abstract：:N-acetylaspartate (NAA) contributes to the most prominent signal in proton magnetic resonance spectroscopy (1H-MRS) of the adult human brain. We report the absence of NAA in the brain of a 3-year-old child with neurodevelopmental retardation and moderately delayed myelination. Since normal concentration of NAA in body...

journal_title：Annals of neurology

authors： Martin E,Capone A,Schneider J,Hennig J,Thiel T

更新日期：2001-04-01 00:00:00

abstract：:Few studies evaluate neuropathological correlates of behavioral changes in Alzheimer disease (AD). We identified 31 autopsy patients with a diagnosis of definite AD. Behavioral changes were assessed with the Neuropsychiatric Inventory. Brain sections were collected from bilateral orbitofrontal and left anterior cingul...

journal_title：Annals of neurology

authors： Tekin S,Mega MS,Masterman DM,Chow T,Garakian J,Vinters HV,Cummings JL

更新日期：2001-03-01 00:00:00

abstract：:Cerebral blood flow velocity (CBF-V) measured by transcranial doppler was assessed in 628 elderly individuals who had cerebral magnetic resonance imaging performed as part of a population-based study on vascular aging. Cerebral white matter hyperintensities (WMHs) were associated with low CBF-V, such as the adjusted o...

journal_title：Annals of neurology

authors： Tzourio C,Lévy C,Dufouil C,Touboul PJ,Ducimetière P,Alpérovitch A

更新日期：2001-03-01 00:00:00

abstract：:Layer II of the entorhinal cortex contains the cells of origin for the perforant path, plays a critical role in memory processing, and consistently degenerates in end-stage Alzheimer's disease. The extent to which neuron loss in layer II of entorhinal cortex is related to mild cognitive impairment without dementia has...

journal_title：Annals of neurology

authors： Kordower JH,Chu Y,Stebbins GT,DeKosky ST,Cochran EJ,Bennett D,Mufson EJ

更新日期：2001-02-01 00:00:00

abstract：:We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a sin...

journal_title：Annals of neurology

authors： Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GA

更新日期：2001-02-01 00:00:00

abstract：:Two recent case-control studies have suggested a strong association of a missense polymorphism in exon 2 of the cathepsin D gene (CTSD) and Alzheimer disease (AD). However, these findings were not confirmed in another independent study. We analyzed this polymorphism in two large and independent AD study populations an...

journal_title：Annals of neurology

authors： Bertram L,Guénette S,Jones J,Keeney D,Mullin K,Crystal A,Basu S,Yhu S,Deng A,Rebeck GW,Hyman BT,Go R,McInnis M,Blacker D,Tanzi R

更新日期：2001-01-01 00:00:00

abstract：:To define the molecular mechanisms underlying amphetamine (AMPH) neurotoxicity, primary cultures of dopaminergic neurons were examined for drug-induced changes in dopamine (DA) distribution, oxidative stress, protein damage, and cell death. As in earlier studies, AMPH rapidly redistributed vesicular DA to the cytoplas...

journal_title：Annals of neurology

authors： Lotharius J,O'Malley KL

更新日期：2001-01-01 00:00:00

abstract：:Pain and other phantom limb (PL) sensations have been proposed to be generated in the brain and to be reflected in activation of specific neural circuits. To test this hypothesis, hypnosis was used as a cognitive tool to alternate between the sensation of PL movement and pain in 8 amputees. Brain activity was measured...

journal_title：Annals of neurology

authors： Willoch F,Rosen G,Tölle TR,Oye I,Wester HJ,Berner N,Schwaiger M,Bartenstein P

更新日期：2000-12-01 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：:Mitochondria are cellular organelles crucial for energy supply and calcium homeostasis in neuronal cells, and their dysfunction causes seizure activity in some rare human epilepsies. To directly test whether mitochondrial respiratory chain enzymes are abnormal in the most common form of chronic epilepsy, temporal lobe...

journal_title：Annals of neurology

authors： Kunz WS,Kudin AP,Vielhaber S,Blümcke I,Zuschratter W,Schramm J,Beck H,Elger CE

