Oligodendrocytic polyglutamine pathology in dentatorubral-pallidoluysian atrophy.

abstract：:Three patients with inferior branch palsies of the oculomotor nerve are described. Two were under 10 years of age and the third was 30 years old at the onset. All 3 presented with painless diplopia. The onset was sudden in 2 patients and progressive in the third. The palsy cleared within a short time in the 2 patients...

journal_title：Annals of neurology

authors： Susac JO,Hoyt WF

更新日期：1977-10-01 00:00:00

abstract：OBJECTIVE:Therapeutic drug monitoring (TDM) of antiepileptic drugs (AEDs) is widely established for older generation AEDs, whereas there is limited evidence about newer AEDs. Our aim is to assess the benefit of TDM of newer generation AEDs in epilepsy. METHODS:We performed a randomized, controlled trial comparing syst...

journal_title：Annals of neurology

authors： Aícua-Rapún I,André P,Rossetti AO,Ryvlin P,Hottinger AF,Decosterd LA,Buclin T,Novy J

更新日期：2020-01-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to evaluate whether the visual analysis of muscle magnetic resonance imaging scans can identify specific patterns of muscle involvement. METHODS:We assessed scans from 83 patients with muscle disorders characterized by rigidity of the spine secondary to mutations in 4 different genes...

journal_title：Annals of neurology

authors： Mercuri E,Clements E,Offiah A,Pichiecchio A,Vasco G,Bianco F,Berardinelli A,Manzur A,Pane M,Messina S,Gualandi F,Ricci E,Rutherford M,Muntoni F

更新日期：2010-02-01 00:00:00

abstract：OBJECTIVE:To identify brain regions, cell types, or both that generate abnormal electrical discharge in tuberous sclerosis complex (TSC). Here we examined excitatory and inhibitory synaptic currents in human tissue samples obtained from a TSC patient with no discernible cortical tubers and acute neocortical brain slice...

journal_title：Annals of neurology

authors： Wang Y,Greenwood JS,Calcagnotto ME,Kirsch HE,Barbaro NM,Baraban SC

更新日期：2007-02-01 00:00:00

abstract：OBJECTIVE:Somnambulism affects up to 4% of adults and constitutes one of the leading causes of sleep-related violence and self-injury. Diagnosing somnambulism with objective instruments is often difficult because episodes rarely occur in the laboratory. Because sleep deprivation can precipitate sleepwalking, we aimed t...

journal_title：Annals of neurology

authors： Zadra A,Pilon M,Montplaisir J

更新日期：2008-04-01 00:00:00

abstract：:We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle morphology showed myopathic...

journal_title：Annals of neurology

authors： Arenas J,Campos Y,Ribacoba R,Martín MA,Rubio JC,Ablanedo P,Cabello A

更新日期：1998-03-01 00:00:00

abstract：:The functional status of the globus pallidus internal segment (GPi) plays a key role in mediating the effects of antiparkinsonian drugs. During long-term levodopa therapy, patients develop abnormal movements, dyskinesias, the pathophysiological basis of which is poorly understood. We recorded single cells in the GPi o...

journal_title：Annals of neurology

authors： Papa SM,Desimone R,Fiorani M,Oldfield EH

更新日期：1999-11-01 00:00:00

abstract：:It is well recognized that plasma fluctuations resulting from oral levodopa therapy may cause an unstable clinical response in parkinsonian patients. We have therefore developed a slow-release polymer matrix system that can deliver levodopa continuously for extended periods of time (at least 225 days) after subcutaneo...

journal_title：Annals of neurology

authors： Sabel BA,Dominiak P,Hüaser W,During MJ,Freese A

更新日期：1990-11-01 00:00:00

abstract：:A prospective study of 162 patients with adult-onset chronic epilepsy revealed 4 in whom computed tomographic scanning was the only diagnostic test that detected the presence of a surgically correctable cerebral lesion. These patients had suffered from seizures for 1 to 14 years and at the time of operation demonstrat...

journal_title：Annals of neurology

authors： Jabbari B,Huott AD,Di Chiro G,Martins AN,Youngblood LA,Harper MG

更新日期：1980-04-01 00:00:00

abstract：OBJECTIVE:Mutations in the genes encoding the extracellular matrix protein collagen VI (ColVI) cause a spectrum of disorders with variable inheritance including Ullrich congenital muscular dystrophy, Bethlem myopathy, and intermediate phenotypes. We extensively characterized, at the clinical, cellular, and molecular le...

