X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

abstract：:The neurodiagnostic criteria of Leigh syndrome have not yet been clearly redefined based on the expanding of molecular etiologies. We aimed to analyze 20 years of clinical, genetic, and magnetic resonance studies from our Leigh syndrome cohort to provide a detailed description of central nervous system lesions in Leig...

journal_title：Annals of neurology

authors： Alves CAPF,Teixeira SR,Martin-Saavedra JS,Guimarães Gonçalves F,Lo Russo F,Muraresku C,McCormick EM,Falk MJ,Zolkipli-Cunningham Z,Ganetzky R,Vossough A,Goldstein A,Zuccoli G

更新日期：2020-08-01 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：:Positron emission tomography (PET) of glucose metabolism is often applied for the localization of epileptogenic brain regions, but hypometabolic areas are often larger than or can miss epileptogenic cortex in nonlesional neocortical epilepsy. The present study is a three-dimensional brain surface analysis designed to ...

journal_title：Annals of neurology

authors： Juhász C,Chugani DC,Muzik O,Watson C,Shah J,Shah A,Chugani HT

更新日期：2000-07-01 00:00:00

abstract：:Membrane cofactor protein (CD46) is a member of a family of glycoproteins that are regulators of complement and prevent activation of complement on autologous cells. Recently, CD46 has been identified as the cellular receptor for human herpesvirus Type 6 (HHV-6). Elevated levels of soluble CD46 have been described in ...

journal_title：Annals of neurology

authors： Soldan SS,Fogdell-Hahn A,Brennan MB,Mittleman BB,Ballerini C,Massacesi L,Seya T,McFarland HF,Jacobson S

更新日期：2001-10-01 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：:The cervical nerves may play a significant role in primary headache disorders. We reviewed the patterns of pain evoked by stimulation of the first 3 cervical nerves (C1-C3) in 10 patients with chronic occipital pain, 6 of whom also had migraine. Stimulation at the C1 level evoked periorbital and frontal pain in 6 of 6...

journal_title：Annals of neurology

authors： Johnston MM,Jordan SE,Charles AC

更新日期：2013-07-01 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：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：OBJECTIVE:Chronic seizures in women can have adverse effects on reproductive function, such as polycystic ovarian syndrome, but it has been difficult to dissociate the effects of epilepsy from the role of antiepileptic drugs. To distinguish the effects of chronic seizures from medication, we used the laboratory rat, be...

journal_title：Annals of neurology

authors： Scharfman HE,Kim M,Hintz TM,MacLusky NJ

更新日期：2008-12-01 00:00:00

abstract：:WAIS performance was compared in 35 pairs of left- and right-handed subjects who had been individually matched for lateralization, cause of brain damage, age, education, and gender. WAIS results were similar in the two groups as well as in two subgroups of subjects with unilateral brain damage. No differences between ...

journal_title：Annals of neurology

authors： Todd J,Satz P

更新日期：1977-11-01 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：OBJECTIVE:The primary imaging modalities used to select patients for endovascular thrombectomy (EVT) are noncontrast computed tomography (CT) and CT perfusion (CTP). However, their relative utility is uncertain. We prospectively assessed CT and CTP concordance/discordance and correlated the imaging profiles on both wit...

journal_title：Annals of neurology

authors： Sarraj A,Hassan AE,Grotta J,Sitton C,Cutter G,Cai C,Chen PR,Imam B,Pujara D,Arora A,Reddy S,Parsha K,Riascos RF,Vora N,Abraham M,Edgell R,Hellinger F,Haussen DC,Blackburn S,Kamal H,Barreto AD,Martin-Schild S,L

更新日期：2020-03-01 00:00:00

abstract：:A 65-year-old woman with subacute global deterioration of neurological function had bilateral occlusion of the internal carotid arteries demonstrated by angiography. Postmortem examination showed isolated giant cell arteritis involving the carotid siphon bilaterally. ...

journal_title：Annals of neurology

authors： Howard GF 3rd,Ho SU,Kim KS,Wallach J

更新日期：1984-02-01 00:00:00

abstract：:Three of six rabbits immunized with purified GD1b developed ataxic sensory neuropathy. They laid on the floor with their limbs splayed out, and their movements were awkward; but muscle power, tonus, and superficial sensation appeared to be intact. Sciatic nerve motor conduction studies were normal. Axonal degeneration...

