Physiological studies of spinal inhibitory pathways in patients with hereditary hyperekplexia.

Abstract:

:Because hereditary hyperekplexia results from a defect in the glycine receptor, we studied in five patients several spinal inhibitory pathways that are thought to use either glycine or gamma-aminobutyric acid as a neurotransmitter. Three patients had a mutation in the alpha1 subunit of the glycine receptor, whereas two sisters with the same clinical syndrome did not have this mutation. Compared with normal subjects, reciprocal inhibition between flexor and extensor muscles of the forearm was diminished during the first period of inhibition and preserved during the second period of inhibition in all three patients tested. Facilitation after the early period of inhibition was prominent. Recurrent inhibition of the soleus H reflex was normal in four patients, as was inhibition of the H reflex produced by Achilles' tendon vibration. There was no significant difference in nonreciprocal (Ib) inhibition between patients and normal individuals, The findings suggest that disynaptic reciprocal inhibition in humans is mediated through glycinergic interneurons, but that recurrent inhibition may have a contribution from nonglycinergic mechanisms.

journal_name

Neurology

journal_title

Neurology

authors

Floeter MK,Andermann F,Andermann E,Nigro M,Hallett M

doi

10.1212/wnl.46.3.766

subject

Has Abstract

pub_date

1996-03-01 00:00:00

pages

766-72

issue

3

eissn

0028-3878

issn

1526-632X

journal_volume

46

pub_type

杂志文章
  • Neuropsychological features in childhood and juvenile multiple sclerosis: five-year follow-up.

    abstract:OBJECTIVE:The aim of the study was to perform a third cognitive assessment in our pediatric-onset multiple sclerosis (MS) patient cohort and determine predictors of the individual cognitive outcome. METHODS:After 4.7 ± 0.7 years from baseline evaluation, 48 of 63 patients in the original cohort were reassessed on an e...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/WNL.0000000000000885

    authors: Amato MP,Goretti B,Ghezzi A,Hakiki B,Niccolai C,Lori S,Moiola L,Falautano M,Viterbo RG,Patti F,Cilia S,Pozzilli C,Bianchi V,Roscio M,Martinelli V,Comi G,Portaccio E,Trojano M,MS Study Group of the Italian Neurological

    更新日期:2014-10-14 00:00:00

  • Comment on 2018 American Academy of Neurology guidelines on disease-modifying therapies in MS.

    abstract::The American Academy of Neurology has published a comprehensive review and guidelines for the use of disease-modifying therapies (DMTs) in multiple sclerosis (MS) for the first time since 2002. These guidelines represent the work of MS experts, patients, and guideline experts and are based on their review of randomize...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/WNL.0000000000005574

    authors: Corboy JR,Weinshenker BG,Wingerchuk DM

    更新日期:2018-06-12 00:00:00

  • Deep brain stimulation improves orthostatic regulation of patients with Parkinson disease.

    abstract:OBJECTIVE:To evaluate whether subthalamic nucleus (STN) stimulation has an effect on the orthostatic regulation of patients with Parkinson disease (PD), we studied cardiovascular regulation during on and off phases of STN stimulation. METHODS:We examined 14 patients with PD (mean age 58.1 +/- 5.8 years, 4 women, 10 me...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000244416.30605.f1

    authors: Stemper B,Beric A,Welsch G,Haendl T,Sterio D,Hilz MJ

    更新日期:2006-11-28 00:00:00

  • Mild cognitive impairment, amnestic type: an epidemiologic study.

    abstract:OBJECTIVE:To estimate the prevalence and examine the course of mild cognitive impairment (MCI), amnestic type, using current criteria, within a representative community sample. METHODS:Retroactive application of MCI criteria to data collected during a prospective epidemiologic study was performed. The subjects were dr...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000132523.27540.81

    authors: Ganguli M,Dodge HH,Shen C,DeKosky ST

    更新日期:2004-07-13 00:00:00

  • A comparative study of the cerebrovascular complications of cocaine: alkaloidal versus hydrochloride--a review.

    abstract::Cocaine, especially in its alkaloidal or "crack" form, has been increasingly associated with cerebrovascular disease. Before the crack epidemic, cocaine hydrochloride (HCl) was also implicated as a cause of stroke. However, less is known about the differences in stroke subtypes, age at stroke onset, or presence of und...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.41.8.1173

    authors: Levine SR,Brust JC,Futrell N,Brass LM,Blake D,Fayad P,Schultz LR,Millikan CH,Ho KL,Welch KM

