Gerstmann-Sträussler-Scheinker disease with coincidental familial onset.

abstract：:Aggregated tau proteins constitute the basic matrix of neuronal inclusions specific to numerous neurodegenerative disorders. Monodimensional and two-dimensional Western blot analyses performed on cortical brain homogenates allowed discrimination between disease-specific tau protein profiles. These observations raised ...

journal_title：Annals of neurology

authors： Delacourte A,Sergeant N,Wattez A,Gauvreau D,Robitaille Y

更新日期：1998-02-01 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：OBJECTIVE:Whether febrile status epilepticus (FSE) produces hippocampal sclerosis (HS) and temporal lobe epilepsy (TLE) has long been debated. Our objective is to determine whether FSE produces acute hippocampal injury that evolves to HS. METHODS:FEBSTAT and 2 affiliated studies prospectively recruited 226 children ag...

journal_title：Annals of neurology

authors： Lewis DV,Shinnar S,Hesdorffer DC,Bagiella E,Bello JA,Chan S,Xu Y,MacFall J,Gomes WA,Moshé SL,Mathern GW,Pellock JM,Nordli DR Jr,Frank LM,Provenzale J,Shinnar RC,Epstein LG,Masur D,Litherland C,Sun S,FEBSTAT Study

更新日期：2014-02-01 00:00:00

abstract：OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...

journal_title：Annals of neurology

authors： Glover LE,Newton K,Krishnan G,Bronson R,Boyle A,Krivickas LS,Brown RH Jr

更新日期：2010-03-01 00:00:00

abstract：OBJECTIVE:We aimed to determine the risk of short- and long-term stroke, as well as accidental injury, in patients discharged from an emergency department who were given a diagnosis of a peripheral vestibular disorder. METHODS:In this population-based, retrospective, cohort study, we identified all adult patients who ...

journal_title：Annals of neurology

authors： Atzema CL,Grewal K,Lu H,Kapral MK,Kulkarni G,Austin PC

更新日期：2016-01-01 00:00:00

abstract：:We describe a family of 9 affected individuals in three generations with nocturnal oro-facio-brachial partial seizures, secondarily generalized partial seizures, and centro-temporal epileptiform discharges, associated with oral and speech dyspraxia and cognitive impairment. The speech disorder was prominent, but diffe...

journal_title：Annals of neurology

authors： Scheffer IE,Jones L,Pozzebon M,Howell RA,Saling MM,Berkovic SF

更新日期：1995-10-01 00:00:00

abstract：:Imaging of cerebrovascular beta-amyloid (cerebral amyloid angiopathy) is complicated by the nearly universal overlap of this pathology with Alzheimer's pathology. We performed positron emission tomographic imaging with Pittsburgh Compound B on 42-year-old man with early manifestations of Iowa-type hereditary cerebral ...

journal_title：Annals of neurology

authors： Greenberg SM,Grabowski T,Gurol ME,Skehan ME,Nandigam RN,Becker JA,Garcia-Alloza M,Prada C,Frosch MP,Rosand J,Viswanathan A,Smith EE,Johnson KA

更新日期：2008-11-01 00:00:00

abstract：:Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutar...

journal_title：Annals of neurology

authors： Ortigoza-Escobar JD,Alfadhel M,Molero-Luis M,Darin N,Spiegel R,de Coo IF,Gerards M,Taylor RW,Artuch R,Nashabat M,Rodríguez-Pombo P,Tabarki B,Pérez-Dueñas B,Thiamine Deficiency Study Group.

更新日期：2017-09-01 00:00:00

abstract：:Gustatory sweating is an autonomic disorder that frequently occurs after parotid gland surgery. We investigated the action of intracutaneous injections of botulinum toxin (BTX) (1.0-2.0 mouse units/2.25-cm2 skin area) in 45 patients (mean age, 52 years) with gustatory sweating. The area of hyperhidrosis was determined...

journal_title：Annals of neurology

authors： Naumann M,Zellner M,Toyka KV,Reiners K

更新日期：1997-12-01 00:00:00

abstract：:Recent reports showed many patients with chronic fatigue syndrome (CFS) harbor a retrovirus, xenotropic murine leukemia-related virus (XMRV), in blood; other studies could not replicate this finding. A useful next step would be to examine cerebrospinal fluid, because in some patients CFS is thought to be a brain disor...

