Orthostatic heart rate changes in patients with autonomic failure caused by neurodegenerative synucleinopathies.

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：:In a prospective study, we repeatedly recorded fast goal-directed wrist movements of 8 patients who had experienced an acute cerebellar hypermetria due to a stroke and who had subsequently recovered clinically. Movements and the associated agonist and antagonist electromyographic (EMG) activities were recorded before ...

journal_title：Annals of neurology

authors： Manto M,Jacquy J,Hildebrand J,Godaux E

更新日期：1995-09-01 00:00:00

abstract：:MK-801 and ketamine are noncompetitive N-methyl-D-aspartate (NMDA) receptor blockers that decrease brain injury in animal models of focal and global ischemia. Recent reports, however, suggested that MK-801 itself can damage neurons. Here we show that MK-801 (0.1 to 5.0 mg/kg) and ketamine (40 to 100 mg/kg) typically i...

journal_title：Annals of neurology

authors： Sharp FR,Jasper P,Hall J,Noble L,Sagar SM

更新日期：1991-12-01 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：:Most neurodegenerative disorders are thought to result primarily from the accumulation of misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of diseases, however, noncoding regions of RNAs assume a primary toxic gain-of-function, leading to degeneration in many tissues, including the...

journal_title：Annals of neurology

authors： Todd PK,Paulson HL

更新日期：2010-03-01 00:00:00

abstract：:We analyzed the prion protein gene (PRNP) region in patients with transmissible spongiform encephalopathy associated with the PRNP D178N mutation. The results suggest that the D178N chromosomes had independent origins in each affected pedigree or apparently sporadic case. A de novo spontaneous PRNP mutation was observ...

journal_title：Annals of neurology

authors： Dagvadorj A,Petersen RB,Lee HS,Cervenakova L,Shatunov A,Budka H,Brown P,Gambetti P,Goldfarb LG

更新日期：2002-09-01 00:00:00

abstract：OBJECTIVE:Degeneration of chronically demyelinated axons is a major cause of irreversible neurological decline in the human central nervous system disease, multiple sclerosis (MS). Although the molecular mechanisms responsible for this axonal degeneration remain to be elucidated, dysfunction of axonal Na+/K+ ATPase is ...

journal_title：Annals of neurology

authors： Young EA,Fowler CD,Kidd GJ,Chang A,Rudick R,Fisher E,Trapp BD

更新日期：2008-04-01 00:00:00

abstract：OBJECTIVE:GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood. This study a...

journal_title：Annals of neurology

authors： Masingue M,Dufour L,Lenglet T,Saleille L,Goizet C,Ayrignac X,Ory-Magne F,Barth M,Lamari F,Mandia D,Caillaud C,Nadjar Y

更新日期：2020-04-01 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：:Plasma exchange (PE) is the standard treatment in Guillain-Barré syndrome (GBS) patients who have lost the ability to walk. The effect of exchanges before this stage and the optimal number of exchanges for the other patients are still unknown. We randomized 556 GBS patients according to severity and number of exchange...

journal_title：Annals of neurology

authors：

更新日期：1997-03-01 00:00:00

abstract：:Axonal degeneration is a major cause of permanent neurological deficit in multiple sclerosis (MS), but no current therapies for the disease are known to be effective at axonal protection. Here, we examine the ability of a sodium channel-blocking agent, flecainide, to reduce axonal degeneration in an experimental model...

journal_title：Annals of neurology

authors： Bechtold DA,Kapoor R,Smith KJ

更新日期：2004-05-01 00:00:00

abstract：:We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe structures in patients with temporal lobe epilepsy [correction]. Uptake of 18F-fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory ...

journal_title：Annals of neurology

authors： Weintrob DL,Saling MM,Berkovic SF,Berlangieri SU,Reutens DC

更新日期：2002-04-01 00:00:00

abstract：OBJECTIVE:Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which m...

journal_title：Annals of neurology

authors： Joureau B,de Winter JM,Conijn S,Bogaards SJP,Kovacevic I,Kalganov A,Persson M,Lindqvist J,Stienen GJM,Irving TC,Ma W,Yuen M,Clarke NF,Rassier DE,Malfatti E,Romero NB,Beggs AH,Ottenheijm CAC

更新日期：2018-02-01 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：:The genetic analysis of simple Mendelian epilepsies remains a key strategy in advancing our understanding of epilepsy. In this article, we describe a new family epilepsy syndrome, partial epilepsy with pericentral spikes, which we map to chromosome 4p15. We distinguish it clinically, electrophysiologically, and geneti...

journal_title：Annals of neurology

authors： Kinton L,Johnson MR,Smith SJ,Farrell F,Stevens J,Rance JB,Claudino AM,Duncan JS,Davis MB,Wood NW,Sander JW

更新日期：2002-06-01 00:00:00

abstract：:Ten patients developed a subacute lower motor neuron syndrome as a remote effect of Hodgkin's disease or other lymphoma. The illness usually followed a benign course independent of the activity of the underlying neoplasm. Seven of the patients improved spontaneously, and 3 became neurologically normal. Two patients di...

journal_title：Annals of neurology

authors： Schold SC,Cho ES,Somasundaram M,Posner JB

更新日期：1979-03-01 00:00:00

abstract：:We investigated the relationship between cerebral activity (measured with positron emission tomography) and word rate in normal subjects and aphasic patients listening to monosyllabic words at rates up to those encountered in normal speech. By measuring the slope of the regression of the individual activity-word rate ...