更新日期：2000-11-01 00:00:00

abstract：:Intranuclear inclusions are one of the ultrastructural hallmarks of oculopharyngeal muscular dystrophy (OPMD), a disorder caused by small polyalanine (GCG) expansions in the gene that codes for a ubiquitous nuclear protein called poly(A) binding protein 2 (PABP2). We studied OPMD skeletal muscle and found that 1.0 to ...

journal_title：Annals of neurology

authors： Becher MW,Kotzuk JA,Davis LE,Bear DG

更新日期：2000-11-01 00:00:00

abstract：:Progressive cerebral deposition of amyloid-beta (Abeta) peptide, an early and essential feature of Alzheimer's disease (AD), is accompanied by an inflammatory reaction marked by microgliosis, astrocytosis, and the release of proinflammatory cytokines. Mucosal administration of disease-implicated proteins can induce an...

journal_title：Annals of neurology

authors： Weiner HL,Lemere CA,Maron R,Spooner ET,Grenfell TJ,Mori C,Issazadeh S,Hancock WW,Selkoe DJ

更新日期：2000-10-01 00:00:00

abstract：:A patient with an intracranial hemorrhage showed differential impairment among arithmetic types (impaired in multiplication but not in subtraction). A functional magnetic resonance imaging (fMRI) experiment using normal volunteers also revealed a differential activation between the two arithmetic types. The fMRI resul...

journal_title：Annals of neurology

authors： Lee KM

更新日期：2000-10-01 00:00:00

abstract：:Disorders of neuronal migration in cerebral cortex are associated with neurological impairments, including mental retardation and epilepsy. Their causes and pathophysiology remain largely unknown, however. In patients with Zellweger disease, a lethal panperoxisomal disorder, and in mice lacking the Pxr1 import recepto...

journal_title：Annals of neurology

authors： Gressens P,Baes M,Leroux P,Lombet A,Van Veldhoven P,Janssen A,Vamecq J,Marret S,Evrard P

更新日期：2000-09-01 00:00:00

abstract：:The detection of 14-3-3 protein by Western immunoblot is a sensitive and specific cerebrospinal fluid marker of Creutzfeldt-Jakob disease (CJD). We developed a quantitative enzyme-linked immunosorbent assay (ELISA) that reliably detects 14-3-3 in cerebrospinal fluid. In a prospective study of 147 cerebrospinal fluid s...

journal_title：Annals of neurology

authors： Kenney K,Brechtel C,Takahashi H,Kurohara K,Anderson P,Gibbs CJ Jr

更新日期：2000-09-01 00:00:00

abstract：:We measured brain acetylcholinesterase activity in 30 patients with Alzheimer's disease (AD) and 14 age-matched controls by positron emission tomography (PET) and using a carbon 11-labeled acetylcholine analogue. Seven AD patients had repeat PET scans. The k3 values were calculated as an index of acetylcholinesterase ...

journal_title：Annals of neurology

authors： Shinotoh H,Namba H,Fukushi K,Nagatsuka S,Tanaka N,Aotsuka A,Ota T,Tanada S,Irie T

更新日期：2000-08-01 00:00:00

abstract：:We describe a new cause of spinal cord ischemia illustrated by two cases--compression by the diaphragmatic crus of a lumbar artery giving rise to a spinal artery. The diagnosis has been established by dynamic spinal angiography, showing complete occlusion of the lumbar artery. Surgical section of the diaphragmatic cru...

journal_title：Annals of neurology

authors： Rogopoulos A,Benchimol D,Paquis P,Mahagne MH,Bourgeon A

更新日期：2000-08-01 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：:The authors report on a series of spontaneous intracranial hemorrhages associated with vein of Galen aneurysmal malformations (VGAMs). Thirty-four children with VGAMs have been treated at this institution since 1986. Eight children (24%) harbored the mural-type malformation, and 26 (76%) had the choroidal-type lesion....

journal_title：Annals of neurology

authors： Meyers PM,Halbach VV,Phatouros CP,Dowd CF,Malek AM,Lempert TE,Lefler JE,Higashida RT

更新日期：2000-06-01 00:00:00

abstract：:To understand the pathogenesis of human immunodeficiency virus-induced neuropathology, it is critical to know the dynamics of viral replication in the central nervous system. Viral decay kinetics were mathematically analyzed from multiple serial specimens of ventricular cerebrospinal fluid and plasma during antiretrov...

