RNA-mediated neurodegeneration in repeat expansion disorders.

abstract：:A 13-year-old boy with imipramine overdose developed seizures, respiratory arrest, and coma. Abnormalities of oculovestibular reflexes, electroencephalograms, and brainstem auditory evoked potentials were monitored in relation to measurements of drug levels. An alpha-coma electroencephalographic pattern evolved into o...

journal_title：Annals of neurology

authors： Pulst SM,Lombroso CT

更新日期：1983-11-01 00:00:00

abstract：:We report on a 28-year-old man with long-standing intractable complex partial and secondary generalized seizures, whose magnetic resonance imaging scans 4 years apart documented progressive decrease in the left hippocampal volume. Left anterior temporal lobectomy with amygdalohippocampectomy rendered the patient seizu...

journal_title：Annals of neurology

authors： O'Brien TJ,So EL,Meyer FB,Parisi JE,Jack CR

更新日期：1999-04-01 00:00:00

abstract：OBJECTIVE:Cognitive impairment is common in epilepsy, particularly in memory function. Interictal spikes (IISs) are thought to disrupt cognition, but it is difficult to delineate their contribution from general impairments in memory produced by etiology and seizures. We investigated the transient impact of focal IISs o...

journal_title：Annals of neurology

authors： Kleen JK,Scott RC,Holmes GL,Lenck-Santini PP

更新日期：2010-02-01 00:00:00

abstract：OBJECTIVE:To assess risk factors associated with care for stroke symptoms. METHODS:Using data from the population-based national cohort study (REasons for Geographic And Racial Differences in Stroke) conducted January 25, 2003-February 28, 2007 (N = 23,664), we assessed care-seeking behavior among 3,668 participants w...

journal_title：Annals of neurology

authors： Howard VJ,Lackland DT,Lichtman JH,McClure LA,Howard G,Wagner L,Pulley L,Gomez CR

更新日期：2008-04-01 00:00:00

abstract：:We registered 366 families in a study of dominantly inherited amyotrophic lateral sclerosis. Two hundred ninety families were screened for mutations in the gene encoding copper-zinc cytosolic superoxide dismutase (SOD1). Mutations were detected in 68 families. The most common SOD1 mutation is an alanine for valine sub...

journal_title：Annals of neurology

authors： Cudkowicz ME,McKenna-Yasek D,Sapp PE,Chin W,Geller B,Hayden DL,Schoenfeld DA,Hosler BA,Horvitz HR,Brown RH

更新日期：1997-02-01 00:00:00

abstract：:Huntington's disease is a genetic disorder that causes motor dysfunction, personality changes, dementia, and premature death. There is currently no effective therapy. Several transgenic models of Huntington's disease are available, the most widely used of which is the R6/2 mouse, because of its rapid disease progressi...

journal_title：Annals of neurology

authors： Hockly E,Cordery PM,Woodman B,Mahal A,van Dellen A,Blakemore C,Lewis CM,Hannan AJ,Bates GP

更新日期：2002-02-01 00:00:00

abstract：:Autosomal dominant spinocerebellar ataxias (SCAs) are clinically and genetically a heterogeneous group of neurodegenerative disorders. Recently, mild CAG repeat expansion in the alpha1A voltage-dependent calcium channel gene has been found to be associated with a type of autosomal dominant SCA (SCA6). We analyzed 98 J...

journal_title：Annals of neurology

authors： Ikeuchi T,Takano H,Koide R,Horikawa Y,Honma Y,Onishi Y,Igarashi S,Tanaka H,Nakao N,Sahashi K,Tsukagoshi H,Inoue K,Takahashi H,Tsuji S

更新日期：1997-12-01 00:00:00

abstract：OBJECTIVE:Mutations of the selenoprotein N gene (SEPN1) cause SEPN1-related myopathy (SEPN1-RM), a novel early-onset muscle disorder formerly divided into four different nosological categories. Selenoprotein N (SelN) is the only selenoprotein involved in a genetic disease; its function being unknown, no treatment is av...

journal_title：Annals of neurology

authors： Arbogast S,Beuvin M,Fraysse B,Zhou H,Muntoni F,Ferreiro A

更新日期：2009-06-01 00:00:00

abstract：:We report early-onset parkinsonism and dementia of 18 years' duration in a 52-year-old man whose grandfather and father had suffered from a similar neurological disease. In this patient, we found neuronal loss in various brain regions including the substantia nigra and cerebral cortex, Lewy bodies, cotton wool plaques...

