PINK1 mutations are associated with sporadic early-onset parkinsonism.

abstract：:Previous studies using two seizure paradigms, electroconvulsive shock and kindling, suggested potential sites of endogenous thyrotropin-releasing hormone (TRH) action in specific epileptogenic areas. We studied TRH gene expression and TRH receptors in rat limbic areas using the kindling model of epilepsy. Immunoassaya...

journal_title：Annals of neurology

authors： Kubek MJ,Knoblach SM,Sharif NA,Burt DR,Buterbaugh GG,Fuson KS

更新日期：1993-01-01 00:00:00

abstract：:We have conducted a trial to randomly assess the efficacy and tolerance of intravenous immunoglobulin (i.v.Ig) or plasma exchange (PE) in myasthenia gravis (MG) exacerbation and to compare two doses of i.v.Ig. Eighty-seven patients with MG exacerbation were randomized to receive either three PE (n = 41), or i.v.Ig (n ...

journal_title：Annals of neurology

authors： Gajdos P,Chevret S,Clair B,Tranchant C,Chastang C

更新日期：1997-06-01 00:00:00

abstract：:The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (d...

journal_title：Annals of neurology

authors： Dibbens LM,Reid CA,Hodgson B,Thomas EA,Phillips AM,Gazina E,Cromer BA,Clarke AL,Baram TZ,Scheffer IE,Berkovic SF,Petrou S

更新日期：2010-04-01 00:00:00

abstract：:Patients with multiple sclerosis (MS) frequently have selective depletion of the CD45R+CD4+ T-cell subset during active phases of disease. To study the relationship between changes in this subset and the onset of objective clinical exacerbations of disease, a longitudinal study was undertaken. Two CD4+ T-cell subsets ...

journal_title：Annals of neurology

authors： Rose LM,Ginsberg AH,Rothstein TL,Ledbetter JA,Clark EA

更新日期：1988-08-01 00:00:00

abstract：:Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected...

journal_title：Annals of neurology

authors： Shiang R,Ryan SG,Zhu YZ,Fielder TJ,Allen RJ,Fryer A,Yamashita S,O'Connell P,Wasmuth JJ

更新日期：1995-07-01 00:00:00

abstract：:Four patients, aged 7-20 years, suffered from recurrent episodes of flaccid paralysis and encephalopathy associated with bilateral striatal necrosis and chronic progressive polyneuropathy. Using homozygosity mapping, a pathogenic missense mutation in the SLC25A19 gene that encodes the mitochondrial thiamine pyrophosph...

journal_title：Annals of neurology

authors： Spiegel R,Shaag A,Edvardson S,Mandel H,Stepensky P,Shalev SA,Horovitz Y,Pines O,Elpeleg O

更新日期：2009-09-01 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：:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

journal_title：Annals of neurology

authors： Becher MW,Kotzuk JA,Davis LE,Bear DG

更新日期：2000-11-01 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：:Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...

journal_title：Annals of neurology

authors： Batshaw ML

更新日期：1994-02-01 00:00:00

abstract：:Ganaxolone (3alpha-hydroxy-3beta-methyl-5alpha-pregnan-20-one) is a novel neurosteroid which has anticonvulsant properties in a number of seizure models as well as the ability to enhance function of the gamma-aminobutyric acid-A (GABA(A)) receptor complex via a neurosteroid binding site. The object of these experiment...

journal_title：Annals of neurology

authors： Snead OC 3rd

更新日期：1998-10-01 00:00:00

abstract：:Intellectual disability is common and is associated with significant morbidity. Until the latter half of the 20th century, there were no efficacious treatments. Following initial breakthroughs associated with newborn screening and metabolic corrections, little progress was made until recently. With improved understand...

journal_title：Annals of neurology

authors： Picker JD,Walsh CA

更新日期：2013-09-01 00:00:00

abstract：:Detrusor hyperreflexia is a relevant clinical symptom for patients suffering from Parkinson's disease. In a series of 16 patients, we demonstrated that subthalamic deep brain stimulation has a significant and urodynamically recordable effect leading to a normalization of pathologically increased bladder sensibility. ...

journal_title：Annals of neurology

authors： Seif C,Herzog J,van der Horst C,Schrader B,Volkmann J,Deuschl G,Juenemann KP,Braun PM

更新日期：2004-01-01 00:00:00

abstract：:Nineteen patients with radiologically confirmed stroke, and varying degrees of hemiparesis, were studied using somatosensory evoked potentials and the recently developed technique of transcutaneous motor cortex stimulation. The functional deficit caused by stroke was assessed at the time of evoked potential testing an...

journal_title：Annals of neurology

authors： Macdonell RA,Donnan GA,Bladin PF

更新日期：1989-01-01 00:00:00

abstract：:We studied patients with partial and primary generalized seizures using fluorine-18-labeled 2-fluorodeoxyglucose and positron emission tomography. Interictal studies of patients with partial seizures showed regions of focal or lateralized hypometabolism in 15 of 17 patients with unilateral electroencephalographic foci...

journal_title：Annals of neurology

authors： Theodore WH,Brooks R,Sato S,Patronas N,Margolin R,Di Chiro G,Porter RJ

更新日期：1984-01-01 00:00:00

abstract：:Measurement of conduction velocity along the H reflex arc was used to study sensorimotor peripheral nerve function in diabetic patients during short- and long-term improvement of hyperglycemia. In ten type I diabetics a slight (p less than 0.05) conduction increase occurred after 6 hours of normal glycemia induced by ...

journal_title：Annals of neurology

authors： Troni W,Carta Q,Cantello R,Caselle MT,Rainero I

更新日期：1984-08-01 00:00:00

abstract：OBJECTIVE:Infantile spasms are seizures associated with a severe epileptic encephalopathy presenting in the first 2 years of life, and optimal treatment continues to be debated. This study evaluates early and sustained response to initial treatments and addresses both clinical remission and electrographic resolution of...