    更新日期:1991-08-01 00:00:00

  • Intermittent negative pressure ventilation in the treatment of respiratory failure in progressive neuromuscular disease.

    abstract::Five men with degenerative neuromuscular diseases (three with amyotrophic lateral sclerosis [ALS] and two with Duchenne's muscular dystrophy [DMD]) who had respiratory failure were treated with intermittent negative pressure ventilation (NPV). One patient with ALS in severe acute respiratory failure was successfully t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.37.12.1874

    authors: Braun SR,Sufit RL,Giovannoni R,O'Connor M,Peters H

    更新日期:1987-12-01 00:00:00

  • International Classification of Diseases (ICD-11) and neurologic disorders: the future.

    abstract::When the WHO's Topic Advisory Group for Neurology (TAG) started work on revision of the ICD-10 diagnostic codes in June 2009, the issues were daunting. The existing classification was produced a generation ago and the need to move to the digital age was becoming imperative. Appreciating modern advances in genetics and...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31829a333c

    authors: Shakir R,Bergen D

    更新日期:2013-07-09 00:00:00

  • Lesion of thalamic centromedian--parafascicular complex after chronic deep brain stimulation.

    abstract::A patient with PD who exhibited disabling tremor and prominent dyskinesia underwent deep brain stimulation (DBS) of the left thalamic ventral intermediate nucleus. The electrode migrated and was replaced but with suboptimal clinical response. Two years later, postmortem analysis found the second electrode tip had ente...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.56.11.1576

    authors: Henderson JM,O'Sullivan DJ,Pell M,Fung VS,Hely MA,Morris JG,Halliday GM

    更新日期:2001-06-12 00:00:00

  • Amyotrophic lateral sclerosis: thyrotropin-releasing hormone and histidyl proline diketopiperazine in the spinal cord and cerebrospinal fluid.

    abstract::In spinal cords from seven amyotrophic lateral sclerosis (ALS) patients and four controls, we found no difference in thyrotropin-releasing hormone (TRH) concentration relative to protein content, but there was a reduction per tissue wet weight in ALS. Immunohistochemical localization of TRH in ALS cord was unaltered. ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.9.1218

    authors: Jackson IM,Adelman LS,Munsat TL,Forte S,Lechan RM

    更新日期:1986-09-01 00:00:00

  • Antiabsence drugs and inhibitory pathways.

    abstract::Conditioning stimuli to the coronal gyrus or periventricular gray matter inhibit the activity of spinal trigeminal neurons. Valproate decreased the corticofugal inhibition of the spinal trigeminal nucleus, as did ethosuximide, trimethadione, and imipramine. Valproate and ethosuximide also decreased the periventricular...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.30.2.126

    authors: Fromm GH,Glass JD,Chattha AS,Martinez AJ,Silverman M

    更新日期:1980-02-01 00:00:00

  • Cerebellar hemorrhage complicating isovaleric acidemia: a case report.

    abstract::Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with IVA consisted of diffuse cerebral edema, massive cerebellar hemorrhage, upward transtentorial herniation, and focal degenerat...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.31.6.746

    authors: Fischer AQ,Challa VR,Burton BK,McLean WT

    更新日期:1981-06-01 00:00:00

  • Reversibility of human myopathy caused by vitamin E deficiency.

    abstract::Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy,...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.8.1182

    authors: Tomasi LG

    更新日期:1979-08-01 00:00:00

  • Neurologic outcomes in retinopathy-negative cerebral malaria survivors.

    abstract:OBJECTIVES:Patients surviving retinopathy-positive cerebral malaria (CM) are at high risk for the development of epilepsy, developmental disabilities, and behavioral abnormalities. We aimed to establish whether retinopathy-negative CM is also a risk factor for these outcomes. METHODS:Between 2005 and 2007, survivors o...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31826aacd4

    authors: Postels DG,Taylor TE,Molyneux M,Mannor K,Kaplan PW,Seydel KB,Chimalizeni YF,Kawaza K,Birbeck GL

    更新日期:2012-09-18 00:00:00

  • Peri-ictal SPECT and surgical treatment for intractable epilepsy related to schizencephaly.

    abstract::The authors evaluated four patients with schizencephaly who underwent subtraction ictal SPECT coregistered to MRI (SISCOM) prior to epilepsy surgery. Three patients had a SISCOM alteration that was concordant with the epileptic brain tissue. Two of these patients were rendered seizure-free and one individual experienc...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000147262.70507.76

    authors: Cascino GD,Buchhalter JR,Sirven JI,So EL,Drazkowski JF,Zimmerman RS,Raffel C

