Pathophysiologic insights into motor axonal function in Kennedy disease.

Abstract:

OBJECTIVE:Kennedy disease (KD), or spinobulbomuscular atrophy, is a slowly progressive inherited neurodegenerative disorder, marked by prominent fasciculations that typically precede the development of other symptoms. Although the genetic basis of KD relates to triplet (CAG) repeat expansion in the androgen receptor (AR) gene on the X chromosome, the mechanisms underlying the clinical presentation in KD have yet to be established. Consequently, the present study applied axonal excitability techniques to investigate the pathophysiologic mechanisms associated with KD. METHODS:Peripheral nerve excitability studies were undertaken in 7 patients with KD with compound muscle action potentials (CMAP) recorded from the right abductor pollicis brevis. RESULTS:Strength-duration time constant (KD 0.54 +/- 0.03 msec; controls, 0.41 +/- 0.02 msec, p < 0.01) and the hyperpolarizing current/threshold gradient (KD 0.42 +/- 0.01; controls, 0.37 +/- 0.01, p < 0.05) were significantly increased in KD. Strength-duration time constant correlated with the CMAP amplitude (R = 0.68) and the fasciculation frequency (R = 0.62). Threshold electrotonus revealed greater changes in response to subthreshold depolarizing (KD TEd [90 to 100 msec], 50.75 +/- 1.98%; controls TEd [90 to 100 msec], 45.67 +/- 0.67%, p < 0.01) and hyperpolarizing (KD TEh [90 to 100 msec], 128.5 +/- 6.9%; controls TEh [90 to 100 msec], 120.5 +/- 2.4%) conditioning pulses. Measurements of refractoriness, superexcitability, and late subexcitability changed appropriately for axonal hyperpolarization, perhaps reflecting the effects of increased ectopic activity. CONCLUSION:In total, the increase in the strength-duration time constant may be the primary event, occurring early in course of the disease, contributing to the development of axonal hyperexcitability in Kennedy disease, and thereby to the generation of fasciculations, a characteristic hallmark of the disease.

journal_name

Neurology

journal_title

Neurology

authors

Vucic S,Kiernan MC

doi

10.1212/01.wnl.0000279521.81846.59

subject

Has Abstract

pub_date

2007-11-06 00:00:00

pages

1828-35

issue

19

eissn

0028-3878

issn

1526-632X

pii

69/19/1828

journal_volume

69

pub_type

杂志文章
  • Correlations between molecular profile and radiologic pattern in oligodendroglial tumors.

    abstract:OBJECTIVE:To investigate possible correlations between tumor location and genetic alterations in a series of oligodendrogliomas. METHODS:A series of 158 consecutive oligodendrogliomas were retrospectively reviewed. In each case, the radiologic picture and the chromosome 1p (chr 1p) status of the tumor detected by the ...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/01.wnl.0000148642.26985.68

    authors: Laigle-Donadey F,Martin-Duverneuil N,Lejeune J,Crinière E,Capelle L,Duffau H,Cornu P,Broët P,Kujas M,Mokhtari K,Carpentier A,Sanson M,Hoang-Xuan K,Thillet J,Delattre JY

    更新日期:2004-12-28 00:00:00

  • Morphometry of dermal nerve fibers in human skin.

    abstract:OBJECTIVE:We aimed to assess the innervation density of dermal nerves in human skin biopsies by bright-field immunohistochemistry. METHODS:The size of dermal area where nerve length was quantified was validated in 30 skin biopsy sections (5 controls and 5 patients with small-fiber neuropathy [SFN]). It was obtained di...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e318225ab51

    authors: Lauria G,Cazzato D,Porretta-Serapiglia C,Casanova-Molla J,Taiana M,Penza P,Lombardi R,Faber CG,Merkies IS

    更新日期:2011-07-19 00:00:00

  • Genetic association of the low-density lipoprotein receptor-related protein gene (LRP), an apolipoprotein E receptor, with late-onset Alzheimer's disease.

