Blood expression profiles for tuberous sclerosis complex 2, neurofibromatosis type 1, and Down's syndrome.

abstract：:Eight patients with recent cerebral hemispheric infarction were studied with positron emission tomography and the oxygen-15 steady-state inhalation and [18F]deoxyglucose techniques to obtain values of regional cerebral blood flow, oxygen consumption, and glucose metabolism. The Sokoloff equation, used to calculate glu...

journal_title：Annals of neurology

authors： Wise RJ,Rhodes CG,Gibbs JM,Hatazawa J,Palmer T,Frackowiak RS,Jones T

更新日期：1983-12-01 00:00:00

abstract：:The clinical and neuropathological findings in 28 cases of paramedian thalamic and midbrain infarcts are reported. The 4 instances of unilateral paramedian thalamic infarct were characterized by mood and behavioral changes, limitation of the infarct to the center of the anatomical paramedian territory, and symmetrical...

journal_title：Annals of neurology

authors： Castaigne P,Lhermitte F,Buge A,Escourolle R,Hauw JJ,Lyon-Caen O

更新日期：1981-08-01 00:00:00

abstract：:This report describes, for what may be only the second time, a ruptured miliary aneurysm within a cerebral hemorrhage. The report is unique in that the aneurysm has arisen at the site of a dissection within the wall of an arteriole at a site of fibrinoid necrosis. The case not only is a unique illustration of this pat...

journal_title：Annals of neurology

authors： Rosenblum WI

更新日期：2003-09-01 00:00:00

abstract：:An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and a...

journal_title：Annals of neurology

authors： Arts WF,Loonen MC,Sengers RC,Slooff JL

更新日期：1993-05-01 00:00:00

abstract：OBJECTIVE:The cellular and molecular mechanisms underlying magnetic resonance imaging-defined white matter (WM) changes associated with age-related cognitive decline remain poorly defined. We tested the hypothesis that WM lesions in older adults, defined by diffusion tensor imaging (DTI), arise in the setting of vascul...

journal_title：Annals of neurology

authors： Back SA,Kroenke CD,Sherman LS,Lawrence G,Gong X,Taber EN,Sonnen JA,Larson EB,Montine TJ

更新日期：2011-09-01 00:00:00

abstract：:Twenty-six patients with late-stage Parkinson disease were given 0.4 to 15 mg of pergolide mesylate daily in addition to, or as replacement for, levodopa or bromocriptine therapy. Despite treatment with individually determined optimum doses of levodopa, bromocriptine, and anticholinergics, they had shown response fail...

journal_title：Annals of neurology

authors： Lang AE,Quinn N,Brincat S,Marsden CD,Parkes JD

更新日期：1982-09-01 00:00:00

abstract：:Most neurodegenerative disorders are thought to result primarily from the accumulation of misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of diseases, however, noncoding regions of RNAs assume a primary toxic gain-of-function, leading to degeneration in many tissues, including the...

journal_title：Annals of neurology

authors： Todd PK,Paulson HL

更新日期：2010-03-01 00:00:00

abstract：:The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of s...

journal_title：Annals of neurology

authors： Wisniewski KE,Kieras FJ,French JH,Houck GE Jr,Ramos PL

更新日期：1984-07-01 00:00:00

abstract：:A previously healty 43-year-old woman developed bilateral middle cerebral artery occlusion, thrombocytopenia, and multiple thrombi of arteries in the spleen. No underlying cause of her thrombotic disease was detected except for a factor VIII level that was elevated fivefold. An etiological relationship between the cer...

journal_title：Annals of neurology

authors： Kosik KS,Furie B

更新日期：1980-10-01 00:00:00

abstract：:The prevalence of migraine is much greater in female than male individuals. Cortical spreading depression (CSD) is thought to be a fundamental mechanism of migraine, and CSD in rodents is used as a model for migraine. We used optical intrinsic signal imaging and electrophysiological techniques to investigate CSD in C5...

journal_title：Annals of neurology

authors： Brennan KC,Romero Reyes M,López Valdés HE,Arnold AP,Charles AC

更新日期：2007-06-01 00:00:00

abstract：:To establish phenotype-genotype correlations in early-onset parkinsonism, we have compared the phenotype of a large series of 146 patients with and 250 patients without parkin mutations. Although no single sign distinguished the groups, patients with mutations had significantly earlier and more symmetrical onset, dyst...

journal_title：Annals of neurology

authors： Lohmann E,Periquet M,Bonifati V,Wood NW,De Michele G,Bonnet AM,Fraix V,Broussolle E,Horstink MW,Vidailhet M,Verpillat P,Gasser T,Nicholl D,Teive H,Raskin S,Rascol O,Destée A,Ruberg M,Gasparini F,Meco G,Agid Y,Du

