Absences in juvenile myoclonic epilepsy: a clinical and video-electroencephalographic study.

abstract：:By most measures, academic neurology is thriving as never before, yet convening forces are changing the face of academic neurology. This report focuses on changes that academic neurology and the American Neurological Association could undertake to seize new opportunities and resist damaging potential changes. These pr...

journal_title：Annals of neurology

authors： Griffin JW,Griggs RC,Barchi R,Schneck SA,Moses H 3rd

更新日期：1996-06-01 00:00:00

abstract：:The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demonstrate anisotropy in the corticospinal tracts of the basis pontis in...

journal_title：Annals of neurology

authors： Graf WD,Born DE,Shaw DW,Thomas JR,Holloway LW,Michaelis RC

更新日期：2000-01-01 00:00:00

abstract：:Glucose metabolism is depressed in the temporal and parietal regions of the cortex in patients with Alzheimer's disease. We measured the concentrations of two glucose transporters, GLUT1 and GLUT3, in six regions of brains from both control subjects and patients with Alzheimer's disease. The concentrations of both tra...

journal_title：Annals of neurology

authors： Simpson IA,Chundu KR,Davies-Hill T,Honer WG,Davies P

更新日期：1994-05-01 00:00:00

abstract：:Ross River virus (strain T48) infection in mice causes an encephalomyelitis characterized by focal, primary demyelination in the cerebellum, brain stem, and spinal cord. Maximal serum and brain content of virus occurs on days 2 and 4, respectively. Virus is not detectable in serum after day 3 or in brain after day 9. ...

journal_title：Annals of neurology

authors： Seay AR,Wolinsky JS

更新日期：1982-10-01 00:00:00

abstract：:A nested polymerase chain reaction was used for the detection of Epstein-Barr virus DNA in 1 patient with encephalitis, and in 1 patient with myelitis. Epstein-Barr virus DNA was detected in cerebrospinal fluid samples obtained at the onset of neurological symptoms in both patients, and serological findings indicated ...

journal_title：Annals of neurology

authors： Landgren M,Kyllerman M,Bergström T,Dotevall L,Ljungström L,Ricksten A

更新日期：1994-05-01 00:00:00

abstract：:Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin. Despite the characterization of the IT15 gene and the mutation involved in the disease, the normal function of huntin...

journal_title：Annals of neurology

authors： Gourfinkel-An I,Cancel G,Trottier Y,Devys D,Tora L,Lutz Y,Imbert G,Saudou F,Stevanin G,Agid Y,Brice A,Mandel JL,Hirsch EC

更新日期：1997-11-01 00:00:00

abstract：:A subset of human immunodeficiency virus (HIV)-infected patients develop persistent CD8 hyperlymphocytosis and a Sjogren's syndrome-like syndrome associated with multivisceral CD8 T-cell infiltration, known as the diffuse infiltrative lymphocytosis syndrome (DILS). Patients with DILS tend to have higher CD4 cell count...

journal_title：Annals of neurology

authors： Moulignier A,Authier FJ,Baudrimont M,Pialoux G,Belec L,Polivka M,Clair B,Gray F,Mikol J,Gherardi RK

更新日期：1997-04-01 00:00:00

abstract：:A prospective study of 162 patients with adult-onset chronic epilepsy revealed 4 in whom computed tomographic scanning was the only diagnostic test that detected the presence of a surgically correctable cerebral lesion. These patients had suffered from seizures for 1 to 14 years and at the time of operation demonstrat...

journal_title：Annals of neurology

authors： Jabbari B,Huott AD,Di Chiro G,Martins AN,Youngblood LA,Harper MG

更新日期：1980-04-01 00:00:00

abstract：:Epilepsy is a disease of recurrent seizures that can develop after a wide range of brain insults. Although surgical resection of focal regions of seizure onset can result in clinical improvement, the molecular mechanisms that produce and maintain focal hyperexcitability are not understood. Here, we demonstrate a regio...

journal_title：Annals of neurology

authors： Rakhade SN,Yao B,Ahmed S,Asano E,Beaumont TL,Shah AK,Draghici S,Krauss R,Chugani HT,Sood S,Loeb JA

