Complex I defect in muscle from patients with Huntington's disease.

abstract：:The detection of 14-3-3 protein by Western immunoblot is a sensitive and specific cerebrospinal fluid marker of Creutzfeldt-Jakob disease (CJD). We developed a quantitative enzyme-linked immunosorbent assay (ELISA) that reliably detects 14-3-3 in cerebrospinal fluid. In a prospective study of 147 cerebrospinal fluid s...

journal_title：Annals of neurology

authors： Kenney K,Brechtel C,Takahashi H,Kurohara K,Anderson P,Gibbs CJ Jr

更新日期：2000-09-01 00:00:00

abstract：:beta-Dystroglycan, a 43-kd transmembrane dystrophin-associated glycoprotein, plays an important role in linking dystrophin to the laminin-binding alpha-dystroglycan. alpha-/beta-Dystroglycan is encoded by a single gene on chromosome 3p21 and ubiquitously expressed in muscle and nonmuscle tissues. No known human diseas...

journal_title：Annals of neurology

authors： Salih MA,Sunada Y,Al-Nasser M,Ozo CO,Al-Turaiki MH,Akbar M,Campbell KP

更新日期：1996-12-01 00:00:00

abstract：:Pain and other phantom limb (PL) sensations have been proposed to be generated in the brain and to be reflected in activation of specific neural circuits. To test this hypothesis, hypnosis was used as a cognitive tool to alternate between the sensation of PL movement and pain in 8 amputees. Brain activity was measured...

journal_title：Annals of neurology

authors： Willoch F,Rosen G,Tölle TR,Oye I,Wester HJ,Berner N,Schwaiger M,Bartenstein P

更新日期：2000-12-01 00:00:00

abstract：:The dopamine transporter (DAT) may be the single most important determinant of extracellular dopamine concentrations. The importance of DAT in Parkinson's disease (PD) in which DAT may be reduced by 50 to 70% is unclear. We have examined the effects of methylphenidate (MPD), an inhibitor of DAT, administered alone or ...

journal_title：Annals of neurology

authors： Nutt JG,Carter JH,Sexton GJ

更新日期：2004-06-01 00:00:00

abstract：:Dopa-decarboxylase, acetylcholinesterase, sodium plus potassium stimulated adenosine triphosphatase (Na+ + K+-ATPase), and membrane-bound protein kinase were compared in the erythrocytes of patients with Huntington's disease and normal controls. All these enzymes also exist in the basal ganglia. The Na+ +K+-ATPase lev...

journal_title：Annals of neurology

authors： Butterfield DA,Oeswein JQ,Prunty ME,Hisle KC,Markesbery WR

更新日期：1978-07-01 00:00:00

abstract：:In a prospective phase I/II clinical study, we treated eight patients suffering from recurrent glioblastoma multiform with stereotactically guided intratumoral convection-enhanced delivery of an HSV-1-tk gene-bearing liposomal vector and systemic ganciclovir. Noninvasive identification of target tissue together with a...

journal_title：Annals of neurology

authors： Voges J,Reszka R,Gossmann A,Dittmar C,Richter R,Garlip G,Kracht L,Coenen HH,Sturm V,Wienhard K,Heiss WD,Jacobs AH

更新日期：2003-10-01 00:00:00

abstract：:In healthy individuals, motor training elicits cortical plasticity that encodes the kinematic details of the practiced movements and is thought to underlie recovery of function after stroke. The influence of age on this form of plasticity is incompletely understood. We studied 55 healthy subjects and identified a subs...

journal_title：Annals of neurology

authors： Sawaki L,Yaseen Z,Kopylev L,Cohen LG

更新日期：2003-04-01 00:00:00

abstract：:A 51-year-old man with non-HLA-DR2 histocompatibility developed classic signs and symptoms of the narcoleptic tetrad soon after recovering from an episode of cardiopulmonary insufficiency, which occurred during induction of surgical anesthesia. Symptoms included excessive daytime sleepiness, hypnagogic hallucinations,...

journal_title：Annals of neurology

authors： Rivera VM,Meyer JS,Hata T,Ishikawa Y,Imai A

更新日期：1986-05-01 00:00:00

abstract：:The duration of the antiparkinsonian action of levodopa was studied in 48 patients with various response patterns to the oral administration of the dopamine precursor. Deterioration in motor scores after abrupt cessation of a steady-state intravenous levodopa infusion occurred at two successive rates: an initial rapid...