    abstract::The presence of the APOE epsilon 4 allele encoding apolipoprotein E4 (apoE4) is the major genetic risk factor for late-onset Alzheimer's disease (AD). However, the molecular and cellular mechanisms by which APOE epsilon 4 renders AD risk are unclear. In this report, we present genetic evidence that an apoE receptor, L...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.49.1.56

    authors: Kang DE,Saitoh T,Chen X,Xia Y,Masliah E,Hansen LA,Thomas RG,Thal LJ,Katzman R

    更新日期:1997-07-01 00:00:00

  • Summary of evidence-based guideline: complementary and alternative medicine in multiple sclerosis: report of the guideline development subcommittee of the American Academy of Neurology.

    abstract:OBJECTIVE:To develop evidence-based recommendations for complementary and alternative medicine (CAM) in multiple sclerosis (MS). METHODS:We searched the literature (1970-March 2011; March 2011-September 2013 MEDLINE search), classified articles, and linked recommendations to evidence. RESULTS AND RECOMMENDATIONS:Clin...

    journal_title:Neurology

    pub_type: 杂志文章,meta分析

    doi:10.1212/WNL.0000000000000250

    authors: Yadav V,Bever C Jr,Bowen J,Bowling A,Weinstock-Guttman B,Cameron M,Bourdette D,Gronseth GS,Narayanaswami P

    更新日期:2014-03-25 00:00:00

  • Clinical and prognostic subforms of new daily-persistent headache.

    abstract:BACKGROUND:According to the International Classification of Headache Disorders (ICHD)-2, primary daily headaches unremitting from onset are classified as new daily-persistent headache (NDPH) only if migraine features are absent. When migraine features are present, classification is problematic. METHODS:We developed a ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181dad5de

    authors: Robbins MS,Grosberg BM,Napchan U,Crystal SC,Lipton RB

    更新日期:2010-04-27 00:00:00

  • SPECT imaging of the dopamine transporter in juvenile-onset dystonia.

    abstract::Juvenile-onset dystonia that improves after levodopa may occur in both dopa-responsive dystonia (DRD) and juvenile parkinsonism (JP), clinically similar conditions with different prognoses and management goals. The authors show normal striatal uptake of the dopamine transporter ligand FP-CIT with SPECT in a clinically...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.56.2.266

    authors: O'Sullivan JD,Costa DC,Gacinovic S,Lees AJ

    更新日期:2001-01-23 00:00:00

  • Education Research: Physician identification and patient satisfaction on an academic neurology inpatient service.

    abstract:OBJECTIVE:To determine the relationship between neurology inpatient satisfaction and (1) number of physicians involved in the patient's care and (2) patients' ability to identify their physicians. METHODS:A 10-item questionnaire addressing patient satisfaction and identification of physicians on the care team was admi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004961

    authors: Leon Guerrero CR,Anderson T,Zazulia AR

    更新日期:2018-02-13 00:00:00

  • Acute type II myofiber atrophy in critical illness.

    abstract::Two patients with acute onset of profound weakness and loss of muscle bulk during a critical illness had unusual histopathological changes of type II myofibers. Both patients had respiratory failure and prolonged neuromuscular blockade. High-dose steroids were used in only one case and atracurium in the other. Muscle ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.46.3.819

    authors: Gutmann L,Blumenthal D,Gutmann L,Schochet SS

    更新日期:1996-03-01 00:00:00

  • Muscle acid protease activity in amyotrophic lateral sclerosis: correlation with clinical and pathologic features.

    abstract::Acid protease activity was increased in skeletal muscle of patients with ALS. The highest levels of activity were found in individuals with the clinically and histologically most affected muscle. High levels of proteolytic activity correlated with the extent of muscle atrophy, the presence of target fibers and the ove...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.32.8.901

    authors: Antel JP,Chelmicka-Schorr E,Sportiello M,Stefansson K,Wollmann RL,Arnason BG