更新日期：2005-11-01 00:00:00

abstract：:The need for novel, efficacious, antiseizure therapies is widely acknowledged. This study investigates in humans the feasibility, safety, and efficacy of high-frequency electrical stimulation (HFES; 100-500 Hz) triggered by automated seizure detections. Eight patients were enrolled in this study, which consisted of a ...

journal_title：Annals of neurology

authors： Osorio I,Frei MG,Sunderam S,Giftakis J,Bhavaraju NC,Schaffner SF,Wilkinson SB

更新日期：2005-02-01 00:00:00

abstract：:In view of the favorable claims of Cook and others, an open trial of chronic dorsal column stimulation was undertaken in 9 patients who had moderately advanced multiple sclerosis (MS) but were still ambulatory. No objective improvement was noted by either author during the postoperative observation period of 6 to 37 m...

journal_title：Annals of neurology

authors： Rosen JA,Barsoum AH

更新日期：1979-07-01 00:00:00

abstract：:The functional status of the globus pallidus internal segment (GPi) plays a key role in mediating the effects of antiparkinsonian drugs. During long-term levodopa therapy, patients develop abnormal movements, dyskinesias, the pathophysiological basis of which is poorly understood. We recorded single cells in the GPi o...

journal_title：Annals of neurology

authors： Papa SM,Desimone R,Fiorani M,Oldfield EH

更新日期：1999-11-01 00:00:00

abstract：:Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...

journal_title：Annals of neurology

authors： Bertram L,Guénette S,Jones J,Keeney D,Mullin K,Crystal A,Basu S,Yhu S,Deng A,Rebeck GW,Hyman BT,Go R,McInnis M,Blacker D,Tanzi R

更新日期：2001-01-01 00:00:00

abstract：OBJECTIVE:Huntington disease (HD) is an inherited neurodegenerative disease caused by the mutant huntingtin gene (mHTT), which harbors expanded CAG repeats. We previously reported that the brain vessel density is higher in mice and patients with HD than in controls. The present study determines whether vascular functio...

journal_title：Annals of neurology

authors： Hsiao HY,Chen YC,Huang CH,Chen CC,Hsu YH,Chen HM,Chiu FL,Kuo HC,Chang C,Chern Y

更新日期：2015-08-01 00:00:00

abstract：OBJECTIVE:Pituitary dysfunction is a recognized consequence of traumatic brain injury (TBI) that causes cognitive, psychological, and metabolic impairment. Hormone replacement offers a therapeutic opportunity. Blast TBI (bTBI) from improvised explosive devices is commonly seen in soldiers returning from recent conflict...

journal_title：Annals of neurology

authors： Baxter D,Sharp DJ,Feeney C,Papadopoulou D,Ham TE,Jilka S,Hellyer PJ,Patel MC,Bennett AN,Mistlin A,McGilloway E,Midwinter M,Goldstone AP

更新日期：2013-10-01 00:00:00

abstract：:Parkinson's disease evolves slowly, and there is current interest in exploring the earliest stages of the disorder, because of new approaches to studying pathogenesis and developing potential neuroprotective treatment. Recognizing early Parkinson's disease is not easy. The certainty of diagnosis increases as the disea...

journal_title：Annals of neurology

authors： Calne DB,Snow BJ,Lee C

更新日期：1992-01-01 00:00:00

abstract：:Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7-month-old male infant who underwent several metabolic studies before death. Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total...

journal_title：Annals of neurology

authors： DeVivo DC,Haymond MW,Obert KA,Nelson JS,Pagliara AS

更新日期：1979-12-01 00:00:00

abstract：:Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...

journal_title：Annals of neurology

authors： Dugan LL,Choi DW

更新日期：1994-01-01 00:00:00

abstract：:We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesse...

journal_title：Annals of neurology

authors： Little BW,Brown PW,Rodgers-Johnson P,Perl DP,Gajdusek DC

更新日期：1986-08-01 00:00:00

abstract：OBJECTIVE:Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. We evaluated corneal confocal microscopy (CCM) quantification of corneal ...

journal_title：Annals of neurology

authors： Pagovich OE,Vo ML,Zhao ZZ,Petropoulos IN,Yuan M,Lertsuwanroj B,Ciralsky J,Lai E,Kiss S,D'Amico DJ,Mezey JG,Malik RA,Crystal RG