journal_title：Annals of neurology

authors： Leff A,Crinion J,Scott S,Turkheimer F,Howard D,Wise R

更新日期：2002-05-01 00:00:00

abstract：:The current functional model of the basal ganglia suggests that dyskinesia results from abnormally low activity at the output of the system. This view appears incomplete. The recent literature suggests other factors. Thus, dyskinesia may result from disturbance of surround inhibition: a physiologic mechanism to select...

journal_title：Annals of neurology

authors： Filion M

更新日期：2000-04-01 00:00:00

abstract：:We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM

更新日期：2001-11-01 00:00:00

abstract：:Cytogenetic analysis has become an important part of the diagnostic evaluation of most hematological neoplasms. However, there is limited information on the value of cytogenetic analysis in most solid tumors, including cerebral astrocytomas. This report summarizes a prospective cytogenetic study of 99 human cerebral a...

journal_title：Annals of neurology

authors： Kimmel DW,O'Fallon JR,Scheithauer BW,Kelly PJ,Dewald GW,Jenkins RB

更新日期：1992-05-01 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：:Although the static encephalopathies of childhood are common, little is known of the underlying alterations in the neurochemical anatomy of the brain. Using quantitative morphological techniques, we examined the effect of perinatal hypoxia-ischemia on the number and distribution of cholinergic (ACh) neurons in a unila...

journal_title：Annals of neurology

authors： Burke RE,Karanas AL

更新日期：1990-01-01 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：OBJECTIVE:Wide interindividual variability exists in response to tissue plasminogen activator (t-PA) treatment in the acute phase of ischemic stroke. We aimed to find genetic variations associated with hemorrhagic transformation (HT) and mortality rates after t-PA. We then generated a clinical-genetic model for predict...

journal_title：Annals of neurology

authors： del Río-Espínola A,Fernández-Cadenas I,Giralt D,Quiroga A,Gutiérrez-Agulló M,Quintana M,Fernández-Álvarez P,Domingues-Montanari S,Mendióroz M,Delgado P,Turck N,Ruíz A,Ribó M,Castellanos M,Obach V,Martínez S,Freijo MM,Ji

更新日期：2012-11-01 00:00:00

abstract：:A patient developed conjugate horizontal eye deviation to the side opposite a large frontal-perisylvian hemorrhage from a ruptured aneurysm. Autopsy examination confirmed the hemispheric locus of the hemorrhage and failed to disclose any lesion of the brainstem or thalamus to explain the "wrong-way" eye deviation. ...

journal_title：Annals of neurology

authors： Pessin MS,Adelman LS,Prager RJ,Lathi ES,Lange DJ

更新日期：1981-01-01 00:00:00

abstract：OBJECTIVE:To evaluate the efficacy and safety of BHT-3009 in relapsing-remitting multiple sclerosis (MS) and to confirm that BHT-3009 causes immune tolerance. METHODS:BHT-3009 is a tolerizing DNA vaccine for MS, encoding full-length human myelin basic protein. Relapsing-remitting MS patients were randomized 1:1:1 into...

journal_title：Annals of neurology

authors： Garren H,Robinson WH,Krasulová E,Havrdová E,Nadj C,Selmaj K,Losy J,Nadj I,Radue EW,Kidd BA,Gianettoni J,Tersini K,Utz PJ,Valone F,Steinman L,BHT-3009 Study Group.

更新日期：2008-05-01 00:00:00

abstract：OBJECTIVE:Chorioamnionitis is associated with increased risk for cerebral palsy (CP) in term infants. A functional polymorphism in the interleukin-6 (IL-6) gene has been implicated in newborn brain injury. We studied whether the IL-6 -174 G/C polymorphism confers increased risk for CP in term infants. METHODS:This pop...

journal_title：Annals of neurology

authors： Wu YW,Croen LA,Torres AR,Van De Water J,Grether JK,Hsu NN

更新日期：2009-11-01 00:00:00

abstract：:Recently, variant mRNA transcripts for the astroglial glutamate transporter EAAT2 have been detected in brain tissues of 60% of patients with sporadic amyotrophic lateral sclerosis (SALS). We have tested the hypothesis that the gene for EAAT2 may be defective in some ALS cases. In 16 familial ALS (FALS) pedigrees with...

journal_title：Annals of neurology

authors： Aoki M,Lin CL,Rothstein JD,Geller BA,Hosler BA,Munsat TL,Horvitz HR,Brown RH Jr

更新日期：1998-05-01 00:00:00

abstract：OBJECTIVE:Adipocytokines are hormones secreted from adipose tissue that possibly link adiposity and the risk of cardiovascular disease, but limited prospective data exist on plasma adipocytokines and ischemic stroke risk. We investigated associations and predictive properties of 4 plasma adipocytokines, namely resistin...

journal_title：Annals of neurology

authors： Prugger C,Luc G,Haas B,Arveiler D,Machez E,Ferrieres J,Ruidavets JB,Bingham A,Montaye M,Amouyel P,Yarnell J,Kee F,Ducimetiere P,Empana JP,PRIME Study Group.

更新日期：2012-04-01 00:00:00

abstract：:The accuracy of a variety of finger and color confrontation tests in identifying chiasmal and optic nerve visual field defects was assessed in patients whose field defects had been established beforehand by a conventional achromatic kinetic technique on the Goldmann perimeter. Kinetic and static finger confrontation m...

journal_title：Annals of neurology

authors： Trobe JD,Acosta PC,Krischer JP,Trick GL

更新日期：1981-07-01 00:00:00