journal_title：Annals of neurology

authors： Briñas L,Richard P,Quijano-Roy S,Gartioux C,Ledeuil C,Lacène E,Makri S,Ferreiro A,Maugenre S,Topaloglu H,Haliloglu G,Pénisson-Besnier I,Jeannet PY,Merlini L,Navarro C,Toutain A,Chaigne D,Desguerre I,de Die-Smulders C

更新日期：2010-10-01 00:00:00

abstract：:Association studies have implicated common variants in the 12q14.1 region containing CYP27B1 in multiple sclerosis (MS). Rare CYP27B1 mutations cause autosomal recessive vitamin D-dependent rickets type 1, and it has recently been reported that heterozygous CYP27B1 mutations are associated with increased MS susceptibi...

journal_title：Annals of neurology

authors： Barizzone N,Pauwels I,Luciano B,Franckaert D,Guerini FR,Cosemans L,Hilven K,Salviati A,Dooley J,Danso-Abeam D,di Sapio A,Cavalla P,Decallonne B,Mathieu C,Liston A,Leone M,Dubois B,D'Alfonso S,Goris A

更新日期：2013-03-01 00:00:00

abstract：OBJECTIVE:To determine the presence and kinetics of antibodies against synaptic proteins in patients with herpes simplex virus encephalitis (HSE). METHODS:Retrospective analysis of 44 patients with polymerase chain reaction-proven HSE for the presence of a large panel of onconeuronal and synaptic receptor antibodies. ...

journal_title：Annals of neurology

authors： Prüss H,Finke C,Höltje M,Hofmann J,Klingbeil C,Probst C,Borowski K,Ahnert-Hilger G,Harms L,Schwab JM,Ploner CJ,Komorowski L,Stoecker W,Dalmau J,Wandinger KP

更新日期：2012-12-01 00:00:00

abstract：:Four examples of grossly mineralized lesions of the brain, causing seizures, are described; they include 2 hamartomas, a choristoma (novel associations), and an idiopathic "brain stone." Each was detectable with routine roentgenograms, and the seizures were ameliorated by surgical therapy. ...

journal_title：Annals of neurology

authors： Averback P

更新日期：1977-10-01 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：:We describe 5 patients who presented with an acute cauda equina syndrome, which we believe was due to infarction of the conus medullaris. In 3 patients, the onset was spontaneous, and in 2 patients it was secondary to temporary occlusion of the distal aorta during medical manipulation. Pain in the buttocks and posteri...

journal_title：Annals of neurology

authors： Anderson NE,Willoughby EW

更新日期：1987-05-01 00:00:00

abstract：:A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...

journal_title：Annals of neurology

authors： Hudson AJ,Farrell MA,Kalnins R,Kaufmann JC

更新日期：1983-12-01 00:00:00

abstract：:Evidence implicating mitochondrial dysfunction in the central nervous system of patients with sporadic amyotrophic lateral sclerosis (SALS) has recently been accumulating. In contrast, data on mitochondrial function in skeletal muscle in SALS are scarce and controversial. We investigated the in situ properties of musc...

journal_title：Annals of neurology

authors： Echaniz-Laguna A,Zoll J,Ribera F,Tranchant C,Warter JM,Lonsdorfer J,Lampert E

更新日期：2002-11-01 00:00:00

abstract：:We describe a 33-year-old homosexual man with a steroid-responsive, remitting and relapsing leukoencephalopathy associated with recent human immunodeficiency virus type 1 (HIV-1) seroconversion. Biopsy of a parieto-occipital lesion revealed demyelination and astrogliosis with focal necrosis. Detailed investigations de...

journal_title：Annals of neurology

authors： Berger JR,Tornatore C,Major EO,Bruce J,Shapshak P,Yoshioka M,Houff S,Sheremata W,Horton GF,Landy H

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:Cognitive impairment is common in epilepsy, particularly in memory function. Interictal spikes (IISs) are thought to disrupt cognition, but it is difficult to delineate their contribution from general impairments in memory produced by etiology and seizures. We investigated the transient impact of focal IISs o...

journal_title：Annals of neurology

authors： Kleen JK,Scott RC,Holmes GL,Lenck-Santini PP

更新日期：2010-02-01 00:00:00

abstract：OBJECTIVE:Metrics of diffusion tensor imaging (DTI) and magnetization transfer imaging (MTI) can detect diffuse axonal injury in traumatic brain injury (TBI). The relationship between the changes in these imaging measures and the underlying pathologies is still relatively unknown. This study investigated the radiologic...

