Hypothalamic mass and gigantism in neurofibromatosis: treatment with bromocriptine.

abstract：:In a double-blinded, placebo-controlled, crossover study in seven mitochondrial myopathy patients (MM), we investigated whether lowering of lactate with dichloroacetate (DCA) can improve exercise tolerance and oxidative capacity in MM. DCA lowered plasma lactate at rest and during exercise (from 10.5 +/- 2.0 to 5.0 +/...

journal_title：Annals of neurology

authors： Vissing J,Gansted U,Quistorff B

更新日期：2001-05-01 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：:Homocarnosine, a dipeptide of gamma-aminobutyric acid (GABA) and histidine, is thought to be an inhibitory neuromodulator synthesized in subclasses of GABAergic neurons. Homocarnosine is present in human brain in greater amounts (0.4-1.0 micromol/g) than in other animals. The antiepileptic drug vigabatrin increases hu...

journal_title：Annals of neurology

authors： Petroff OA,Mattson RH,Behar KL,Hyder F,Rothman DL

更新日期：1998-12-01 00:00:00

abstract：:We hypothesized that automated assessment of collaterals on computed tomography perfusion can predict the rate of infarct growth during transfer from a primary to a comprehensive stroke center for endovascular stroke treatment. We identified consecutive patients (N = 28) and assessed their collaterals based on the hyp...

journal_title：Annals of neurology

authors： Guenego A,Mlynash M,Christensen S,Kemp S,Heit JJ,Lansberg MG,Albers GW

更新日期：2018-10-01 00:00:00

abstract：:The relationship between extrapyramidal sign (EPS) severity and cognitive function was investigated in 184 patients with idiopathic Parkinson's disease (PD) and 301 normal elderly individuals from a community-dwelling cohort in northern Manhattan, New York City. Fifty-six of the patients with PD met criteria for demen...

journal_title：Annals of neurology

authors： Richards M,Stern Y,Marder K,Cote L,Mayeux R

更新日期：1993-03-01 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：:A patient with recessive generalized congenital myotonia and severe, disabling weakness underwent various forms of treatment while being monitored electrophysiologically. Phenytoin, verapamil, and acetazolamide were ineffective, but tocainide yielded good results. Improvement was dose-dependent, and was limited by irr...

journal_title：Annals of neurology

authors： Streib EW

更新日期：1986-05-01 00:00:00

abstract：:The seemingly unpredictable response to levodopa in patients with Parkinson's disease can be understood as an interaction between several distinct pharmacological effects of levodopa. The most important are a short-duration response with a half-life of minutes to hours and a long-duration response with a half-life of ...

journal_title：Annals of neurology

authors： Nutt JG,Holford NH

更新日期：1996-05-01 00:00:00

abstract：:Emotional blunting can be found after cerebellar lesions. However, the mechanism of such a modification is not clear. We present a patient with emotional flattening and increased risk taking after left cerebellar infarct who had an impaired autonomic reactivity to negative as compared with positive reinforcement. This...

journal_title：Annals of neurology

authors： Annoni JM,Ptak R,Caldara-Schnetzer AS,Khateb A,Pollermann BZ

更新日期：2003-05-01 00:00:00

abstract：:Fifty children with marked neurological abnormality manifested by moderate or severe motor disability and severe mental retardation were compared with a large control population with respect to prospectively ascertained perinatal characteristics. None of 60 prenatal factors distinguished the affected group from contro...

journal_title：Annals of neurology

authors： Nelson KB,Broman SH

更新日期：1977-11-01 00:00:00

abstract：:To determine whether the association of the very low density lipoprotein receptor (VLDL-R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we have investigated the allele frequency of the polymorphic CGG re...

journal_title：Annals of neurology

authors： Okuizumi K,Onodera O,Seki K,Tanaka H,Namba Y,Ikeda K,Saunders AM,Pericak-Vance MA,Roses AD,Tsuji S

更新日期：1996-08-01 00:00:00

abstract：:Paired-helical filaments (PHFs) are an important diagnostic criterion of the inclusion-body myositis (IBM) muscle biopsy; but, until now, their presence could be identified only by electronmicroscopy. In this report, we describe an easy immunocytochemical procedure, utilizing commercially available antibody, that enab...