journal_title：Annals of neurology

authors： Fabbrini G,Mouradian MM,Juncos JL,Schlegel J,Mohr E,Chase TN

更新日期：1988-09-01 00:00:00

abstract：:Paraneoplastic chorea is described in 16 patients: 11 with limited small-cell carcinoma, 2 with lung cancer revealed by imaging, 1 with renal cell carcinoma, and 1 with lymphoma. All had CRMP-5-IgG; 6 also had ANNA-1 (anti-Hu), including 1 without evident cancer. Chorea was the initial and most prominent symptom in 11...

journal_title：Annals of neurology

authors： Vernino S,Tuite P,Adler CH,Meschia JF,Boeve BF,Boasberg P,Parisi JE,Lennon VA

更新日期：2002-05-01 00:00:00

abstract：OBJECTIVE:Chronic, low-dose exposure to pesticides is suspected to increase the risk for Parkinson's disease (PD), but data are inconclusive. METHODS:We prospectively examined whether individuals exposed to pesticides have higher risk for PD than those not exposed. The study population comprised participants in the Ca...

journal_title：Annals of neurology

authors： Ascherio A,Chen H,Weisskopf MG,O'Reilly E,McCullough ML,Calle EE,Schwarzschild MA,Thun MJ

更新日期：2006-08-01 00:00:00

abstract：OBJECTIVE:To create a data-driven computational model that identifies brain regions most frequently influenced by successful deep brain stimulation (DBS) of the globus pallidus (GP) for advanced, medication-resistant, generalized dystonia. METHODS:We studied a retrospective cohort of 21 DYT1 primary dystonia patients ...

journal_title：Annals of neurology

authors： Cheung T,Noecker AM,Alterman RL,McIntyre CC,Tagliati M

更新日期：2014-07-01 00:00:00

abstract：:The purpose of this study was to determine the role of high-resolution T2-weighted fast multiplanar inversion-recovery (FMPIR) magnetic resonance (MR) imaging in detecting and delineating microscopic focal cortical dysplasia (FCD). We performed MR scans with FMPIR on 42 patients with suspected neocortical epilepsy. Te...

journal_title：Annals of neurology

authors： Chan S,Chin SS,Nordli DR,Goodman RR,DeLaPaz RL,Pedley TA

更新日期：1998-11-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is a motor neuron disease whose pathophysiological deficits, causing impairment in motor function, are largely unknown. Here we propose that hydrogen sulfide (H2 S), as a glial-released inflammatory factor, contributes to ALS-mediated motor neuron death. METHODS:H2 S conce...

journal_title：Annals of neurology

authors： Davoli A,Greco V,Spalloni A,Guatteo E,Neri C,Rizzo GR,Cordella A,Romigi A,Cortese C,Bernardini S,Sarchielli P,Cardaioli G,Calabresi P,Mercuri NB,Urbani A,Longone P

更新日期：2015-04-01 00:00:00

abstract：OBJECTIVE:Accumulation of mitochondrial DNA (mtDNA) damage has been associated with aging and abnormal oxidative metabolism. We hypothesized that in human immunodeficiency virus-associated sensory neuropathy (HIV-SN), damaged mtDNA accumulates in distal nerve segments, and that a spatial pattern of mitochondrial dysfun...

journal_title：Annals of neurology

authors： Lehmann HC,Chen W,Borzan J,Mankowski JL,Höke A

更新日期：2011-01-01 00:00:00

abstract：:Previous imaging studies using 11C-flumazenil in patients with mesial temporal lobe epilepsy and neocortical partial seizure disorders have found focal decreases in gamma-aminobutyric acid type A/benzodiazepine receptor binding. These studies used subjective visual assessment and a region of interest approach to quant...

journal_title：Annals of neurology

authors： Richardson MP,Koepp MJ,Brooks DJ,Fish DR,Duncan JS

更新日期：1996-08-01 00:00:00

abstract：:The nosological status of multifocal motor neuropathy remains controversial. The clinical and electrodiagnostic hallmarks suggest selective motor fiber involvement. In this study, we asked to what extent sensory nerves might be involved pathologically in multifocal motor neuropathy. Examination of sensory nerve biopsy...

journal_title：Annals of neurology

authors： Corse AM,Chaudhry V,Crawford TO,Cornblath DR,Kuncl RW,Griffin JW

更新日期：1996-03-01 00:00:00

abstract：OBJECTIVE:Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle biopsy. CNM has been associated with mutations in MTM1, DNM2, and BIN1 but many cases remain genetically unresolved. RYR1 encodes the principal sarcoplasmic reticulum calcium release channel and ...

journal_title：Annals of neurology

authors： Wilmshurst JM,Lillis S,Zhou H,Pillay K,Henderson H,Kress W,Müller CR,Ndondo A,Cloke V,Cullup T,Bertini E,Boennemann C,Straub V,Quinlivan R,Dowling JJ,Al-Sarraj S,Treves S,Abbs S,Manzur AY,Sewry CA,Muntoni F,Jung