journal_title：Annals of neurology

authors： Knupp KG,Coryell J,Nickels KC,Ryan N,Leister E,Loddenkemper T,Grinspan Z,Hartman AL,Kossoff EH,Gaillard WD,Mytinger JR,Joshi S,Shellhaas RA,Sullivan J,Dlugos D,Hamikawa L,Berg AT,Millichap J,Nordli DR Jr,Wirrell E,

更新日期：2016-03-01 00:00:00

abstract：:Two family members with hereditary pressure-sensitive neuropathy are reported. One patient presented atypically with acute brachial plexus neuropathy following transaxillary removal of the first rib. Electrophysiological studies showed slowing of motor nerve conduction in clinically affected and unaffected nerves. In ...

journal_title：Annals of neurology

authors： Bosch EP,Chui HC,Martin MA,Cancilla PA

更新日期：1980-12-01 00:00:00

abstract：:We measured the activities of the enzymes responsible for the metabolism of the excitotoxin quinolinic acid, 3-hydroxyanthranilate oxygenase and quinolinic acid phosphoribosyltransferase, in autopsied brain of 11 patients with olivopontocerebellar atrophy. In cerebellar cortex, severe Purkinje cell loss was evident bu...

journal_title：Annals of neurology

authors： Kish SJ,Du F,Parks DA,Robitaille Y,Ball MJ,Schut L,Hornykiewicz O,Schwarcz R

更新日期：1991-01-01 00:00:00

abstract：:We describe a 50-year-old male patient with hyponatremia (serum sodium level, 128 mEq/L) discovered during routine follow-up for Henoch-Schönlein nephritis. The patient was known to have a generalized idiopathic epilepsy and was on 2,000 mg/day of sodium valproate. After exclusion of other causes such as hypothyroidis...

journal_title：Annals of neurology

authors： Branten AJ,Wetzels JF,Weber AM,Koene RA

更新日期：1998-02-01 00:00:00

abstract：:Passive joint position sense was tested in 10 subjects after unilateral total hip replacement surgery (which included capsulectomy). Varied initial limb position, amplitude, and velocity of movement were used. The unoperated side was used as a control. Statistically barely significant errors (p less than 0.025) on the...

journal_title：Annals of neurology

authors： Karanjia PN,Ferguson JH

更新日期：1983-06-01 00:00:00

abstract：OBJECTIVE:The objective of this study was to investigate whether cytosolic phospholipase A2 (cPLA2 ), an important isoform of PLA2 that mediates the release of arachidonic acid, plays a role in the pathogenesis of spinal cord injury (SCI). METHODS:A combination of molecular, histological, immunohistochemical, and beha...

journal_title：Annals of neurology

authors： Liu NK,Deng LX,Zhang YP,Lu QB,Wang XF,Hu JG,Oakes E,Bonventre JV,Shields CB,Xu XM

更新日期：2014-05-01 00:00:00

abstract：OBJECTIVE:Therapeutic drug monitoring (TDM) of antiepileptic drugs (AEDs) is widely established for older generation AEDs, whereas there is limited evidence about newer AEDs. Our aim is to assess the benefit of TDM of newer generation AEDs in epilepsy. METHODS:We performed a randomized, controlled trial comparing syst...

journal_title：Annals of neurology

authors： Aícua-Rapún I,André P,Rossetti AO,Ryvlin P,Hottinger AF,Decosterd LA,Buclin T,Novy J

更新日期：2020-01-01 00:00:00

abstract：:Patients with senile dementia of the Alzheimer type frequently have difficulty performing visual tasks. These difficulties may be due, at least partially, to degenerative changes in both the primary visual pathway and the visual association areas. To determine whether retinal ganglion cell dysfunction contributes to v...

journal_title：Annals of neurology

authors： Trick GL,Barris MC,Bickler-Bluth M

更新日期：1989-08-01 00:00:00

abstract：:The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic cri...

journal_title：Annals of neurology

authors： van Gool WA,Evenhuis HM,van Duijn CM

更新日期：1995-08-01 00:00:00

abstract：:Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...

journal_title：Annals of neurology

authors： Schutzer SE,Rounds MA,Natelson BH,Ecker DJ,Eshoo MW

更新日期：2011-04-01 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:To examine age-related changes in the neural systems for reading in nonimpaired and dyslexic children and adolescents. METHODS:Functional magnetic resonance imaging was used to study age-related changes in the neural systems for reading in a cross-sectional sample of 232 right-handed children 7 to 18 years o...

journal_title：Annals of neurology

authors： Shaywitz BA,Skudlarski P,Holahan JM,Marchione KE,Constable RT,Fulbright RK,Zelterman D,Lacadie C,Shaywitz SE

更新日期：2007-04-01 00:00:00

abstract：OBJECTIVE:Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. METHODS:Patients eva...

journal_title：Annals of neurology

authors： Norcliffe-Kaufmann L,Kaufmann H,Palma JA,Shibao CA,Biaggioni I,Peltier AC,Singer W,Low PA,Goldstein DS,Gibbons CH,Freeman R,Robertson D,Autonomic Disorders Consortium.

更新日期：2018-03-01 00:00:00

abstract：:Latency measurements between three potentials (waves I, III, and IV/V) of the human brainstem auditory response can allow early detection of certain posterior fossa lesions. The diagnostic use of these interwave latencies requires knowledge of what factors may prolong them in the absence of disease. Hypothermia appear...

journal_title：Annals of neurology

authors： Stockard JJ,Sharbrough FW,Tinker JA

更新日期：1978-04-01 00:00:00