    更新日期:1982-08-01 00:00:00

  • The value of intracranial pressure monitoring in acute hemispheric stroke.

    abstract:BACKGROUND AND PURPOSE:Persistently elevated intracranial pressure (ICP) has been associated with poor clinical outcome after severe brain injury, such as neurotrauma, intracerebral hemorrhage, and subarachnoidal hemorrhage. Although ICP monitoring is increasingly being used in intensive care treatment of patients with...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.47.2.393

    authors: Schwab S,Aschoff A,Spranger M,Albert F,Hacke W

    更新日期:1996-08-01 00:00:00

  • Tremor due to sodium valproate.

    abstract::Four patients developed postural tremor after ingestion of sodium valproate. The tremor was recorded by a variable-capacitance transducer and was of the "benign essential" type. The dosages of sodium valproate varied between 1000 mg and 2000 mg daily and serum levels were between 34.9 microgram per milliliter and 154....

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.8.1177

    authors: Hyman NM,Dennis PD,Sinclair KG

    更新日期:1979-08-01 00:00:00

  • Corticospinal excitability in human sleep as assessed by transcranial magnetic stimulation.

    abstract::The excitability of the corticospinal system was studied in 23 healthy subjects in sleep stages NREM2, NREM4, REM, and wakefulness using transcranial magnetic stimulation. Assessment of motor thresholds, stimulus-response curves, and latencies of motor evoked potentials shows activation of the fast-conducting corticos...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/01.wnl.0000038762.11894.da

    authors: Grosse P,Khatami R,Salih F,Kühn A,Meyer BU

    更新日期:2002-12-24 00:00:00

  • Response to cancer therapy in a patient with a paraneoplastic choreiform disorder.

    abstract::The authors report a patient with chorea and multifocal neurologic abnormalities associated with a small-cell lung carcinoma. A previously unreported antibody directed at a 76-kD neuronal protein antigen was identified in both serum and CSF. Antitumor treatment resulted in dramatic and sustained clinical neurologic an...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.57.4.719

    authors: Croteau D,Owainati A,Dalmau J,Rogers LR

    更新日期:2001-08-28 00:00:00

  • Effects of fish oil supplementation on acute ischemic brain injury in the rat.

    abstract::We studied the effects of long-term fish oil (FO) dietary supplementation on brain edema, polymorphonuclear neutrophil (PMN) infiltration, and infarct size in a rat stroke model. Rats were given regular rat chow with or without FO supplement (20% of total calories) for 7 weeks. Body weight did not differ between the t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.6.1227

    authors: Lai ML,Hsu CY,Liu TH,He YY,Xu J,Navidi M,Sun G,Hogan EL

    更新日期:1993-06-01 00:00:00

  • Diffusion-weighted MRI in sporadic Creutzfeldt-Jakob disease.

    abstract::Diffusion-weighted MRI (DWI) was used in three patients with autopsy-proven sporadic Creutzfeldt-Jakob disease (CJD) to provide a rapid noninvasive way to make this sometimes confusing diagnosis. DWI prompted the diagnosis of CJD at an early stage and appears to be particularly useful for monitoring the progression of...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.52.1.205

    authors: Demaerel P,Heiner L,Robberecht W,Sciot R,Wilms G

    更新日期:1999-01-01 00:00:00

  • Cerebral microbleeds are a risk factor for warfarin-related intracerebral hemorrhage.

    abstract:BACKGROUND:Cerebral microbleeds are known to be indicative of bleeding-prone microangiopathy and may predict incident intracerebral hemorrhage (ICH). In this study, we investigated whether microbleeds are associated with the incidence of warfarin-related ICH. METHODS:Twenty-four patients with ICH while on outpatient t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000339060.11702.dd

    authors: Lee SH,Ryu WS,Roh JK

    更新日期:2009-01-13 00:00:00

  • Varicella optic neuritis.