更新日期：2003-08-01 00:00:00

abstract：:We report on 3 anti-Hu-positive patients who presented with clinical and electroencephalographic (EEG) features of epilepsia partialis continua (EPC). Two of the patients had an associated small cell carcinoma. Magnetic resonance imaging (MRI) disclosed a hyperintense nonenhancing focal lesion in T2-weighted images in...

journal_title：Annals of neurology

authors： Shavit YB,Graus F,Probst A,Rene R,Steck AJ

更新日期：1999-02-01 00:00:00

abstract：:We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but diffe...

journal_title：Annals of neurology

authors： Scheffer IE,Jones L,Pozzebon M,Howell RA,Saling MM,Berkovic SF

更新日期：1995-10-01 00:00:00

abstract：:Three patients with inferior branch palsies of the oculomotor nerve are described. Two were under 10 years of age and the third was 30 years old at the onset. All 3 presented with painless diplopia. The onset was sudden in 2 patients and progressive in the third. The palsy cleared within a short time in the 2 patients...

journal_title：Annals of neurology

authors： Susac JO,Hoyt WF

更新日期：1977-10-01 00:00:00

abstract：:The cause and pathophysiology of dystonia remain unknown. The recent identification of mitochondrial complex I deficiency in platelets from patients with sporadic focal dystonia suggests that a defect of energy metabolism may be relevant in a proportion of patients. We have addressed the possible contribution of mitoc...

journal_title：Annals of neurology

authors： Tabrizi SJ,Cooper JM,Schapira AH

更新日期：1998-08-01 00:00:00

abstract：:Friedreich's ataxia (FA) is the most frequently inherited ataxia. To test the hypothesis that iron is increased in the cerebellum of patients with FA, we developed a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast. Relaxation rate (R2*) values in the unaf...

journal_title：Annals of neurology

authors： Waldvogel D,van Gelderen P,Hallett M

更新日期：1999-07-01 00:00:00

abstract：:The present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right-handed healthy volunteers were studied by using a 3-T whole-body magnetic resonance unit and echo planar imaging. The tasks consisted of self-paced flexion/e...

journal_title：Annals of neurology

authors： Lehéricy S,van de Moortele PF,Lobel E,Paradis AL,Vidailhet M,Frouin V,Neveu P,Agid Y,Marsault C,Le Bihan D

更新日期：1998-09-01 00:00:00

abstract：:Posterior choroidal artery (PChA) territory infarcts remain the least well-known type of thalamic infarcts. Our study of 10 personal cases, selected from 2,925 stroke patients admitted consecutively to a community-based primary care center, and 10 published cases of unilateral PChA territory infarct suggests that they...

journal_title：Annals of neurology

authors： Neau JP,Bogousslavsky J

更新日期：1996-06-01 00:00:00

abstract：:Fourteen children with brain tumors received endocrine evaluations at least one year following completion of cranial irradiation. Treatment consisted of operation (13 patients), craniospinal irradiation (6), whole brain irradiation (5), posterior fossa irradiation (3), and chemotherapy (10). Endocrine evaluation inclu...

journal_title：Annals of neurology

authors： Duffner PK,Cohen ME,Anderson SW,Voorhess ML,MacGillivray MH,Panahon A,Brecher ML

更新日期：1983-11-01 00:00:00

abstract：:The tyrosine kinase receptor RON and its ligand, macrophage stimulating protein (MSP), exert inhibitory effects on systemic innate immunity, but their CNS expression and impact on human neuroinflammatory diseases are unknown were RON and MSP present in human brain perivascular macrophages and microglia, but RON mRNA a...

journal_title：Annals of neurology

authors： Tsutsui S,Noorbakhsh F,Sullivan A,Henderson AJ,Warren K,Toney-Earley K,Waltz SE,Power C

更新日期：2005-06-01 00:00:00

abstract：:Astrocytic necrosis is a prominent pathological feature of neuromyelitis optica (NMO) lesions and is clinically relevant. We report 5 NMO-related cases, all with longitudinally extensive lesions in the upper cervical cord, who underwent cervical cord (1) H-magnetic resonance spectroscopy. Lower myo-inositol/creatine v...

journal_title：Annals of neurology

authors： Ciccarelli O,Thomas DL,De Vita E,Wheeler-Kingshott CA,Kachramanoglou C,Kapoor R,Leary S,Matthews L,Palace J,Chard D,Miller DH,Toosy AT,Thompson AJ

