The role of pathogenic DJ-1 mutations in Parkinson's disease.

abstract：:Genomic triplication of the alpha-synuclein gene recently has been associated with familial Parkinson's disease in the Spellman-Muenter kindred. Here, we present an independent family, of Swedish-American descent, with hereditary early-onset parkinsonism with dementia due to alpha-synuclein triplication. Brain tissue ...

journal_title：Annals of neurology

authors： Farrer M,Kachergus J,Forno L,Lincoln S,Wang DS,Hulihan M,Maraganore D,Gwinn-Hardy K,Wszolek Z,Dickson D,Langston JW

更新日期：2004-02-01 00:00:00

abstract：:Twenty-six patients with late-stage Parkinson disease were given 0.4 to 15 mg of pergolide mesylate daily in addition to, or as replacement for, levodopa or bromocriptine therapy. Despite treatment with individually determined optimum doses of levodopa, bromocriptine, and anticholinergics, they had shown response fail...

journal_title：Annals of neurology

authors： Lang AE,Quinn N,Brincat S,Marsden CD,Parkes JD

更新日期：1982-09-01 00:00:00

abstract：:Light and electron microscopic findings from two sural nerve biopsies obtained at a one-year interval from a patient with the clinical features of Seitelberger's disease are described. Ballooned axons with accumulations of membranous profiles, vesicles, mitochondria, and a homogeneous center were present, and there we...

journal_title：Annals of neurology

authors： Begeer JH,Houthoff HJ,van Weerden TW,de Groot CJ,Blaauw EH,le Coultre R

更新日期：1979-12-01 00:00:00

abstract：:To define the molecular mechanisms underlying amphetamine (AMPH) neurotoxicity, primary cultures of dopaminergic neurons were examined for drug-induced changes in dopamine (DA) distribution, oxidative stress, protein damage, and cell death. As in earlier studies, AMPH rapidly redistributed vesicular DA to the cytoplas...

journal_title：Annals of neurology

authors： Lotharius J,O'Malley KL

更新日期：2001-01-01 00:00:00

abstract：:Although the cause of multiple sclerosis (MS) has remained obscure, many findings support an autoimmune pathogenesis on the background of a complex interaction between multiple genes and environmental factors. Accordingly, targeting the immune system has been a rational approach for the treatment of MS. The developmen...

journal_title：Annals of neurology

authors： Hemmer B,Hartung HP

更新日期：2007-10-01 00:00:00

abstract：:We report motor cortical function in the left occipital cortex of a subject who suffered a left middle cerebral artery stroke early in development. Transcranial magnetic stimulation of the left occipital cortex evoked contraction of right hand muscles. Electroencephalogram recorded over the left occipital cortex showe...

journal_title：Annals of neurology

authors： Basu A,Graziadio S,Smith M,Clowry GJ,Cioni G,Eyre JA

更新日期：2010-01-01 00:00:00

abstract：:The nucleus basalis of Meynert, which supplies diffuse cholinergic fibers to the cerebral neocortex, was investigated in two cases of parkinsonism-dementia complex of Guam (PDG). The nucleus basalis of the two PDG patients showed extensive neuron loss when compared with age-matched non-Guamanian controls, suggesting t...

journal_title：Annals of neurology

authors： Nakano I,Hirano A

更新日期：1983-01-01 00:00:00

abstract：:Cylindrical spirals are unique membranous structures that were detected in skeletal muscle of a mother and one of her two children; all three have percussion myotonia but no evidence of weak or wasted skeletal muscles. Muscle cramps, stiffness, posteffort muscle tightness, myotonic lid lag, and the cylinders appear or...

journal_title：Annals of neurology

authors： Bove KE,Iannaccone ST,Hilton PK,Samaha F

更新日期：1980-06-01 00:00:00

abstract：:A unique phenotype of Waardenburg-Hirschsprung disease (WS4) accompanied by peripheral neuropathy and central dysmyelination has been recognized recently in association with SOX10 mutations. We report an infant boy with lethal congenital hypomyelinating neuropathy and WS4 who had a heterozygous SOX10 mutation (Q250X)....

journal_title：Annals of neurology

authors： Inoue K,Shilo K,Boerkoel CF,Crowe C,Sawady J,Lupski JR,Agamanolis DP

更新日期：2002-12-01 00:00:00

abstract：:Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...

