Alternating skew on lateral gaze (bilateral abducting hypertropia).

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：:The published information on glutamate levels in cerebrospinal fluid (CSF) and modifications in neurological disorders is controversial. In the present study, we demonstrated a metabolic instability of glutamate in untreated CSF and a spurious elevation of its levels by the current methods of CSF acidification. These ...

journal_title：Annals of neurology

authors： Ferrarese C,Pecora N,Frigo M,Appollonio I,Frattola L

更新日期：1993-03-01 00:00:00

abstract：:Pathological evidence suggests that alterations of the blood-brain barrier (BBB) may occur in association with human immunodeficiency virus (HIV) dementia (HIVD). Increased BBB permeability could contribute to the development of dementia by facilitating the entry of activated and infected monocytes, as well as potenti...

journal_title：Annals of neurology

authors： Conant K,McArthur JC,Griffin DE,Sjulson L,Wahl LM,Irani DN

更新日期：1999-09-01 00:00:00

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：OBJECTIVE:Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS:We reviewed 124 patients stra...

journal_title：Annals of neurology

authors： Swanson MA,Coughlin CR Jr,Scharer GH,Szerlong HJ,Bjoraker KJ,Spector EB,Creadon-Swindell G,Mahieu V,Matthijs G,Hennermann JB,Applegarth DA,Toone JR,Tong S,Williams K,Van Hove JL

更新日期：2015-10-01 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：OBJECTIVES:African Americans are at greater risk for developing Alzheimer's disease (AD) dementia than non-Hispanic whites. In addition to biological considerations (eg, genetic influences and comorbid disorders), social and environmental factors may increase the risk of AD dementia. This paper (1) assesses neuroimagin...

journal_title：Annals of neurology

authors： Meeker KL,Wisch JK,Hudson D,Coble D,Xiong C,Babulal GM,Gordon BA,Schindler SE,Cruchaga C,Flores S,Dincer A,Benzinger TL,Morris JC,Ances BM

更新日期：2021-02-01 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：OBJECTIVE:Compared to older Caucasians, older African Americans have higher risks of developing Alzheimer disease (AD) and lower cerebrospinal fluid (CSF) tau biomarker levels. It is not known whether tau-related differences begin earlier in life or whether race modifies other AD-related biomarkers such as inflammatory...

journal_title：Annals of neurology

authors： Wharton W,Kollhoff AL,Gangishetti U,Verble DD,Upadhya S,Zetterberg H,Kumar V,Watts KD,Kippels AJ,Gearing M,Howell JC,Parker MW,Hu WT

更新日期：2019-09-01 00:00:00

abstract：OBJECTIVE:We utilized the amyloid imaging ligand Pittsburgh Compound B (PiB) to determine the presence of Alzheimer's disease (AD) pathology in different mild cognitive impairment (MCI) subtypes and to relate increased PiB binding to other markers of early AD and longitudinal outcome. METHODS:Twenty-six patients with ...

journal_title：Annals of neurology

authors： Wolk DA,Price JC,Saxton JA,Snitz BE,James JA,Lopez OL,Aizenstein HJ,Cohen AD,Weissfeld LA,Mathis CA,Klunk WE,De-Kosky ST

更新日期：2009-05-01 00:00:00

abstract：:We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be...

journal_title：Annals of neurology

authors： Assmann B,Surtees R,Hoffmann GF

更新日期：2003-01-01 00:00:00

abstract：:We measured neurotransmitter markers in autopsied brain of infants with glycine encephalopathy (GE). Because patients with GE develop intractable seizures, special attention was devoted to those neurotransmitter systems implicated in human epilepsy. Mean levels of glycine in the frontal cortex of GE patients were thre...

journal_title：Annals of neurology

authors： Kish SJ,Dixon LM,Burnham WM,Perry TL,Becker L,Cheng J,Chang LJ,Rebbetoy M

更新日期：1988-09-01 00:00:00

abstract：:Nineteen patients aged 4 to 44 years with generalized epilepsy and generalized 3 Hz spike-and-wave activity, were monitored for 24 or 36 hours on one to nine occasions to determine the time distribution of ictal and interictal electroencephalographic discharges and the consistency of the time patterns observed. Two pa...