    abstract::A 14-year-old girl developed severe bilateral optic neuritis 1 week after the onset of chickenpox. Though previous case reports state that complete recovery is the rule, this child had a persistent decrease in visual acuity in the right eye and loss of color vision and defects in visual fields in both eyes. ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.3.501

    authors: Purvin V,Hrisomalos N,Dunn D

    更新日期:1988-03-01 00:00:00

  • Sural nerve injury in familial amyloid polyneuropathy: MR neurography vs clinicopathologic tools.

    abstract:OBJECTIVE:To detect and quantify lesions of the small-caliber sural nerve (SN) in symptomatic and asymptomatic transthyretin familial amyloid polyneuropathy (TTR-FAP) by high-resolution magnetic resonance neurography (MRN) in correlation with electrophysiologic and histopathologic findings. METHODS:Twenty-five patient...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004178

    authors: Kollmer J,Sahm F,Hegenbart U,Purrucker JC,Kimmich C,Schönland SO,Hund E,Heiland S,Hayes JM,Kristen AV,Röcken C,Pham M,Bendszus M,Weiler M

    更新日期:2017-08-01 00:00:00

  • Depression in patients with early versus late onset of Parkinson's disease.

    abstract::We examined correlates of depression in patients whose onset of Parkinson's disease (PD) began before age 55 (early-onset group) compared with patients whose onset was after age 55 (late-onset group). The early-onset group showed a significantly higher frequency of depression than the late-onset group. When both group...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.11.1441

    authors: Starkstein SE,Berthier ML,Bolduc PL,Preziosi TJ,Robinson RG

    更新日期:1989-11-01 00:00:00

  • Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts: a new progressive disorder due to diffuse cerebral microangiopathy.

    abstract::A new cerebral disorder, described in three unrelated children, has recognizable clinical, radiologic, and neuropathologic findings. The onset occurs from early infancy to adolescence with slowing of cognitive performance, rare convulsive seizures, and a mixture of extrapyramidal, cerebellar, and pyramidal signs. CT s...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1212/wnl.46.5.1297

    authors: Labrune P,Lacroix C,Goutières F,de Laveaucoupet J,Chevalier P,Zerah M,Husson B,Landrieu P

    更新日期:1996-05-01 00:00:00

  • Why acute unilateral vestibular cortex lesions mostly manifest without vertigo.

    abstract:OBJECTIVES:The aim of the current study was, first, to determine the critical causative vestibular areas that in exceptional cases manifest with transient vertigo or dizziness in acute strokes of the middle cerebral artery, and second, to try to explain why in most cases unilateral lesions of these areas manifest witho...

    journal_title:Neurology

    pub_type: 杂志文章,meta分析

    doi:10.1212/WNL.0000000000001501

    authors: Dieterich M,Brandt T

    更新日期:2015-04-21 00:00:00

  • Peripheral neuropathy in Krabbe disease: effect of hematopoietic stem cell transplantation.

    abstract:BACKGROUND:Hematopoietic stem cell transplantation (HSCT) may slow the progression of Krabbe disease (KD) if performed early in the disease. The authors' studies indicate that more than 90% of patients with KD have severe abnormalities in peripheral nerve conduction. OBJECTIVE:To assess the effect of HSCT on nerve con...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000230156.01228.33

    authors: Siddiqi ZA,Sanders DB,Massey JM

    更新日期:2006-07-25 00:00:00

  • Serum creatine phosphokinase and pyruvate kinase in neuromuscular disorders and Duchenne dystrophy carriers.

    abstract::Serum levels of creatine phosphokinase (CPK) and pyruvic kinase (PK) were determined in 42 controls, 57 patients with various neuromuscular disorders, and 23 female relatives of Duchenne dystrophy patients. CPK and PK enzyme activities were increased in comparable numbers of muscle disease patients and female carriers...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.28.10.1047

    authors: Seay AR,Ziter FA,Wu LH,Wu JT

    更新日期:1978-10-01 00:00:00

  • Randomized, double-blind trial of glial cell line-derived neurotrophic factor (GDNF) in PD.