journal_title：Annals of neurology

authors： Bertram L,Guénette S,Jones J,Keeney D,Mullin K,Crystal A,Basu S,Yhu S,Deng A,Rebeck GW,Hyman BT,Go R,McInnis M,Blacker D,Tanzi R

更新日期：2001-01-01 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：:Early differential diagnosis of motor neuropathies (MN) and lower motor neuron diseases (LMND) is important, as prognosis and therapeutic approaches are different. We evaluated the diagnostic contribution of the biopsy of the motor branch of the obturator nerve and gracilis muscle in 21 consecutive patients in which, ...

journal_title：Annals of neurology

authors： Riva N,Iannaccone S,Corbo M,Casellato C,Sferrazza B,Lazzerini A,Scarlato M,Cerri F,Previtali SC,Nobile-Orazio E,Comi G,Quattrini A

更新日期：2011-01-01 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：: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：:A case-control study was performed to determine the possible roles of various environmental factors, prior illnesses, drug use, and personal habits in the development of Alzheimer's disease. Such information was collected from 40 patients with onset of dementia prior to age 70 and from 80 community control subjects ma...

journal_title：Annals of neurology

authors： Heyman A,Wilkinson WE,Stafford JA,Helms MJ,Sigmon AH,Weinberg T

更新日期：1984-04-01 00:00:00

abstract：:Although most therapeutic efforts and experimental stroke models focus on the concept of complete occlusion of the middle cerebral artery as a result of embolism from the carotid artery or cardiac chamber, relatively little is known about the stroke mechanism of intrinsic middle cerebral artery stenosis. Differences i...

journal_title：Annals of neurology

authors： Wong KS,Gao S,Chan YL,Hansberg T,Lam WW,Droste DW,Kay R,Ringelstein EB

更新日期：2002-07-01 00:00:00

abstract：:A 42-year-old homosexual man without evidence of immune deficiency developed cerebral granulomatous angiitis in association with the isolation of human T-lymphotropic virus type III (HTLV-III) from brain tissue and cerebrospinal fluid. This syndrome may be an additional neurological sequela of HTLV-III infection. ...

journal_title：Annals of neurology

authors： Yankner BA,Skolnik PR,Shoukimas GM,Gabuzda DH,Sobel RA,Ho DD

更新日期：1986-09-01 00:00:00

abstract：:From a population-based sample of 15,504 patients attending Canadian multiple sclerosis (MS) clinics, we have determined the frequency of conjugal MS and have estimated the recurrence risk in offspring of such matings. Twenty-three MS cases were found among 13,550 spouses of study probands for a crude conjugal rate of...

journal_title：Annals of neurology

authors： Ebers GC,Yee IM,Sadovnick AD,Duquette P

更新日期：2000-12-01 00:00:00

abstract：OBJECTIVE:A study was undertaken to establish an enzyme-linked immunosorbent assay (ELISA) to detect JC virus (JCV)-specific antibodies in multiple sclerosis (MS) patients, and to evaluate its potential utility for identifying patients at higher or lower risk (ie, risk stratification) of developing progressive multifoc...

journal_title：Annals of neurology

authors： Gorelik L,Lerner M,Bixler S,Crossman M,Schlain B,Simon K,Pace A,Cheung A,Chen LL,Berman M,Zein F,Wilson E,Yednock T,Sandrock A,Goelz SE,Subramanyam M

更新日期：2010-09-01 00:00:00

abstract：OBJECTIVE:Delayed cerebral ischemia (DCI) is a common, disabling complication of subarachnoid hemorrhage (SAH). Preventing DCI is a key focus of neurocritical care, but interventions carry risk and cannot be applied indiscriminately. Although retrospective studies have identified continuous electroencephalographic (cEE...

journal_title：Annals of neurology

authors： Rosenthal ES,Biswal S,Zafar SF,O'Connor KL,Bechek S,Shenoy AV,Boyle EJ,Shafi MM,Gilmore EJ,Foreman BP,Gaspard N,Leslie-Mazwi TM,Rosand J,Hoch DB,Ayata C,Cash SS,Cole AJ,Patel AB,Westover MB

更新日期：2018-05-01 00:00:00

abstract：:Transcranial magnetic stimulation was performed in 2 patients with focal motor seizures in the right hand caused by a circumscribed tumor process affecting the left precentral gyrus. In both cases, paired-pulse transcranial magnetic stimulation showed a loss of intracortical inhibition for interstimulus intervals of 2...