更新日期：2013-08-01 00:00:00

abstract：:Calmodulin is a major Ca2+ -binding protein that may mediate many Ca2+ -regulated processes in neuronal function. Calmodulin is present in the presynaptic nerve terminal in association with synaptic vesicles and in postsynaptic density fractions. Several calmodulin-regulated synaptic biochemical processes have been id...

journal_title：Annals of neurology

authors： DeLorenzo RJ

更新日期：1984-01-01 00:00:00

abstract：:Cerebrospinal fluid and plasma vasopressin were measured in patients with cerebral disorders associated with varying levels of elevated intracranial pressure. The mean cerebrospinal fluid vasopressin concentration was significantly increased in patients with pseudotumor cerebri (2.0 +/- 0.2 [SEM] pg/ml), intracranial ...

journal_title：Annals of neurology

authors： Sørensen PS,Gjerris F,Hammer M

更新日期：1984-05-01 00:00:00

abstract：:Amyloid plaques in Alzheimer's disease contain beta-amyloid, encoded by portions of exons 16 and 17 of the amyloid precursor protein. The specific association of rare amyloid precursor protein mutations with some kindreds with early-onset familial Alzheimer's disease suggests that specific abnormalities in amyloid pre...

journal_title：Annals of neurology

authors： Peacock ML,Murman DL,Sima AA,Warren JT Jr,Roses AD,Fink JK

更新日期：1994-04-01 00:00:00

abstract：OBJECTIVE:To understand the mechanisms of skeletal muscle destruction and resistance to enzyme replacement therapy in Pompe disease, a deficiency of lysosomal acid alpha-glucosidase (GAA), in which glycogen accumulates in lysosomes primarily in cardiac and skeletal muscles. METHODS:We have analyzed compartments of the...

journal_title：Annals of neurology

authors： Fukuda T,Ewan L,Bauer M,Mattaliano RJ,Zaal K,Ralston E,Plotz PH,Raben N

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to evaluate patients with ganglionic acetylcholine receptor antibody (gAChR-Ab) positive autoimmune autonomic ganglionopathy using a multimodal testing protocol to characterize their full clinical phenotype and explore biomarkers to quantify immunotherapy response. METHODS:We ...

journal_title：Annals of neurology

authors： Koay S,Vichayanrat E,Bremner F,Panicker JN,Lang B,Lunn MP,Watson L,Ingle GT,Hagen EM,McNamara P,Jacobson L,Provitera V,Nolano M,Vincent A,Mathias CJ,Iodice V

更新日期：2021-01-13 00:00:00

abstract：:Focal cortical myoclonus is rare. Obvious causes include tumor or atrophy involving the motor strip, but in some cases no cause is apparent. We present 4 patients who started to have focal myoclonus in childhood. All had focal motor seizures as well, and one had recurrent focal motor status epilepticus. All 4 had a mi...

journal_title：Annals of neurology

authors： Kuzniecky R,Berkovic S,Andermann F,Melanson D,Olivier A,Robitaille Y

更新日期：1988-04-01 00:00:00

abstract：:We report a large family with a temporal partial epilepsy syndrome inherited in an autosomal dominant mode, with a penetrance of about 80%. This epilepsy syndrome is benign, with age of onset in the second or third decade of life. It is characterized by rare partial seizures, usually secondarily generalized, arising m...

journal_title：Annals of neurology

authors： Poza JJ,Sáenz A,Martínez-Gil A,Cheron N,Cobo AM,Urtasun M,Martí-Massó JF,Grid D,Beckmann JS,Prud'homme JF,López de Munain A

更新日期：1999-02-01 00:00:00

abstract：:There are no established treatments for patients with acute, severe neurological deficits caused by multiple sclerosis or other inflammatory demyelinating diseases of the central nervous system who fail to recover after treatment with high-dose corticosteroids. We conducted a randomized, sham-controlled, double-masked...

journal_title：Annals of neurology

authors： Weinshenker BG,O'Brien PC,Petterson TM,Noseworthy JH,Lucchinetti CF,Dodick DW,Pineda AA,Stevens LN,Rodriguez M

更新日期：1999-12-01 00:00:00

abstract：:We performed dynamic [18F]fluorodeoxyglucose ([18F]FDG) positron emission tomographic (PET) analyses in 8 patients. Rate constants of influx (K1*), efflux (k2*), phosphorylation (k3*), and dephosphorylation (k4*) were derived for the regions of interest (ROIs), which included (1) the hypometabolic epileptogenic region...

journal_title：Annals of neurology

authors： Cornford EM,Gee MN,Swartz BE,Mandelkern MA,Blahd WH,Landaw EM,Delgado-Escueta AV

更新日期：1998-06-01 00:00:00