journal_title：Annals of neurology

authors： Kellaway P,Frost JD Jr,Crawley JW

更新日期：1980-11-01 00:00:00

abstract：OBJECTIVE:Loss of cerebral autoregulation (CA) plays a key role in secondary neurologic injury. However, the regional distribution of CA impairment after acute cerebral injury remains unclear because, in clinical practice, CA is only assessed within a limited compartment. Here, we performed large-scale regional mapping...

journal_title：Annals of neurology

authors： Hecht N,Schrammel M,Neumann K,Müller MM,Dreier JP,Vajkoczy P,Woitzik J

更新日期：2021-02-01 00:00:00

abstract：:We report a neurological disease among Cree Indian children in a northern Quebec village. The disease manifests as severe mental retardation, cerebral atrophy with white matter changes and calcifications, and systemic immunological abnormalities. Eleven cases are known in five families. The familial incidence of cases...

journal_title：Annals of neurology

authors： Black DN,Watters GV,Andermann E,Dumont C,Kabay ME,Kaplan P,Meagher-Villemure K,Michaud J,O'Gorman G,Reece E

更新日期：1988-10-01 00:00:00

abstract：OBJECTIVE:Epilepsy is a common neurological disorder characterized by recurrent seizures often unresponsive to pharmacological treatment. Brain inflammation is considered a crucial etiopathogenetic mechanism of epilepsy that could be targeted to control seizures. Specific inflammatory mediators overexpressed in human e...

journal_title：Annals of neurology

authors： Librizzi L,Noè F,Vezzani A,de Curtis M,Ravizza T

更新日期：2012-07-01 00:00:00

abstract：:Actin filaments in skin fibroblasts from patients with Huntington's disease (HD) were examined using immunofluorescent methods. Actin filaments were seen along the axis of cell elongation (stress or sheath filaments) as well as in areas of membrane ruffling (lattice filaments). In some cases, filaments appeared to rad...

journal_title：Annals of neurology

authors： Geary LE,Lazarides E,Goetz I,Roberts E

更新日期：1978-12-01 00:00:00

abstract：OBJECTIVE:Friedreich ataxia (FRDA), an autosomal recessive neurodegenerative disease caused by mutations in the gene encoding for the mitochondrial protein frataxin, is characterized by ataxia and gait instability, immobility, and eventual death. We evaluated corneal confocal microscopy (CCM) quantification of corneal ...

journal_title：Annals of neurology

authors： Pagovich OE,Vo ML,Zhao ZZ,Petropoulos IN,Yuan M,Lertsuwanroj B,Ciralsky J,Lai E,Kiss S,D'Amico DJ,Mezey JG,Malik RA,Crystal RG

更新日期：2018-12-01 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:The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the commonest hereditary neurodegenerative diseases. They are caused by expanded CAG tracts, encoding glutamine, in different genes. Longer CAG repeat tracts are associated with earlier ages ...

journal_title：Annals of neurology

authors： Bettencourt C,Hensman-Moss D,Flower M,Wiethoff S,Brice A,Goizet C,Stevanin G,Koutsis G,Karadima G,Panas M,Yescas-Gómez P,García-Velázquez LE,Alonso-Vilatela ME,Lima M,Raposo M,Traynor B,Sweeney M,Wood N,Giunti P,SPA

更新日期：2016-06-01 00:00:00

abstract：:A recent controlled clinical trial suggested a role for amantadine as a treatment for pathological gambling in patients with Parkinson disease (PD). Analyzing data from a large cross-sectional study of impulse control disorders (ICDs) in PD, amantadine use (n = 728), vs no amantadine use (n = 2,357), was positively as...

journal_title：Annals of neurology

authors： Weintraub D,Sohr M,Potenza MN,Siderowf AD,Stacy M,Voon V,Whetteckey J,Wunderlich GR,Lang AE