journal_title：Annals of neurology

authors： Ishikawa A,Piao YS,Miyashita A,Kuwano R,Onodera O,Ohtake H,Suzuki M,Nishizawa M,Takahashi H

更新日期：2005-03-01 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

authors： Freedman M,Armstrong RM,Killian JM,Boland D

更新日期：1986-11-01 00:00:00

abstract：:A 51-year-old diabetic woman developed bilateral rhinoorbitocerebral phycomycosis. Successful treatment was accomplished by correction of the ketoacidosis, surgical debridement, and amphotericin B therapy. Rhinoorbitocerebral phycomycosis is a fulminant and frequently fatal disease most often seen in debilitated hosts...

journal_title：Annals of neurology

authors： Kasper LH,Bernat JL,Nordgren RE,Reeves AG

更新日期：1979-08-01 00:00:00

abstract：:Chronic measles virus infection of the brain causes subacute sclerosing panencephalitis (SSPE), a progressive, relentless fatal disorder. We report a 52-year-old male who developed focal, chronic persistent measles virus infection of the brain following interferon and ribavirin therapy for hepatitis C, and who respond...

journal_title：Annals of neurology

authors： Steiner I,Livneh V,Hoffmann C,Nass D,Mor O,Chapman J

更新日期：2014-06-01 00:00:00

abstract：:The topography and magnitude of increase in peripheral type benzodiazepine binding sites (omega 3 sites) was investigated autoradiographically in the brains of patients with ischemic cerebrovascular disease, with multiple sclerosis, and with malignant glioma. 3H-PK 11195, a selective omega 3 site ligand, was employed....

journal_title：Annals of neurology

authors： Benavides J,Cornu P,Dennis T,Dubois A,Hauw JJ,MacKenzie ET,Sazdovitch V,Scatton B

更新日期：1988-12-01 00:00:00

abstract：:A 51-year-old man presented with a six-year history of gradually progressive exertional dyspnea. His complaint was attributed to increasing age, but evaluation finally led to a diagnosis of diaphragmatic paralysis. Neurological examination disclosed only minimal evidence of weakness of limb muscles. Electromyographic ...

journal_title：Annals of neurology

authors： Sivak ED,Salanga VD,Wilbourn AJ,Mitsumoto H,Golish J

更新日期：1981-06-01 00:00:00

abstract：OBJECTIVE:Multiple Sclerosis (MS) is an inflammatory demyelinating disease of the human central nervous system. Although the clinical impact of gray matter pathology in MS brains is unknown, 30 to 40% of MS patients demonstrate memory impairment. The molecular basis of this memory dysfunction has not yet been investiga...

journal_title：Annals of neurology

authors： Dutta R,Chang A,Doud MK,Kidd GJ,Ribaudo MV,Young EA,Fox RJ,Staugaitis SM,Trapp BD

更新日期：2011-03-01 00:00:00

abstract：:Localized water-suppressed 1H magnetic resonance spectroscopy was performed in an 11-month-old infant with Leigh syndrome. Spectra obtained from the basal ganglia, occipital cortex, and brainstem showed elevations in lactate, which were most pronounced in regions where abnormalities were seen with routine T2-weighted ...

journal_title：Annals of neurology

authors： Detre JA,Wang ZY,Bogdan AR,Gusnard DA,Bay CA,Bingham PM,Zimmerman RA

更新日期：1991-02-01 00:00:00

abstract：:Although interictal spikes are thought to share pathophysiological mechanisms with partial-onset seizure discharges, positron emission tomographic studies of the interictal state have paradoxically shown focal hypometabolism whereas seizures produce hypermetabolism. To address this question, we performed functional ma...

journal_title：Annals of neurology

authors： Handforth A,Finch DM,Peters R,Tan AM,Treiman DM

更新日期：1994-06-01 00:00:00

abstract：OBJECTIVE:Guillain-Barré syndrome (GBS) is an acute postinfectious immune-mediated polyneuropathy. Although preceding respiratory tract infections with Mycoplasma pneumoniae have been reported in some cases, the role of M. pneumoniae in the pathogenesis of GBS remains unclear. We here cultured, for the first time, M. p...

journal_title：Annals of neurology

authors： Meyer Sauteur PM,Huizinga R,Tio-Gillen AP,Roodbol J,Hoogenboezem T,Jacobs E,van Rijn M,van der Eijk AA,Vink C,de Wit MC,van Rossum AM,Jacobs BC