    更新日期:2004-12-28 00:00:00

  • Recognizing and preventing epilepsy-related mortality: A call for action.

    abstract::Epilepsy is associated with a high rate of premature mortality from direct and indirect effects of seizures, epilepsy, and antiseizure therapies. Sudden unexpected death in epilepsy (SUDEP) is the second leading neurologic cause of total lost potential life-years after stroke, yet SUDEP may account for less than half ...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/WNL.0000000000002253

    authors: Devinsky O,Spruill T,Thurman D,Friedman D

    更新日期:2016-02-23 00:00:00

  • Neoplastic meningitis-related encephalopathy: prognostic significance.

    abstract::Two cohorts of 20 patients diagnosed with neoplastic meningitis (NM) with or without encephalopathy were matched with respect to age, sex, primary tumor, and performance status. Median survival was 10 weeks (range 6 to 20 weeks) in the cohort with NM-related encephalopathy compared to 24 weeks (range 8 to 40 weeks) in...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000145599.06491.71

    authors: Chamberlain MC,Tsao-Wei D,Groshen S

    更新日期:2004-12-14 00:00:00

  • Blood-brain barrier disruption is associated with increased mortality after endovascular therapy.

    abstract:OBJECTIVE:To evaluate the incidence, baseline characteristics, and clinical prognosis of blood-brain barrier (BBB) disruption after endovascular therapy in acute ischemic stroke patients. METHODS:A total of 220 patients treated with endovascular therapy between April 2007 and October 2011 were identified from a prospe...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31828406de

    authors: Desilles JP,Rouchaud A,Labreuche J,Meseguer E,Laissy JP,Serfaty JM,Lapergue B,Klein IF,Guidoux C,Cabrejo L,Sirimarco G,Lavallée PC,Schouman-Claeys E,Amarenco P,Mazighi M

    更新日期:2013-02-26 00:00:00

  • Erenumab in chronic migraine: Patient-reported outcomes in a randomized double-blind study.

    abstract:OBJECTIVE:To determine the effect of erenumab, a human monoclonal antibody targeting the calcitonin gene-related peptide receptor, on health-related quality of life (HRQoL), headache impact, and disability in patients with chronic migraine (CM). METHODS:In this double-blind, placebo-controlled study, 667 adults with C...

    journal_title:Neurology

    pub_type: 杂志文章,随机对照试验

    doi:10.1212/WNL.0000000000007452

    authors: Lipton RB,Tepper SJ,Reuter U,Silberstein S,Stewart WF,Nilsen J,Leonardi DK,Desai P,Cheng S,Mikol DD,Lenz R

    更新日期:2019-05-07 00:00:00

  • Neurologic abnormalities in murderers.

    abstract::Thirty-one individuals awaiting trial or sentencing for murder or undergoing an appeal process requested a neurologic examination through legal counsel. We attempted in each instance to obtain EEG, MRI or CT, and neuropsychological testing. Neurologic examination revealed evidence of "frontal" dysfunction in 20 (64.5%...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.45.9.1641

    authors: Blake PY,Pincus JH,Buckner C

    更新日期:1995-09-01 00:00:00

  • Abnormal ventilation during exercise in McArdle's syndrome: modulation by substrate availability.

    abstract::We evaluated ventilation during cycle exercise in four men lacking myophosphorylase. In submaximal exercise of similar relative intensity, ventilation was higher relative to oxygen uptake in McArdle patients than in normal men. The exercise ventilatory response returned to normal after glucose infusion, by fasting to ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.5.716

    authors: Haller RG,Lewis SF

    更新日期:1986-05-01 00:00:00

  • Ullrich disease: collagen VI deficiency: EM suggests a new basis for muscular weakness.

    abstract::Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The auth...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.59.6.920

    authors: Ishikawa H,Sugie K,Murayama K,Ito M,Minami N,Nishino I,Nonaka I

    更新日期:2002-09-24 00:00:00

  • The ability of persons with Alzheimer disease (AD) to make a decision about taking an AD treatment.

    abstract:OBJECTIVE:To examine the severity of impairments in the decision-making abilities (understanding, appreciation, reasoning, and choice) and competency to make a decision to use an Alzheimer disease (AD)-slowing medication in patients with AD and the relationships between these impairments, insight, and overall cognition...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.WNL.0000160000.01742.9D

    authors: Karlawish JH,Casarett DJ,James BD,Xie SX,Kim SY

    更新日期:2005-05-10 00:00:00

  • Clinical manifestations of chronic thiamine deficiency in rhesus monkey.