journal_title：Annals of neurology

authors： Irlbacher K,Brandt SA,Meyer BU

更新日期：2002-07-01 00:00:00

abstract：:Splice-site and missense mutations have been identified in tau associated with frontotemporal dementia with parkinsonism linked to chromosome 17. In this study we assessed the genetic contribution of tau mutations to three patient series with non-Alzheimer's (non-AD) degenerative dementia. The groups included (1) a co...

journal_title：Annals of neurology

authors： Houlden H,Baker M,Adamson J,Grover A,Waring S,Dickson D,Lynch T,Boeve B,Petersen RC,Pickering-Brown S,Owen F,Neary D,Craufurd D,Snowden J,Mann D,Hutton M

更新日期：1999-08-01 00:00:00

abstract：:Microelectrode recording methods for stereotactic localization of the subthalamic nucleus (STN) and surrounding structures are described. These methods accurately define targets for chronic deep brain stimulation in the treatment of Parkinson's disease. Mean firing rates and a burst index were determined for all recor...

journal_title：Annals of neurology

authors： Hutchison WD,Allan RJ,Opitz H,Levy R,Dostrovsky JO,Lang AE,Lozano AM

更新日期：1998-10-01 00:00:00

abstract：:The disappearance rates from plasma of intravenously administered levo-norepinephrine (l-NE), dextro-norepinephrine (d-NE), and isoproterenol (ISO) were measured in normal subjects and in patients with either multiple-system atrophy (MSA) or idiopathic orthostatic hypotension (IOH). The two isomers, l-NE and d-NE, wer...

journal_title：Annals of neurology

authors： Polinsky RJ,Goldstein DS,Brown RT,Keiser HR,Kopin IJ

更新日期：1985-07-01 00:00:00

abstract：:Previous work has shown that lesions in the lateral cerebellum involving the dentate nucleus impair both reaching and pinching movements in humans and monkeys. This study addressed the question of whether disruption of the cerebellar-thalamo-cortical pathway at the level of the thalamus would produce behavioral defici...

journal_title：Annals of neurology

authors： Bastian AJ,Thach WT

更新日期：1995-12-01 00:00:00

abstract：:Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7-month-old male infant who underwent several metabolic studies before death. Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total...

journal_title：Annals of neurology

authors： DeVivo DC,Haymond MW,Obert KA,Nelson JS,Pagliara AS

更新日期：1979-12-01 00:00:00

abstract：:Multiple sclerosis patients who become pregnant experience a significant decrease in relapses that may be mediated by a shift in immune responses from T helper 1 to T helper 2. Animal models of multiple sclerosis have shown that the pregnancy hormone, estriol, can ameliorate disease and can cause an immune shift. We t...

journal_title：Annals of neurology

authors： Sicotte NL,Liva SM,Klutch R,Pfeiffer P,Bouvier S,Odesa S,Wu TC,Voskuhl RR

更新日期：2002-10-01 00:00:00

abstract：OBJECTIVE:To determine whether brain activation changes in clinically and neurocognitively normal human immunodeficiency virus (HIV)-infected and in HIV-seronegative control (SN) participants over a 1-year period. METHODS:Functional magnetic resonance imaging (fMRI) was performed in 32 SN and 31 HIV patients (all with...

journal_title：Annals of neurology

authors： Ernst T,Yakupov R,Nakama H,Crocket G,Cole M,Watters M,Ricardo-Dukelow ML,Chang L

更新日期：2009-03-01 00:00:00

abstract：:During passive extension of the elbow, the triceps muscle normally shows a burst of electromyographic activity. This shortening reaction (SR) is known to be exaggerated in extrapyramidal disease states, but the effects of cerebellar disease are unknown. The SR was measured in both arms of a patient with hemiataxia, th...

journal_title：Annals of neurology

authors： Angel RW

更新日期：1982-03-01 00:00:00

abstract：:Stereotaxic injection of kainic acid into rat striatum produces neuronal degeneration and neurochemical alterations resembling Huntington's disease (HD). Since correction of the deficiency in gamma-aminobutyric acid (GABA) in HD may be of therapeutic value, the efficacy of drugs that inhibit the GABA-degrading enzyme ...

journal_title：Annals of neurology

authors： Schwarcz R,Bennett JP Jr,Coyle JT

更新日期：1977-10-01 00:00:00