacay B,Larsen PD

更新日期：2007-10-01 00:00:00

abstract：OBJECTIVE:Low vitamin D status at birth may be associated with risk of adult onset multiple sclerosis, but this link has not been studied directly. We assessed the relation between neonatal vitamin D concentrations, measured in stored blood samples, and risk of multiple sclerosis. METHODS:This was a population-based c...

journal_title：Annals of neurology

authors： Ueda P,Rafatnia F,Bäärnhielm M,Fröbom R,Korzunowicz G,Lönnerbro R,Hedström AK,Eyles D,Olsson T,Alfredsson L

更新日期：2014-09-01 00:00:00

abstract：OBJECTIVE:To determine whether cerebrovascular risk factors are associated with subsequent diagnoses of Parkinson disease, and whether these associations are similar in magnitude to those with subsequent diagnoses of Alzheimer disease. METHODS:This was a retrospective cohort study using claims data from a 5% random sa...

journal_title：Annals of neurology

authors： Kummer BR,Diaz I,Wu X,Aaroe AE,Chen ML,Iadecola C,Kamel H,Navi BB

更新日期：2019-10-01 00:00:00

abstract：:The clinical value of cerebrospinal fluid (CSF) polyamine determinations in childhood medulloblastoma has been suggested. We performed 72 CSF polyamine determinations in 35 children with primary brain tumors. Spermine values were normal and spermidine values were inconsistently elevated. CSF putrescine values, however...

journal_title：Annals of neurology

authors： Phillips PC,Kremzner LT,De Vivo DC

更新日期：1986-04-01 00:00:00

abstract：:We present a patient with hemidystonia and an abnormality of the contralateral basal ganglion seen only with positron emission tomography. A 50-year-old sinistral man suffered minor trauma to the right side of his head and neck. Within 20 minutes he developed paroxysmal intermittent dystonic posturing of his right fac...

journal_title：Annals of neurology

authors： Perlmutter JS,Raichle ME

更新日期：1984-03-01 00:00:00

abstract：:A brief description is given of neurofibrillary changes of the paired helical filament type in a variety of chronic neurological diseases. These include subacute sclerosing panencephalitis, lead encephalopathy, tuberous sclerosis, Down syndrome, Hallervorden-Spatz disease, and lipofuscinosis. In these conditions, with...

journal_title：Annals of neurology

authors： Wisniewski K,Jervis GA,Moretz RC,Wisniewski HM

更新日期：1979-03-01 00:00:00

abstract：:In this study, we preincubated the sera of 3 patients with neuropathies associated with elevated titers of IgM anti-GM1 antibodies, with increasing concentrations of intravenous Ig (IVIg) and assayed the inhibitory effect of this mixture on antibody binding to immobilized GM1 by an enzyme-linked immunosorbent assay. P...

journal_title：Annals of neurology

authors： Malik U,Oleksowicz L,Latov N,Cardo LJ

更新日期：1996-01-01 00:00:00

abstract：:A 65-year-old woman with normal pressure hydrocephalus experienced improved gait and hydrocephalus following surgical resection of a cauda equina neurinoma. Fibrinogen, detected in the cerebrospinal fluid, may be involved in the pathophysiological process of normal pressure hydrocephalus. ...

journal_title：Annals of neurology

authors： Ohta K,Gotoh F,Amano T,Obara K

更新日期：1990-04-01 00:00:00

abstract：:Immunohistochemical examination of 20 Down's syndrome brains, using antibodies to alpha-, beta-, and gamma-synuclein, demonstrated many alpha-synuclein-positive Lewy bodies and dystrophic neurites in 50% of amygdala samples from Down's syndrome brains with Alzheimer's disease. Similar lesions were less common in other...

journal_title：Annals of neurology

authors： Lippa CF,Schmidt ML,Lee VM,Trojanowski JQ

更新日期：1999-03-01 00:00:00

abstract：:A young man developed pathological thirst and hyperdipsia, hyperphagia, disordered temperature regulation, a lowered threshold for aggressive behavior, apathy, impaired memory, and seizures following encephalitis. He had marked hyponatremia. Bouts of water drinking produced water intoxication and precipitated status e...

journal_title：Annals of neurology

authors： Howe JG,Penney MD,Currie S,Morgan D

更新日期：1983-02-01 00:00:00

abstract：:Although most therapeutic efforts and experimental stroke models focus on the concept of complete occlusion of the middle cerebral artery as a result of embolism from the carotid artery or cardiac chamber, relatively little is known about the stroke mechanism of intrinsic middle cerebral artery stenosis. Differences i...

journal_title：Annals of neurology

authors： Wong KS,Gao S,Chan YL,Hansberg T,Lam WW,Droste DW,Kay R,Ringelstein EB

更新日期：2002-07-01 00:00:00

abstract：OBJECTIVE:The Veterans Administration Cooperative Studies Program #468, a multicenter study that randomized Parkinson's disease (PD) patients to either subthalamic nucleus (STN) or globus pallidus internus (GPi) deep brain stimulation (DBS), found that stimulation at either target provided similar overall motoric benef...

journal_title：Annals of neurology

authors： Katz M,Luciano MS,Carlson K,Luo P,Marks WJ Jr,Larson PS,Starr PA,Follett KA,Weaver FM,Stern MB,Reda DJ,Ostrem JL,CSP 468 study group.