    abstract::In the course of multiple episodes of thiamine deficiency in the rhesus monkey, the triad of anorexia, apathy, and hind limb weakness is the earliest clinical manifestation. In later episodes, nystagmus, abducens paresis, midline ataxia, dysmetria, and congestive heart failure are also seen. With the exception of dysm...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.27.3.239

    authors: Mesulam MM,Van Hoesen GW,Butters N

    更新日期:1977-03-01 00:00:00

  • Pyruvate dehydrogenase deficiency in spinocerebellar degenerations.

    abstract::To study the incidence of abnormalities of the pyruvate (PDH) or ketoglutarate (KGDH) dehydrogenase complexes in patients with spinocerebellar degenerations, we measured the activities of PDH and KGDH in platelet-enriched preparations from the blood of 14 patients. Low PDH was found in 6 of the 14 patients; low KGDH w...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.1.126

    authors: Kark RA,Rodriguez-Budelli M

    更新日期:1979-01-01 00:00:00

  • A novel autosomal dominant limb-girdle muscular dystrophy (LGMD 1F) maps to 7q32.1-32.2.

    abstract::In 2001, the authors described the clinical features of a genetically distinct autosomal dominant limb-girdle muscular dystrophy (LGMD; LGMD 1F). Using a genome-wide screen with more than 400 microsatellite markers, the authors identified a novel LGMD disease locus at chromosome 7q32.1-32.2. Within this chromosomal re...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000073984.46546.4f

    authors: Palenzuela L,Andreu AL,Gàmez J,Vilà MR,Kunimatsu T,Meseguer A,Cervera C,Fernandez Cadenas I,van der Ven PF,Nygaard TG,Bonilla E,Hirano M

    更新日期:2003-08-12 00:00:00

  • Establishment of epilepsy surgery in Peru.

    abstract::Epilepsy surgery is a well-established treatment for certain types of intractable epilepsy. While there is a relatively high number of epilepsy surgery centers in Canada and the United States, the same cannot be said about many other parts of the world, such as South America. Although there are notable exceptions, suc...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000006029

    authors: Steven DA,Vasquez CM,Delgado JC,Zapata-Luyo W,Becerra A,Barreto E,Arango MF,Burneo JG

    更新日期:2018-08-21 00:00:00

  • Gabapentin relieves trigeminal neuralgia in multiple sclerosis patients.

    abstract::This report describes the effectiveness of gabapentin, a recently approved anticonvulsant, in seven patients with MS experiencing trigeminal neuralgia refractory to treatment with conventional medical therapy. Gabapentin relieved pain completely in six and significantly in the seventh patient. Gabapentin may be a valu...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.51.2.611

    authors: Khan OA

    更新日期:1998-08-01 00:00:00

  • Sequential antibodies to potassium channels and glutamic acid decarboxylase in neuromyotonia.

    abstract::A patient with thymoma-associated neuromyotonia and voltage-gated potassium channel (Kv1.2 and Kv1.6) antibodies by immunoprecipitation and rat brain immunolabeling was treated successfully with immunoadsorption and cyclophosphamide. Curiously, glutamic acid decarboxylase antibodies, absent at onset, appeared later. S...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.WNL.0000156945.39471.2C

    authors: Antozzi C,Frassoni C,Vincent A,Regondi MC,Andreetta F,Bernasconi P,Ciano C,Chang T,Cornelio F,Spreafico R,Mantegazza R

    更新日期:2005-04-12 00:00:00

  • Adjunctive perampanel for refractory partial-onset seizures: randomized phase III study 304.

    abstract:OBJECTIVE:To assess efficacy and safety of once-daily 8 or 12 mg perampanel, a noncompetitive α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid (AMPA) receptor antagonist, when added to concomitant antiepileptic drugs (AEDs) in the treatment of drug-resistant partial-onset seizures. METHODS:This was a multicenter,...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究,随机对照试验

    doi:10.1212/WNL.0b013e3182635735

    authors: French JA,Krauss GL,Biton V,Squillacote D,Yang H,Laurenza A,Kumar D,Rogawski MA

    更新日期:2012-08-07 00:00:00

  • Reduction in voice tremor under thalamic stimulation.

    abstract::We studied the effect of deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus on voice symptoms in seven patients with essential tremor. All had undergone DBS for management of hand tremor. Five of the patients had received unilateral implants; two were treated bilaterally. Each reported improveme...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/wnl.50.3.796

    authors: Carpenter MA,Pahwa R,Miyawaki KL,Wilkinson SB,Searl JP,Koller WC

    更新日期:1998-03-01 00:00:00