journal_title：Annals of neurology

authors： Eggers C,Stuerenburg HJ,Schafft T,Zöllner B,Feucht HH,Stellbrink HJ,van Lunzen J

更新日期：2000-06-01 00:00:00

abstract：:Hereditary canine spinal muscular atrophy (HCSMA) features rapidly progressive muscle weakness that affects muscles in an apparent proximal-to-distal gradient. In the medial gastrocnemius (MG) muscle of homozygous HCSMA animals, motor unit tetanic failure is apparent before the appearance of muscle weakness and appear...

journal_title：Annals of neurology

authors： Balice-Gordon RJ,Smith DB,Goldman J,Cork LC,Shirley A,Cope TC,Pinter MJ

更新日期：2000-05-01 00:00:00

abstract：:Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor conce...

journal_title：Annals of neurology

authors： Wilson RB,Lynch DR,Farmer JM,Brooks DG,Fischbeck KH

更新日期：2000-05-01 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：:Although the basal ganglia have been implicated in the development of movement disorders since the 1940s, the exact role played by these structures has remained elusive. The development of the 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-monkey model of parkinsonism, and the recent resurgence of surgical therapy for t...

journal_title：Annals of neurology

authors： Vitek JL,Giroux M

更新日期：2000-04-01 00:00:00

abstract：:The effect of focal ischemia on tissue pH was studied at various times up to 6 hours after permanent middle cerebral artery occlusion in rats. Tissue pH was imaged by using umbelliferone fluorescence and correlated with cerebral blood flow, ATP content, and recordings of the steady potential. Circumscribed foci of all...

journal_title：Annals of neurology

authors： Back T,Hoehn M,Mies G,Busch E,Schmitz B,Kohno K,Hossmann KA

更新日期：2000-04-01 00:00:00

abstract：:We describe the first non-Ashkenazi patient with adult polyglucosan body disease and decreased glycogen-branching enzyme (GBE) activity in leukocytes. Gene analysis revealed compound heterozygosity for two novel missense mutations Arg515His and Arg524Gln in the GBE gene. Both missense mutations are predicted to impair...

journal_title：Annals of neurology

authors： Ziemssen F,Sindern E,Schröder JM,Shin YS,Zange J,Kilimann MW,Malin JP,Vorgerd M

更新日期：2000-04-01 00:00:00

abstract：:GM1b is a minor ganglioside in human peripheral nerves. Serum anti-GM1b antibodies frequently are present in patients with Guillain-Barré syndrome (GBS). In this collaborative study, we investigated the antecedent infections, clinical features, and response to treatment of GBS patients with anti-GM1b antibodies. Of 13...

journal_title：Annals of neurology

authors： Yuki N,Ang CW,Koga M,Jacobs BC,van Doorn PA,Hirata K,van der Meché FG

更新日期：2000-03-01 00:00:00

abstract：:To explore the concept that dystonia may result from dysfunction of the sensory system, 14 patients with focal hand dystonia were tested during two somatosensory discrimination tasks. Compared with controls, patients had a higher threshold in a task involving discrimination of two electric stimuli closely related temp...

journal_title：Annals of neurology

authors： Bara-Jimenez W,Shelton P,Sanger TD,Hallett M

更新日期：2000-03-01 00:00:00

abstract：:The objective of this study was to assess which features of temporal lobe proton magnetic resonance spectroscopic imaging (1H-MRSI) are associated with satisfactory surgical outcome in patients with intractable temporal lobe epilepsy and bilateral hippocampal atrophy. We studied 21 patients with intractable temporal l...

journal_title：Annals of neurology

authors： Li LM,Cendes F,Antel SB,Andermann F,Serles W,Dubeau F,Olivier A,Arnold DL

更新日期：2000-02-01 00:00:00

abstract：:Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is defici...