journal_title：Annals of neurology

authors： Askanas V,Alvarez RB,Mirabella M,Engel WK

更新日期：1996-03-01 00:00:00

abstract：:Creutzfeldt-Jakob disease (CJD) is a rare dementia that is generally found in older people and is caused by unusual infectious pathogens or prions. Using rabbit antisera raised against hamster scrapie prion proteins (HaPrPSc), we identified by immunoblotting human CJD prion proteins (HuPrPCJD) in the brains of 14 pati...

journal_title：Annals of neurology

authors： Bockman JM,Prusiner SB,Tateishi J,Kingsbury DT

更新日期：1987-06-01 00:00:00

abstract：:Fresh brain weight, gestational age, body weight, sex, and race were collected from autopsy records of 782 newborns over a 10-year period. The brain weight of the mature newborn does not differ between males and females or between white and black infants. For the premature, however, brain weight is heavier in white ma...

journal_title：Annals of neurology

authors： Ho KC,Roessmann U,Hause L,Monroe G

更新日期：1981-09-01 00:00:00

abstract：:The current functional model of the basal ganglia suggests that dyskinesia results from abnormally low activity at the output of the system. This view appears incomplete. The recent literature suggests other factors. Thus, dyskinesia may result from disturbance of surround inhibition: a physiologic mechanism to select...

journal_title：Annals of neurology

authors： Filion M

更新日期：2000-04-01 00:00:00

abstract：:Chronic progressive myelopathy (CPM) is a difficult clinical problem. Many patients who present with CPM turn out to have a spinal form of multiple sclerosis (MS), but until there is clear lesion dissemination, a definite clinical diagnosis cannot be made. We have looked for MS-related abnormalities in 72 patients wit...

journal_title：Annals of neurology

authors： Paty DW,Blume WT,Brown WF,Jaatoul N,Kertesz A,McInnis W

更新日期：1979-11-01 00:00:00

abstract：OBJECTIVE:Determine the probability of attaining complete remission in children with nonsyndromic epilepsy (NSE) over the course of ≥10 years from initial diagnosis; identify early predictors of complete remission; and assess the risk of relapse after achieving complete remission. METHODS:In a prospective community-ba...

journal_title：Annals of neurology

authors： Berg AT,Testa FM,Levy SR

更新日期：2011-10-01 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：OBJECTIVE:The study was undertaken to determine whether normobaric hypoxia causes elevated brain volume and intracranial pressure in individuals with symptoms consistent with acute mountain sickness (AMS). METHODS:Thirteen males age = (26 (sd 6)) years were exposed to normobaric hypoxia (12% O2 ) and normoxia (21% O2 ...

journal_title：Annals of neurology

authors： Lawley JS,Alperin N,Bagci AM,Lee SH,Mullins PG,Oliver SJ,Macdonald JH

更新日期：2014-06-01 00:00:00

abstract：:Previous studies have indicated increased immunoreactivity of the endogenous opioid peptide beta-endorphin in the cerebrospinal fluid (CSF) of infants under 2 years of age with apnea. To assess the role of endogenous opioids in the pathogenesis of apnea in children, the effect of oral treatment with the opioid antagon...

journal_title：Annals of neurology

authors： Myer EC,Morris DL,Brase DA,Dewey WL,Zimmerman AW

更新日期：1990-01-01 00:00:00

abstract：:The characteristic pathological features of Huntington's disease (HD) are neostriatal atrophy and neuronal loss. Although neuroradiological studies often show caudate atrophy in patients with moderate HD, frequently no caudate atrophy is found early in the illness. There have been no quantitative reports to date on in...

journal_title：Annals of neurology

authors： Harris GJ,Pearlson GD,Peyser CE,Aylward EH,Roberts J,Barta PE,Chase GA,Folstein SE