journal_title：Annals of neurology

authors： Kusunoki S,Shimizu J,Chiba A,Ugawa Y,Hitoshi S,Kanazawa I

更新日期：1996-04-01 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：:Congenital amusia is a lifelong disability that prevents afflicted individuals from enjoying music as ordinary people do. The deficit is limited to music and cannot be explained by prior brain lesion, hearing loss, or any cognitive or socio-affective disturbance. Recent behavioral results suggest that this disorder is...

journal_title：Annals of neurology

authors： Peretz I,Brattico E,Tervaniemi M

更新日期：2005-09-01 00:00:00

abstract：:Chronic progressive myelopathy (CPM) is a difficult clinical problem. Many patients who present with CPM turn out to have a spinal form of multiple sclerosis (MS), but until there is clear lesion dissemination, a definite clinical diagnosis cannot be made. We have looked for MS-related abnormalities in 72 patients wit...

journal_title：Annals of neurology

authors： Paty DW,Blume WT,Brown WF,Jaatoul N,Kertesz A,McInnis W

更新日期：1979-11-01 00:00:00

abstract：:Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilled...

journal_title：Annals of neurology

authors： Chimowitz MI,Little JR,Awad IA,Sila CA,Kosmorsky G,Furlan AJ

更新日期：1990-05-01 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：: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：:A prospective clinical and biochemical study on the effects of treatment with haloperidol has been performed in seven patients with Tourette syndrome. Pretreatment cerebrospinal fluid levels of homovanillic acid (CSF HVA) were significantly reduce in all patients, whereas 5-hydroxyindoleacetic acid was reduced in only...

journal_title：Annals of neurology

authors： Singer HS,Butler IJ,Tune LE,Seifert WE Jr,Coyle JT

更新日期：1982-10-01 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：:Platelet-derived growth factor (PDGF) ligand is a potent glial cell mitogen. When its cognate receptor (PDGF-alphaR) is expressed on oligodendroglial lineage cells, such cells are considered capable of division, and the receptor thus serves as a phenotypic marker for oligodendrocyte precursor cells. Here we identify u...

journal_title：Annals of neurology

authors： Maeda Y,Solanky M,Menonna J,Chapin J,Li W,Dowling P

更新日期：2001-06-01 00:00:00

abstract：:The hypothalamus was systematically examined in 30 patients with pathologically documented idiopathic parkinsonism. Using Lewy body formation as a marker for nerve cell degeneration, we observed abnormalities in every hypothalamus examined. Of the thirteen hypothalamic nuclei that could be individually identified, non...

journal_title：Annals of neurology

authors： Langston JW,Forno LS

更新日期：1978-02-01 00:00:00

abstract：OBJECTIVE:Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. METHODS:Patients eva...

journal_title：Annals of neurology

authors： Norcliffe-Kaufmann L,Kaufmann H,Palma JA,Shibao CA,Biaggioni I,Peltier AC,Singer W,Low PA,Goldstein DS,Gibbons CH,Freeman R,Robertson D,Autonomic Disorders Consortium.

更新日期：2018-03-01 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：:We report the use of a new stable isotope-labeled form of levodopa (LD) to examine in vivo central LD metabolism in Parkinson's disease (PD). Eight patients representing a wide spectrum of disease severity were administered 50 mg of carbidopa orally followed in 1 hour by an intravenous bolus of 150 mg of stable isotop...

journal_title：Annals of neurology

authors： Durso R,Evans JE,Josephs E,Szabo GK,Evans BA,Handler JS,Jennings D,Browne TR

更新日期：1997-09-01 00:00:00

abstract：:Nineteen patients with radiologically confirmed stroke, and varying degrees of hemiparesis, were studied using somatosensory evoked potentials and the recently developed technique of transcutaneous motor cortex stimulation. The functional deficit caused by stroke was assessed at the time of evoked potential testing an...

journal_title：Annals of neurology

authors： Macdonell RA,Donnan GA,Bladin PF

更新日期：1989-01-01 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：OBJECTIVE:Intracranial electroencephalography (ICEEG) with chronically implanted electrodes is a costly invasive diagnostic procedure that remains necessary for a large proportion of patients who undergo evaluation for epilepsy surgery. This study was designed to evaluate whether magnetic source imaging (MSI), a noninv...

journal_title：Annals of neurology

authors： Knowlton RC,Razdan SN,Limdi N,Elgavish RA,Killen J,Blount J,Burneo JG,Ver Hoef L,Paige L,Faught E,Kankirawatana P,Bartolucci A,Riley K,Kuzniecky R

更新日期：2009-06-01 00:00:00