更新日期：2010-12-01 00:00:00

abstract：:Regional cerebral blood flow (rCBF) was measured in human subjects during saccadic eye movements by a 254-channel dynamic gamma camera. Focal rCBF increases were repeatedly observed in an area within the middle precentral and premotor regions which corresponds to the frontal eye field in humans. Our findings suggest t...

journal_title：Annals of neurology

authors： Melamed E,Larsen B

更新日期：1979-01-01 00:00:00

abstract：:There is increasing interest in the potential of dopamine agonists to provide a neuroprotective effect and to alter the natural course of levodopa-treated Parkinson's disease (PD). Theoretically, such a protective effect might derive from (a) a levodopa sparing effect, (b) stimulation dopamine autoreceptors resulting ...

journal_title：Annals of neurology

authors： Olanow CW,Jenner P,Brooks D

更新日期：1998-09-01 00:00:00

abstract：:This study quantitatively explored the dendritic/spine extent of supragranular pyramidal neurons across several cortical areas in two adult male subjects who had undergone a callosotomy several decades before death. In all cortical areas, there were numerous atypical, supragranular pyramidal neurons with elongated "ta...

journal_title：Annals of neurology

authors： Jacobs B,Creswell J,Britt JP,Ford KL,Bogen JE,Zaidel E

更新日期：2003-07-01 00:00:00

abstract：:Ultrasound scans of three newborn infants with cerebral ischemic lesions demonstrated on computed tomographic scan showed unexpected changes in echogenicity of brain parenchyma in addition to lateralized mass effect. Areas of increased echogenicity were present adjacent to regions of infarction identified on computed ...

journal_title：Annals of neurology

authors： Wilson-Davis SL,Lo W,Filly RA

更新日期：1983-08-01 00:00:00

abstract：:This report describes, for what may be only the second time, a ruptured miliary aneurysm within a cerebral hemorrhage. The report is unique in that the aneurysm has arisen at the site of a dissection within the wall of an arteriole at a site of fibrinoid necrosis. The case not only is a unique illustration of this pat...

journal_title：Annals of neurology

authors： Rosenblum WI

更新日期：2003-09-01 00:00:00

abstract：:Copper toxicity contributes to neuronal death in Wilson's disease and has been speculatively linked to the pathogenesis of Alzheimer's and prion diseases. We examined copper-induced neuronal death with the goal of developing neuroprotective strategies. Copper catalyzed an increase in hydroxyl radical generation in sol...

journal_title：Annals of neurology

authors： Sheline CT,Choi EH,Kim-Han JS,Dugan LL,Choi DW

更新日期：2002-08-01 00:00:00

abstract：:Biallelic DNAJC12 mutations were described in children with hyperphenylalaninemia, neurodevelopmental delay, and dystonia. We identified DNAJC12 homozygous null variants (c.187A>T;p.K63* and c.79-2A>G;p.V27Wfs*14) in two kindreds with early-onset parkinsonism. Both probands had mild intellectual disability, mild nonpr...

journal_title：Annals of neurology

authors： Straniero L,Guella I,Cilia R,Parkkinen L,Rimoldi V,Young A,Asselta R,Soldà G,Sossi V,Stoessl AJ,Priori A,Nishioka K,Hattori N,Follett J,Rajput A,Blau N,Pezzoli G,Farrer MJ,Goldwurm S,Rajput AH,Duga S

更新日期：2017-10-01 00:00:00

abstract：OBJECTIVE:Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS:Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) ...

journal_title：Annals of neurology

authors： Duncan ID,Bugiani M,Radcliff AB,Moran JJ,Lopez-Anido C,Duong P,August BK,Wolf NI,van der Knaap MS,Svaren J

更新日期：2017-05-01 00:00:00

abstract：:Calmodulin is a major Ca2+ -binding protein that may mediate many Ca2+ -regulated processes in neuronal function. Calmodulin is present in the presynaptic nerve terminal in association with synaptic vesicles and in postsynaptic density fractions. Several calmodulin-regulated synaptic biochemical processes have been id...

journal_title：Annals of neurology

authors： DeLorenzo RJ

更新日期：1984-01-01 00:00:00