journal_title：Annals of neurology

authors： Tu TW,Williams RA,Lescher JD,Jikaria N,Turtzo LC,Frank JA

更新日期：2016-06-01 00:00:00

abstract：OBJECTIVE:Rapid reversal of the anticoagulatory effect of vitamin K antagonists represents the primary emergency treatment for oral anticoagulant-related intracerebral hemorrhage (OAC-ICH). Predicting the amount of prothrombin complex concentrate (PCC) needed to reverse OAC in individual patients is difficult, and repe...

journal_title：Annals of neurology

authors： Rizos T,Jenetzky E,Herweh C,Hug A,Hacke W,Steiner T,Veltkamp R

更新日期：2010-06-01 00:00:00

abstract：:Four guanidino compounds that have been found to be markedly increased in cerebrospinal fluid and brain tissue of uremic patients, namely, guanidine, methylguanidine, creatinine, and guanidinosuccinic acid, were applied to mouse spinal cord neurons in primary dissociated cell culture to evaluate their effects on posts...

journal_title：Annals of neurology

authors： De Deyn PP,Macdonald RL

更新日期：1990-11-01 00:00:00

abstract：:The relationship between extrapyramidal sign (EPS) severity and cognitive function was investigated in 184 patients with idiopathic Parkinson's disease (PD) and 301 normal elderly individuals from a community-dwelling cohort in northern Manhattan, New York City. Fifty-six of the patients with PD met criteria for demen...

journal_title：Annals of neurology

authors： Richards M,Stern Y,Marder K,Cote L,Mayeux R

更新日期：1993-03-01 00:00:00

abstract：OBJECTIVE:Myasthenia gravis (MG), a neuromuscular disease mediated by anti-acetylcholine receptor (AChR) autoantibodies, is associated with thymic hyperplasia characterized by ectopic germinal centers that contain pathogenic antibody-producing B cells. Our thymic transcriptome study demonstrated increased expression of...

journal_title：Annals of neurology

authors： Berrih-Aknin S,Ruhlmann N,Bismuth J,Cizeron-Clairac G,Zelman E,Shachar I,Dartevelle P,de Rosbo NK,Le Panse R

更新日期：2009-10-01 00:00:00

abstract：:Ten patients with sporadic olivopontocerebellar atrophy and autonomic failure were studied with positron emission tomography. Subjects underwent both an [11C]diprenorphine and an [18F]fluorodopa scan. The mean caudate-occipital uptake ratio for [11C]diprenorphine was significantly reduced to 88% and the putamen-occipi...

journal_title：Annals of neurology

authors： Rinne JO,Burn DJ,Mathias CJ,Quinn NP,Marsden CD,Brooks DJ

更新日期：1995-05-01 00:00:00

abstract：OBJECTIVE:This meta-analysis aims to quantitatively synthesize all studies that examine the association between adherence to a Mediterranean diet and risk of stroke, depression, cognitive impairment, and Parkinson disease. METHODS:Potentially eligible publications were those providing effect estimates of relative risk...

journal_title：Annals of neurology

authors： Psaltopoulou T,Sergentanis TN,Panagiotakos DB,Sergentanis IN,Kosti R,Scarmeas N

更新日期：2013-10-01 00:00:00

abstract：:Mutations in DJ-1 (PARK7) have been reported in two consanguineous families with young-onset Parkinson's disease (YOPD). This study aims to confirm the presence of pathogenic DJ-1 mutations and determine their contribution in young-onset and more typical later onset Parkinson's disease (PD). The entire open reading fr...

journal_title：Annals of neurology

authors： Abou-Sleiman PM,Healy DG,Quinn N,Lees AJ,Wood NW

更新日期：2003-09-01 00:00:00

abstract：OBJECTIVE:To understand how monosynaptic inputs onto adult-born dentate granule cells (DGCs) are altered in experimental mesial temporal lobe epilepsy (mTLE) and whether their integration differs from early-born DGCs that are mature at the time of epileptogenesis. METHODS:A dual-virus tracing strategy combining retrov...

journal_title：Annals of neurology

authors： Du X,Zhang H,Parent JM

更新日期：2017-06-01 00:00:00

abstract：:The clinical and neuropathological findings in 28 cases of paramedian thalamic and midbrain infarcts are reported. The 4 instances of unilateral paramedian thalamic infarct were characterized by mood and behavioral changes, limitation of the infarct to the center of the anatomical paramedian territory, and symmetrical...

journal_title：Annals of neurology

authors： Castaigne P,Lhermitte F,Buge A,Escourolle R,Hauw JJ,Lyon-Caen O

更新日期：1981-08-01 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