    abstract:OBJECTIVE:To assess the safety, tolerability, and biological activity of glial cell line-derived neurotrophic factor (GDNF) administered by an implanted intracerebroventricular (ICV) catheter and access port in advanced PD. BACKGROUND:GDNF is a peptide that promotes survival of dopamine neurons. It improved 6-OHDA- or...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1212/wnl.60.1.69

    authors: Nutt JG,Burchiel KJ,Comella CL,Jankovic J,Lang AE,Laws ER Jr,Lozano AM,Penn RD,Simpson RK Jr,Stacy M,Wooten GF,ICV GDNF Study Group. Implanted intracerebroventricular. Glial cell line-derived neurotrophic factor.

    更新日期:2003-01-14 00:00:00

  • Interphysician agreement in the diagnosis of subtypes of acute ischemic stroke: implications for clinical trials. The TOAST Investigators.

    abstract::To test interphysician agreement on the diagnosis of subtype of ischemic stroke, we sent subtype definitions and 18 case summaries (clinical features and pertinent laboratory data) to 24 neurologists who have a special interest in stroke, and asked them to determine the most likely subtype diagnosis. The overall agree...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.43.5.1021

    authors: Gordon DL,Bendixen BH,Adams HP Jr,Clarke W,Kappelle LJ,Woolson RF

    更新日期:1993-05-01 00:00:00

  • 18F-fluorodopa PET study of striatal dopamine uptake in the diagnosis of dementia with Lewy bodies.

    abstract::Using (18)F-fluorodopa PET and a constant 0.0062 influx rate in the putamen, dementia with Lewy bodies (n = 7) was distinguished from AD (n = 10) with a sensitivity of 86% and a specificity of 100%. A constant 0.0071 influx rate in the caudate yielded a sensitivity of 71% and a specificity of 100% for distinction of t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.55.10.1575

    authors: Hu XS,Okamura N,Arai H,Higuchi M,Matsui T,Tashiro M,Shinkawa M,Itoh M,Ido T,Sasaki H

    更新日期:2000-11-28 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

  • The mechanism of action of glatiramer acetate treatment in multiple sclerosis.

    abstract:OBJECTIVE:Glatiramer acetate (formerly known as copolymer 1) is the major noninterferon immunomodulatory agent used in the treatment of relapsing-remitting multiple sclerosis. Its mechanism of action over the past 40 years has evolved with our understanding of the immune response. METHODS:We review the various mechani...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/WNL.0b013e3181c97e39

    authors: Racke MK,Lovett-Racke AE,Karandikar NJ

    更新日期:2010-01-05 00:00:00

  • Computerized visual field defects in posterior cortical atrophy.

    abstract:BACKGROUND AND OBJECTIVE:Posterior cortical atrophy (PCA) is a progressive neurodegenerative syndrome that presents with cortical visual dysfunction and relatively preserved memory. Although higher cortical visual syndromes are well known in PCA, visual field defects detected by computerized visual field (CVF) perimetr...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31823e9f2a

    authors: Pelak VS,Smyth SF,Boyer PJ,Filley CM

    更新日期:2011-12-13 00:00:00

  • APOE epsilon2/epsilon4 polymorphism and cerebral microbleeds on gradient-echo MRI.

    abstract::The association of APOE genotypes with cerebral microbleeds (CMBs) was examined on the basis of the location of CMBs in 414 patients who were admitted primarily because of stroke. With respect to possession of the epsilon2 or epsilon4 allele, the adjusted odds ratio was 1.94 (1.05 to 3.58) for lobar CMBs but 1.21 (0.6...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000183311.48144.7f

    authors: Kim M,Bae HJ,Lee J,Kang L,Lee S,Kim S,Lee JE,Lee KM,Yoon BW,Kwon O,Koo JS,Kim BK

    更新日期:2005-11-08 00:00:00