journal_title：Annals of neurology

authors： Schutzer SE,Rounds MA,Natelson BH,Ecker DJ,Eshoo MW

更新日期：2011-04-01 00:00:00

abstract：:A 53-year-old man presented with a lumbosacral polyradiculoneuropathy and developed fluctuating encephalopathy suggestive of multifocal small vessel disease. Postmortem examination demonstrated multifocal vascular occlusion by undifferentiated cells confined to the intravascular space. Extravascular spread was found o...

journal_title：Annals of neurology

authors： Krieger C,Robitaille Y,Jothy S,Elleker G

更新日期：1982-11-01 00:00:00

abstract：:Free and bound levels of anti-myelin basic protein (anti-MBP) antibodies were measured by radioimmunoassay in the cerebrospinal fluid of 20 patients with acute idiopathic optic neuritis, 133 patients with multiple sclerosis (MS) divided into three clinical subgroups, and 76 normal control subjects. Patients with idiop...

journal_title：Annals of neurology

authors： Warren KG,Catz I,Bauer C

更新日期：1988-03-01 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：:D2 dopamine receptor densities were measured in postmortem samples of the caudate nucleus and putamen from 36 parkinsonian patients. The relationship between the age of the patient, duration of the disease, and duration of L-dopa therapy versus density of brain D2 dopamine receptors was examined using [3H]spiperone. R...

journal_title：Annals of neurology

authors： Guttman M,Seeman P,Reynolds GP,Riederer P,Jellinger K,Tourtellotte WW

更新日期：1986-05-01 00:00:00

abstract：OBJECTIVE:Cerebellar dysfunction in multiple sclerosis (MS) contributes significantly to disability, is relatively refractory to symptomatic therapy, and often progresses despite treatment with disease-modifying agents. We previously observed that sodium channel Nav1.8, whose expression is normally restricted to the pe...

journal_title：Annals of neurology

authors： Shields SD,Cheng X,Gasser A,Saab CY,Tyrrell L,Eastman EM,Iwata M,Zwinger PJ,Black JA,Dib-Hajj SD,Waxman SG

更新日期：2012-02-01 00:00:00

abstract：:Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...

journal_title：Annals of neurology

authors： Batshaw ML

更新日期：1994-02-01 00:00:00

abstract：:To investigate the clinical features of transient cerebral hypoxia, syncope was induced in 56 of 59 healthy volunteers through a sequence of hyperventilation, orthostasis, and Valsalva maneuver. All events were monitored on video by two cameras. Complete syncope with falling and loss of consciousness was observed in 4...

journal_title：Annals of neurology

authors： Lempert T,Bauer M,Schmidt D

更新日期：1994-08-01 00:00:00

abstract：:Measurement of conduction velocity along the H reflex arc was used to study sensorimotor peripheral nerve function in diabetic patients during short- and long-term improvement of hyperglycemia. In ten type I diabetics a slight (p less than 0.05) conduction increase occurred after 6 hours of normal glycemia induced by ...

journal_title：Annals of neurology

authors： Troni W,Carta Q,Cantello R,Caselle MT,Rainero I

更新日期：1984-08-01 00:00:00

abstract：:Unverricht-Lundborg disease is a clinically recognizable form of progressive myoclonus epilepsy. Recently, in several families of both Finnish and Mediterranean extraction segregating Unverricht-Lundborg disease, the gene for this disease was linked to the same region of the long arm of chromosome 21. We performed lin...

journal_title：Annals of neurology

authors： Cochius JI,Figlewicz DA,Kälviäinen R,Nousiainen U,Farrell K,Patry G,Söderfeldt B,Frydman M,Lerman P,Andermann F

更新日期：1993-11-01 00:00:00

abstract：:Interpretation of biochemical measurements in the human brain after death is complicated by a variety of premortem, perimortem, and postmortem factors. The activity of glutamic acid decarboxylase (GAD) in particular has been found to vary considerably among human brains. In contrast to neurotransmitter-associated enzy...

journal_title：Annals of neurology

authors： Maker HS,Weiss C,Weissbarth S,Silides DJ,Whetsell W

更新日期：1981-10-01 00:00:00

abstract：:Intracranial abscesses are uncommon in the newborn. Observation of 2 infants and a review of the literature reveal that the offending organism was a Citrobacter in 12 of the 16 documented cases. In the Neonatal Meningitis Cooperative Study this organism was responsible for meningitis in only 4%. However, an analysis o...