更新日期：2016-10-01 00:00:00

abstract：:Multiple sclerosis (MS) has been associated with HLA-DR2 for more than 20 years, and a large number of studies have addressed the relation between MS and the HLA class II genes, which are our major immune-response genes. This has produced a complex and confusing picture that is difficult to interpret. With the advent ...

journal_title：Annals of neurology

authors： Hillert J

更新日期：1994-01-01 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：: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：:Urinary urgency and frequency are common in α-synucleinopathies such as Parkinson disease, Lewy body dementia, and multiple system atrophy. These symptoms cannot be managed with dopamine therapy, and their underlying pathophysiology is unclear. We show that in individuals with Parkinson disease, Lewy body dementia, or...

journal_title：Annals of neurology

authors： VanderHorst VG,Samardzic T,Saper CB,Anderson MP,Nag S,Schneider JA,Bennett DA,Buchman AS

更新日期：2015-07-01 00:00:00

abstract：:Dichloroacetate (DCA) stimulates pyruvate dehydrogenase complex (PDHC) activity and lowers cerebral lactate concentrations. In the R6/2 and N171-82Q transgenic mouse models of Huntington's disease (HD), DCA significantly increased survival, improved motor function, delayed loss of body weight, attenuated the developme...

journal_title：Annals of neurology

authors： Andreassen OA,Ferrante RJ,Huang HM,Dedeoglu A,Park L,Ferrante KL,Kwon J,Borchelt DR,Ross CA,Gibson GE,Beal MF

更新日期：2001-07-01 00:00:00

abstract：OBJECTIVE:Limited evidence is available to guide treatment of depression for persons with epilepsy. We evaluated the comparative effectiveness of sertraline and cognitive behavior therapy (CBT) for depression, quality of life, seizures, and adverse treatment effects. METHODS:We randomly assigned 140 adult outpatients ...

journal_title：Annals of neurology

authors： Gilliam FG,Black KJ,Carter J,Freedland KE,Sheline YI,Tsai WY,Lustman PJ

更新日期：2019-10-01 00:00:00

abstract：:Interpretation of biochemical measurements in the human brain after death is complicated by a variety of premortem, perimortem, and postmortem factors. The activity of glutamic acid decarboxylase (GAD) in particular has been found to vary considerably among human brains. In contrast to neurotransmitter-associated enzy...

journal_title：Annals of neurology

authors： Maker HS,Weiss C,Weissbarth S,Silides DJ,Whetsell W

更新日期：1981-10-01 00:00:00

abstract：OBJECTIVE:The relationship between genetic variation in the T-type calcium channel gene CACNA1H and childhood absence epilepsy is well established. The purpose of this study was to investigate the range of epilepsy syndromes for which CACNA1H variants may contribute to the genetic susceptibility architecture and determ...

journal_title：Annals of neurology

authors： Heron SE,Khosravani H,Varela D,Bladen C,Williams TC,Newman MR,Scheffer IE,Berkovic SF,Mulley JC,Zamponi GW

更新日期：2007-12-01 00:00:00

abstract：:Four guanidino compounds that have been found to be markedly increased in cerebrospinal fluid and brain tissue of uremic patients, namely, guanidine, methylguanidine, creatinine, and guanidinosuccinic acid, were applied to mouse spinal cord neurons in primary dissociated cell culture to evaluate their effects on posts...

journal_title：Annals of neurology

authors： De Deyn PP,Macdonald RL

更新日期：1990-11-01 00:00:00

abstract：:We describe a new cause of spinal cord ischemia illustrated by two cases--compression by the diaphragmatic crus of a lumbar artery giving rise to a spinal artery. The diagnosis has been established by dynamic spinal angiography, showing complete occlusion of the lumbar artery. Surgical section of the diaphragmatic cru...

journal_title：Annals of neurology

authors： Rogopoulos A,Benchimol D,Paquis P,Mahagne MH,Bourgeon A

更新日期：2000-08-01 00:00:00

abstract：OBJECTIVE:The discovery of a posture-dependent effect on the difference between intraocular pressure (IOP) and intracranial pressure (ICP) at the level of lamina cribrosa could have important implications for understanding glaucoma and idiopathic intracranial hypertension and could help explain visual impairments in as...

journal_title：Annals of neurology

authors： Eklund A,Jóhannesson G,Johansson E,Holmlund P,Qvarlander S,Ambarki K,Wåhlin A,Koskinen LO,Malm J

更新日期：2016-08-01 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