journal_title：Annals of neurology

authors： Berry-Kravis E,Sleat DE,Sohar I,Meyer P,Donnelly R,Lobel P

更新日期：2000-02-01 00:00:00

abstract：:Although the carbonic anhydrase inhibitors have been used in the treatment of the primary periodic paralyses (PPs), their efficacy has not been demonstrated in double-blind, placebo-controlled trials. Therefore, we tested the efficacy of dichlorphenamide (DCP; Daranide), a potent carbonic anhydrase inhibitor, in the t...

journal_title：Annals of neurology

authors： Tawil R,McDermott MP,Brown R Jr,Shapiro BC,Ptacek LJ,McManis PG,Dalakas MC,Spector SA,Mendell JR,Hahn AF,Griggs RC

更新日期：2000-01-01 00:00:00

abstract：:The phenotype of severe congenital hydrocephalus secondary to neural cell adhesion molecule L1 (L1CAM) gene mutations includes the distinct finding of brainstem corticospinal tract hypoplasia. Using diffusion-weighted imaging (DWI), we failed to demonstrate anisotropy in the corticospinal tracts of the basis pontis in...

journal_title：Annals of neurology

authors： Graf WD,Born DE,Shaw DW,Thomas JR,Holloway LW,Michaelis RC

更新日期：2000-01-01 00:00:00

abstract：:There are no established treatments for patients with acute, severe neurological deficits caused by multiple sclerosis or other inflammatory demyelinating diseases of the central nervous system who fail to recover after treatment with high-dose corticosteroids. We conducted a randomized, sham-controlled, double-masked...

journal_title：Annals of neurology

authors： Weinshenker BG,O'Brien PC,Petterson TM,Noseworthy JH,Lucchinetti CF,Dodick DW,Pineda AA,Stevens LN,Rodriguez M

更新日期：1999-12-01 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：:A 71-year-old woman presented with a short history of episodes of severe left-sided orbital and temporal pain in paroxysms lasting 60 to 90 seconds, and accompanied by ipsilateral lacrimation of the eye, rhinorrhea, and conjunctival injection. Results of clinical examination and structural imaging were normal and a cl...

journal_title：Annals of neurology

authors： May A,Bahra A,Büchel C,Turner R,Goadsby PJ

更新日期：1999-11-01 00:00:00

abstract：:The object of this study was to determine the concordance of the anatomical location of interictal magnetoencephalographic (MEG) spike foci with the location of ictal onset zones identified by invasive ictal intracranial electroencephalographic recordings in children undergoing evaluation for epilepsy surgery. MEG was...

journal_title：Annals of neurology

authors： Minassian BA,Otsubo H,Weiss S,Elliott I,Rutka JT,Snead OC 3rd

更新日期：1999-10-01 00:00:00

abstract：:Benign familial neonatal convulsions (BFNC) is a rare dominantly inherited epileptic syndrome characterized by frequent brief seizures within the first days of life. The disease is caused by mutations in one of two recently identified voltage-gated potassium channel genes, KCNQ2 or KCNQ3. Here, we describe a four-gene...

journal_title：Annals of neurology

authors： Lerche H,Biervert C,Alekov AK,Schleithoff L,Lindner M,Klinger W,Bretschneider F,Mitrovic N,Jurkat-Rott K,Bode H,Lehmann-Horn F,Steinlein OK

更新日期：1999-09-01 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：:Mutations of SURF-1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. To investigate to what extent SURF-1 is responsible for human disor...

journal_title：Annals of neurology

authors： Tiranti V,Jaksch M,Hofmann S,Galimberti C,Hoertnagel K,Lulli L,Freisinger P,Bindoff L,Gerbitz KD,Comi GP,Uziel G,Zeviani M,Meitinger T

更新日期：1999-08-01 00:00:00

abstract：:Splice-site and missense mutations have been identified in tau associated with frontotemporal dementia with parkinsonism linked to chromosome 17. In this study we assessed the genetic contribution of tau mutations to three patient series with non-Alzheimer's (non-AD) degenerative dementia. The groups included (1) a co...

journal_title：Annals of neurology

authors： Houlden H,Baker M,Adamson J,Grover A,Waring S,Dickson D,Lynch T,Boeve B,Petersen RC,Pickering-Brown S,Owen F,Neary D,Craufurd D,Snowden J,Mann D,Hutton M

更新日期：1999-08-01 00:00:00