journal_title：Annals of neurology

authors： Curless RG

更新日期：1980-09-01 00:00:00

abstract：:Epilepsy is a disease of recurrent seizures that can develop after a wide range of brain insults. Although surgical resection of focal regions of seizure onset can result in clinical improvement, the molecular mechanisms that produce and maintain focal hyperexcitability are not understood. Here, we demonstrate a regio...

journal_title：Annals of neurology

authors： Rakhade SN,Yao B,Ahmed S,Asano E,Beaumont TL,Shah AK,Draghici S,Krauss R,Chugani HT,Sood S,Loeb JA

更新日期：2005-11-01 00:00:00

abstract：OBJECTIVE:C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS:Data were...

journal_title：Annals of neurology

authors： Le Blanc G,Jetté Pomerleau V,McCarthy J,Borroni B,van Swieten J,Galimberti D,Sanchez-Valle R,LaForce R Jr,Moreno F,Synofzik M,Graff C,Masellis M,Tartaglia MC,Rowe JB,Vandenberghe R,Finger E,Tagliavini F,de Mendonça A,

更新日期：2020-07-01 00:00:00

abstract：OBJECTIVE:There are no validated methods for predicting the timing of seizures. Using machine learning, we sought to forecast 24-hour risk of self-reported seizure from e-diaries. METHODS:Data from 5,419 patients on SeizureTracker.com (including seizure count, type, and duration) were split into training (3,806 patien...

journal_title：Annals of neurology

authors： Goldenholz DM,Goldenholz SR,Romero J,Moss R,Sun H,Westover B

更新日期：2020-09-01 00:00:00

abstract：:The prevalence of clinical signs and neuropathological findings of Alzheimer's disease (AD) is high in Down's syndrome (DS). In the general population, the apolipoprotein E (ApoE) epsilon 4 isoform is an important risk for AD. We studied the allelic frequencies of ApoE in 26 DS cases fulfilling clinical diagnostic cri...

journal_title：Annals of neurology

authors： van Gool WA,Evenhuis HM,van Duijn CM

更新日期：1995-08-01 00:00:00

abstract：:Saturated very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high-performance liquid chromatography. Ratios of C26:0 to...

journal_title：Annals of neurology

authors： Antoku Y,Koike F,Ohtsuka Y,Sakai T,Tsukamoto K,Nagara H,Iwashita H,Goto I

更新日期：1991-07-01 00:00:00

abstract：:The cerebrovascular response of newborn animals to hypotension has not been defined on a regional basis. Using an autoradiographic technique employing 14C-iodoantipyrine as indicator, we studied the cerebral physiological responses of newborn dogs to hypotension induced by exsanguination or by administration of Escher...

journal_title：Annals of neurology

authors： Young RS,Hernandez MJ,Yagel SK

更新日期：1982-11-01 00:00:00

abstract：:Positron emission tomography (PET) of brain glucose utilization is highly sensitive in detecting focal cortical abnormalities in patients with infantile spasms even when the computed tomographic (CT) and magnetic resonance imaging (MRI) scans are normal. Of 110 infants with spasms evaluated for potential surgical inte...

journal_title：Annals of neurology

authors： Chugani HT,Da Silva E,Chugani DC

更新日期：1996-05-01 00:00:00

abstract：:Twenty patients with Parkinson's disease were treated with the 8-alpha-ergoline derivative mesulergine. Participants were divided into two groups, and over a nine-week period, mesulergine dosage was increased to a maximum of either 10 or 20 mg daily. During this time levodopa-carbidopa (LD-CD) dosage was reduced and t...

journal_title：Annals of neurology

authors： Pfeiffer RF,Wilken K,Glaeske C

更新日期：1985-04-01 00:00:00

abstract：:Recent studies reported the presence of anti-ganglioside antibodies in occasional patients with motor neuron disease. We found polyclonal serum IgM anti-GM1 antibodies by an anti-GM1 enzyme-linked immunosorbent assay (ELISA) in 9 (19%) of 48 patients with motor neuron disease. A comparable frequency of IgM anti-GM1 an...

journal_title：Annals of neurology

authors： Salazar-Grueso EF,Routbort MJ,Martin J,Dawson G,Roos RP

更新日期：1990-05-01 00:00:00