更新日期：2018-12-01 00:00:00

abstract：:Two families with a point mutation in mtDNA associated with myoclonic epilepsy and ragged-red fiber disease showed pronounced clinical heterogeneity. The mothers of the two families had adult-onset myopathy with ragged-red fibers, partial deficiency of cytochrome c oxidase, and sensory neuropathy. Members of the first...

journal_title：Annals of neurology

authors： Graf WD,Sumi SM,Copass MK,Ojemann LM,Longstreth WT Jr,Shanske S,Lombes A,DiMauro S

更新日期：1993-06-01 00:00:00

abstract：:Hereditary canine spinal muscular atrophy (HCSMA) features rapidly progressive muscle weakness that affects muscles in an apparent proximal-to-distal gradient. In the medial gastrocnemius (MG) muscle of homozygous HCSMA animals, motor unit tetanic failure is apparent before the appearance of muscle weakness and appear...

journal_title：Annals of neurology

authors： Balice-Gordon RJ,Smith DB,Goldman J,Cork LC,Shirley A,Cope TC,Pinter MJ

更新日期：2000-05-01 00:00:00

abstract：:Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n...

journal_title：Annals of neurology

authors： Smelt AH,Poorthuis BJ,Onkenhout W,Scholte HR,Andresen BS,van Duinen SG,Gregersen N,Wintzen AR

更新日期：1998-04-01 00:00:00

abstract：OBJECTIVE:Mixed pathologies are common in older persons with dementia. Little is known about mixed pathologies in probable Alzheimer disease (AD) and about the spectrum of neuropathology in mild cognitive impairment (MCI). The objective of this study was to investigate single and mixed common age-related neuropathologi...

journal_title：Annals of neurology

authors： Schneider JA,Arvanitakis Z,Leurgans SE,Bennett DA

更新日期：2009-08-01 00:00:00

abstract：:Human immunodeficiency viruses from the brain can be distinguished from peripheral blood isolates by their ability to infect established human cell lines and their sensitivity to serum neutralization. Isolates from the brain and lymph nodes obtained from the same person displayed similar host range tropism and suscept...

journal_title：Annals of neurology

authors： Cheng-Mayer C,Levy JA

更新日期：1988-01-01 00:00:00

abstract：:We have developed a radioimmunoassay to measure a specific neurological component, the basic protein of myelin, and have used this test for assessing this component in spinal fluid. The levels of basic protein in spinal fluid correlate closely with the clinical activity of multiple sclerosis; therefore the test can be...

journal_title：Annals of neurology

authors： Cohen SR,Brooks BR,Herndon RM,McKhann GM

更新日期：1980-07-01 00:00:00

abstract：:A 10-year-old boy developed progressive dystonia and dementia. His symptoms had begun at age 2 1/2 years, and he had been unable to walk by 8 years. At age 10 he was severely dystonic, unable to use his hands to feed himself, and almost anarthric . He had dysphagia and urinary incontinence, and functioned at a 4-year-...

journal_title：Annals of neurology

authors： Meek D,Wolfe LS,Andermann E,Andermann F

更新日期：1984-04-01 00:00:00

abstract：:D2 dopamine receptor densities were measured in postmortem samples of the caudate nucleus and putamen from 36 parkinsonian patients. The relationship between the age of the patient, duration of the disease, and duration of L-dopa therapy versus density of brain D2 dopamine receptors was examined using [3H]spiperone. R...

journal_title：Annals of neurology

authors： Guttman M,Seeman P,Reynolds GP,Riederer P,Jellinger K,Tourtellotte WW

更新日期：1986-05-01 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:Neonatal white matter injury (NWMI) is a lesion found in preterm infants that can lead to cerebral palsy. Although antagonists of bone morphogenetic protein (BMP) signaling, such as Noggin, promote oligodendrocyte precursor cell (OPC) production after hypoxic-ischemic (HI) injury, the downstream functional ta...

journal_title：Annals of neurology

authors： Sabo JK,Heine V,Silbereis JC,Schirmer L,Levison SW,Rowitch DH

更新日期：2017-04-01 00:00:00