更新日期：1992-01-01 00:00:00

abstract：:In 9 patients with progressive supranuclear palsy and in 27 controls, dopamine and homovanillic acid concentrations, choline acetyltransferase (CAT) activity, and the number of [3H]spiperone and [3H]quinuclidinyl benzilate binding sites were measured post mortem in the striatum (caudate nucleus, putamen, and nucleus a...

journal_title：Annals of neurology

authors： Ruberg M,Javoy-Agid F,Hirsch E,Scatton B,LHeureux R,Hauw JJ,Duyckaerts C,Gray F,Morel-Maroger A,Rascol A

更新日期：1985-11-01 00:00:00

abstract：:Fifteen drug-free patients with early to midstage Huntington's disease were evaluated with quantitative neurological examinations, scales for functional capacity, computed tomographic (CT) scans, and positron emission tomographic (PET) scans of 18F-2-fluoro-2-deoxyglucose (18F-FDG) uptake. All patients had abnormal in...

journal_title：Annals of neurology

authors： Young AB,Penney JB,Starosta-Rubinstein S,Markel DS,Berent S,Giordani B,Ehrenkaufer R,Jewett D,Hichwa R

更新日期：1986-09-01 00:00:00

abstract：:We investigated a family with a new type of autosomal dominant cerebellar ataxia (ADCA) in which pure cerebellar ataxia is often accompanied with epilepsy. No CAG repeat expansions were detected at the spinocerebellar ataxia (SCA) type 1, 2, 3, 6, or 7 locus, and SCAs 4 and 5 were excluded by linkage analysis. We foun...

journal_title：Annals of neurology

authors： Matsuura T,Achari M,Khajavi M,Bachinski LL,Zoghbi HY,Ashizawa T

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis/parkinsonism-dementia complex has been described in Guam, Western Papua, and the Kii Peninsula of Japan. The etiology and pathogenesis of this complex neurodegenerative disease remains enigmatic. METHODS:In this study, we have used targeted genomic sequencing to evaluate the con...

journal_title：Annals of neurology

authors： Steele JC,Guella I,Szu-Tu C,Lin MK,Thompson C,Evans DM,Sherman HE,Vilariño-Güell C,Gwinn K,Morris H,Dickson DW,Farrer MJ

更新日期：2015-03-01 00:00:00

abstract：OBJECTIVE:Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS:Over the past 9 years, we have enrolled and studied a cohort of...

journal_title：Annals of neurology

authors： Hu B,McCollum M,Ravi V,Arpag S,Moiseev D,Castoro R,Mobley B,Burnette B,Siskind C,Day J,Yawn R,Feely S,Li Y,Yan Q,Shy M,Li J

更新日期：2018-04-01 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：OBJECTIVE:A number of hypotheses have been put forward as to why humans respond to fever by seizing. The current leading hypotheses are that respiratory alkalosis produces an as yet unidentified change in neural excitability or that inflammatory mediators potentiate excitatory synaptic transmission. However, it is well...

journal_title：Annals of neurology

authors： Thomas EA,Hawkins RJ,Richards KL,Xu R,Gazina EV,Petrou S

更新日期：2009-08-01 00:00:00

abstract：OBJECTIVE:Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutation...

journal_title：Annals of neurology

authors： Carelli V,Musumeci O,Caporali L,Zanna C,La Morgia C,Del Dotto V,Porcelli AM,Rugolo M,Valentino ML,Iommarini L,Maresca A,Barboni P,Carbonelli M,Trombetta C,Valente EM,Patergnani S,Giorgi C,Pinton P,Rizzo G,Tonon C,

更新日期：2015-07-01 00:00:00

abstract：OBJECTIVE:Although electrophysiologic dysfunction of the subthalamic nucleus is putative, deep brain stimulation of this structure has recently been reported to improve obsessions and compulsions. In Parkinson disease, sensorimotor subthalamic neurons display high-frequency burst firing, which is considered as an elect...

journal_title：Annals of neurology

authors： Piallat B,Polosan M,Fraix V,Goetz L,David O,Fenoy A,Torres N,Quesada JL,Seigneuret E,Pollak P,Krack P,Bougerol T,Benabid AL,Chabardès S

更新日期：2011-05-01 00:00:00