更新日期：2010-11-01 00:00:00

abstract：:Multiple sclerosis (MS) is characterized by patchy accumulations of inflammatory cells combined with demyelination. There are mononuclear cells in blood and cerebrospinal fluid of patients with MS that produce interferon-gamma and interleukin-4 in response to myelin basic protein (MBP) and proteolipid protein (PLP). H...

journal_title：Annals of neurology

authors： Link J,Fredrikson S,Söderström M,Olsson T,Höjeberg B,Ljungdahl A,Link H

更新日期：1994-02-01 00:00:00

abstract：:A previously healty 43-year-old woman developed bilateral middle cerebral artery occlusion, thrombocytopenia, and multiple thrombi of arteries in the spleen. No underlying cause of her thrombotic disease was detected except for a factor VIII level that was elevated fivefold. An etiological relationship between the cer...

journal_title：Annals of neurology

authors： Kosik KS,Furie B

更新日期：1980-10-01 00:00:00

abstract：:Instrumental neutron activation analysis procedures were used to determine the aluminum content of various brain regions in histologically verified Alzheimer disease (AD) and in controls. The grand mean aluminum level for 74 AD specimens was 0.372 +/- 0.058 microgram/gm and for 137 adult controls, 0.467 +/- 0.033 micr...

journal_title：Annals of neurology

authors： Markesbery WR,Ehmann WD,Hossain TI,Alauddin M,Goodin DT

更新日期：1981-12-01 00:00:00

abstract：:There is currently no effective pharmacological treatment for amyotrophic lateral sclerosis (ALS). Because evidence suggests that multiple pathways may contribute to ALS pathogenesis, we tested in a mouse model of ALS (SOD1(G37R) mice) a combination approach consisting of three drugs for distinct targets in the comple...

journal_title：Annals of neurology

authors： Kriz J,Gowing G,Julien JP

更新日期：2003-04-01 00:00:00

abstract：OBJECTIVE:Loss of cerebral autoregulation (CA) plays a key role in secondary neurologic injury. However, the regional distribution of CA impairment after acute cerebral injury remains unclear because, in clinical practice, CA is only assessed within a limited compartment. Here, we performed large-scale regional mapping...

journal_title：Annals of neurology

authors： Hecht N,Schrammel M,Neumann K,Müller MM,Dreier JP,Vajkoczy P,Woitzik J

更新日期：2021-02-01 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：: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：OBJECTIVE:Huntington's disease (HD) is a monogenic, fully penetrant neurodegenerative disorder, providing an ideal model for understanding brain changes occurring in the years prior to disease onset. Diffusion tensor imaging (DTI) studies show widespread white matter disorganization in the early premanifest stages (pre...

journal_title：Annals of neurology

authors： Zhang J,Gregory S,Scahill RI,Durr A,Thomas DL,Lehericy S,Rees G,Tabrizi SJ,Zhang H,TrackOn-HD investigators.

更新日期：2018-10-01 00:00:00

abstract：:We performed a population-based clinical and molecular genetic study of spinocerebellar ataxia type 6 (SCA6) in the northeast of England. The minimum point prevalence of SCA6 was 1.59 in 100,000 (95% confidence interval [CI], 1.04-2.14), and the number of individuals who either had SCA6 or are at risk of developing SC...

journal_title：Annals of neurology

authors： Craig K,Keers SM,Archibald K,Curtis A,Chinnery PF

更新日期：2004-05-01 00:00:00

abstract：:Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...

journal_title：Annals of neurology

authors： Snijders AH,Takakusaki K,Debu B,Lozano AM,Krishna V,Fasano A,Aziz TZ,Papa SM,Factor SA,Hallett M

更新日期：2016-11-01 00:00:00

abstract：:Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in m...

journal_title：Annals of neurology

authors： Nuwer MR,Perlman SL,Packwood JW,Kark RA

更新日期：1983-01-01 00:00:00

abstract：:A dinucleotide repeat polymorphism in a tau intron was identified and used in a case-control study to analyze the genetic association of tau with several neurodegenerative diseases with tau pathology. Subjects with the homozygous tau AO alleles were excessively represented in the progressive supranuclear palsy (PSP) g...

journal_title：Annals of neurology

authors： Conrad C,Andreadis A,Trojanowski JQ,Dickson DW,Kang D,Chen X,Wiederholt W,Hansen L,Masliah E,Thal LJ,Katzman R,Xia Y,Saitoh T

更新日期：1997-02-01 00:00:00