更新日期：2015-04-01 00:00:00

abstract：:A young woman with Kearns-Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a "ragged red fiber" myopathy with reduced muscle carnitine and mitochondrial e...

journal_title：Annals of neurology

authors： Allen RJ,DiMauro S,Coulter DL,Papadimitriou A,Rothenberg SP

更新日期：1983-06-01 00:00:00

abstract：:Patients with the acquired immunodeficiency syndrome (AIDS) commonly display evidence of gross cerebral atrophy, but its true incidence and pathophysiology in the general AIDS population are unknown. In this study, we measured cerebrospinal fluid (CSF) spaces in 64 consecutively autopsied patients with AIDS, compared ...

journal_title：Annals of neurology

authors： Gelman BB,Guinto FC Jr

更新日期：1992-07-01 00:00:00

abstract：:Neural tube defects (NTDs) are among the most common birth defects in humans and yet their molecular etiology remains poorly understood. NTDs are believed to result from the complex interaction of environmental factors with a multitude of genetic risk factors in a classical multifactorial disease model. Mendelian form...

journal_title：Annals of neurology

authors： Al Mutairi F,Alzahrani F,Ababneh F,Kashgari AA,Alkuraya FS

更新日期：2018-02-01 00:00:00

abstract：OBJECTIVE:Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the c...

journal_title：Annals of neurology

authors： Moawia A,Shaheen R,Rasool S,Waseem SS,Ewida N,Budde B,Kawalia A,Motameny S,Khan K,Fatima A,Jameel M,Ullah F,Akram T,Ali Z,Abdullah U,Irshad S,Höhne W,Noegel AA,Al-Owain M,Hörtnagel K,Stöbe P,Baig SM,Nürnberg P

更新日期：2017-10-01 00:00:00

abstract：:An 18-year-old man with acne fulminans developed an acute inflammatory myositis, an association not previously reported. The condition resolved with treatment using systemic corticosteroids. ...

journal_title：Annals of neurology

authors： Noseworthy JH,Heffernan LP,Ross JB,Sangalang VE

更新日期：1980-07-01 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

authors： Johnston SC,Siedenberg R,Min JK,Jerome EH,Laxer KD

更新日期：1997-10-01 00:00:00

abstract：OBJECTIVE:To understand how monosynaptic inputs onto adult-born dentate granule cells (DGCs) are altered in experimental mesial temporal lobe epilepsy (mTLE) and whether their integration differs from early-born DGCs that are mature at the time of epileptogenesis. METHODS:A dual-virus tracing strategy combining retrov...

journal_title：Annals of neurology

authors： Du X,Zhang H,Parent JM

更新日期：2017-06-01 00:00:00

abstract：:A hereditary ceruloplasmin deficiency associated with severe iron deposition in visceral organ and brain tissues found on histopathological examination at autopsy is discussed. Three siblings of consanguineous Japanese parents were studied. Their clinical symptoms were progressive dementia, extrapyramidal disorders, c...

journal_title：Annals of neurology

authors： Morita H,Ikeda S,Yamamoto K,Morita S,Yoshida K,Nomoto S,Kato M,Yanagisawa N

更新日期：1995-05-01 00:00:00

abstract：:Understanding of the organization and function of a newly identified neuronal messenger molecule, nitric oxide, has progressed rapidly. Nitric oxide synthase has been purified and molecularly cloned from brain. Its localization is exclusively neuronal and endothelial. The catalytic activity of nitric oxide synthase ac...

journal_title：Annals of neurology

authors： Dawson TM,Dawson VL,Snyder SH

更新日期：1992-09-01 00:00:00

abstract：:Axonal loss is thought to be a likely cause of persistent disability after a multiple sclerosis relapse; therefore, noninvasive in vivo markers specific for axonal loss are needed. We used optic neuritis as a model of multiple sclerosis relapse to quantify axonal loss of the retinal nerve fiber layer (RNFL) and second...

journal_title：Annals of neurology

authors： Trip SA,Schlottmann PG,Jones SJ,Altmann DR,Garway-Heath DF,Thompson AJ,Plant GT,Miller DH

更新日期：2005-09-01 00:00:00

abstract：:Plasma valproate concentrations were monitored prospectively in 54 previously untreated adult patients with epilepsy. Dose and plasma concentration were highly correlated. Adverse effects were common in association with plasma levels above 100 micrograms/ml. In patients suffering tonic-clonic seizures without focal sy...

journal_title：Annals of neurology

authors： Turnbull DM,Rawlins MD,Weightman D,Chadwick DW

更新日期：1983-07-01 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

authors： Liu WK,Le TV,Adamson J,Baker M,Cookson N,Hardy J,Hutton M,Yen SH,Dickson DW

更新日期：2001-10-01 00:00:00

abstract：:Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...

journal_title：Annals of neurology

authors： Obici L,Demarchi A,de Rosa G,Bellotti V,Marciano S,Donadei S,Arbustini E,Palladini G,Diegoli M,Genovese E,Ferrari G,Coverlizza S,Merlini G

更新日期：2005-10-01 00:00:00

abstract：OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...

journal_title：Annals of neurology

authors： Furuya S,Nitsche MA,Paulus W,Altenmüller E

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVE:There are no validated methods for predicting the timing of seizures. Using machine learning, we sought to forecast 24-hour risk of self-reported seizure from e-diaries. METHODS:Data from 5,419 patients on SeizureTracker.com (including seizure count, type, and duration) were split into training (3,806 patien...

journal_title：Annals of neurology

authors： Goldenholz DM,Goldenholz SR,Romero J,Moss R,Sun H,Westover B

更新日期：2020-09-01 00:00:00