T118M PMP22 mutation causes partial loss of function and HNPP-like neuropathy.

abstract：OBJECTIVE:A workgroup commissioned by the Alzheimer's Association (AA) and the National Institute on Aging (NIA) recently published research criteria for preclinical Alzheimer disease (AD). We performed a preliminary assessment of these guidelines. METHODS:We employed Pittsburgh compound B positron emission tomography...

journal_title：Annals of neurology

authors： Jack CR Jr,Knopman DS,Weigand SD,Wiste HJ,Vemuri P,Lowe V,Kantarci K,Gunter JL,Senjem ML,Ivnik RJ,Roberts RO,Rocca WA,Boeve BF,Petersen RC

更新日期：2012-06-01 00:00:00

abstract：:Although genome-wide association studies (GWAS) have proven remarkably effective at identifying reliably associated genetic variants, the biology underlying these discoveries is rarely immediately apparent and in most cases seems bound to require extensive fine mapping and functional analysis before it is revealed. In...

journal_title：Annals of neurology

authors： Sawcer S,Wason J

更新日期：2012-10-01 00:00:00

abstract：:Recent studies have indicated a normal gene dose for the amyloid precursor protein (APP) in Alzheimer's disease (AD). These findings leave open the possibility that elevated levels of messenger RNA (mRNA) for this protein may contribute to the pathogenesis of AD. Using Northern analysis, we compared the levels of mRNA...

journal_title：Annals of neurology

authors： Clark AW,Krekoski CA,Parhad IM,Liston D,Julien JP,Hoar DI

更新日期：1989-04-01 00:00:00

abstract：:We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe structures in patients with temporal lobe epilepsy [correction]. Uptake of 18F-fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory ...

journal_title：Annals of neurology

authors： Weintrob DL,Saling MM,Berkovic SF,Berlangieri SU,Reutens DC

更新日期：2002-04-01 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：:In 9 patients with progressive supranuclear palsy and in 27 controls, dopamine and homovanillic acid concentrations, choline acetyltransferase (CAT) activity, and the number of [3H]spiperone and [3H]quinuclidinyl benzilate binding sites were measured post mortem in the striatum (caudate nucleus, putamen, and nucleus a...

journal_title：Annals of neurology

authors： Ruberg M,Javoy-Agid F,Hirsch E,Scatton B,LHeureux R,Hauw JJ,Duyckaerts C,Gray F,Morel-Maroger A,Rascol A

更新日期：1985-11-01 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：: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：:An 18-year-old man with acne fulminans developed an acute inflammatory myositis, an association not previously reported. The condition resolved with treatment using systemic corticosteroids. ...

journal_title：Annals of neurology

authors： Noseworthy JH,Heffernan LP,Ross JB,Sangalang VE

更新日期：1980-07-01 00:00:00

abstract：OBJECTIVE:GM2 gangliosidoses are lysosomal diseases due to biallelic mutations in the HEXA (Tay-Sachs disease [TS]) or HEXB (Sandhoff disease [SD]) genes, with subsequent low hexosaminidase(s) activity. Most patients have childhood onset, but some experience the first symptoms during adolescence/adulthood. This study a...

journal_title：Annals of neurology

authors： Masingue M,Dufour L,Lenglet T,Saleille L,Goizet C,Ayrignac X,Ory-Magne F,Barth M,Lamari F,Mandia D,Caillaud C,Nadjar Y

更新日期：2020-04-01 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：OBJECTIVE:The objective of this study was to investigate the role of CD8+ CD25+ FoxP3+ cells during the course of multiple sclerosis (MS). METHODS:Peripheral blood and cerebrospinal fluid (CSF) CD8+ T-cell clones (TCCs) recognizing autoreactive CD4+ T cells were isolated from 20 MS patients during exacerbations, 15 pa...

journal_title：Annals of neurology

authors： Correale J,Villa A

更新日期：2010-05-01 00:00:00

abstract：:We performed dynamic [18F]fluorodeoxyglucose ([18F]FDG) positron emission tomographic (PET) analyses in 8 patients. Rate constants of influx (K1*), efflux (k2*), phosphorylation (k3*), and dephosphorylation (k4*) were derived for the regions of interest (ROIs), which included (1) the hypometabolic epileptogenic region...

journal_title：Annals of neurology

authors： Cornford EM,Gee MN,Swartz BE,Mandelkern MA,Blahd WH,Landaw EM,Delgado-Escueta AV

更新日期：1998-06-01 00:00:00

abstract：:We have developed a radioimmunoassay to measure a specific neurological component, the basic protein of myelin, and have used this test for assessing this component in spinal fluid. The levels of basic protein in spinal fluid correlate closely with the clinical activity of multiple sclerosis; therefore the test can be...

journal_title：Annals of neurology

authors： Cohen SR,Brooks BR,Herndon RM,McKhann GM

更新日期：1980-07-01 00:00:00

abstract：:Pyruvate dehydrogenase deficiency is a major cause of primary lactic acidosis and neurological dysfunction in infancy and early childhood. Most cases are caused by mutations in the X-linked gene for the E1alpha subunit of the complex. Mutations in DLAT, the gene encoding dihydrolipoamide acetyltransferase, the E2 core...

journal_title：Annals of neurology

authors： Head RA,Brown RM,Zolkipli Z,Shahdadpuri R,King MD,Clayton PT,Brown GK

更新日期：2005-08-01 00:00:00

abstract：:The mucopolysaccharidoses are caused by inherited deficiencies of lysosomal enzymes involved in the degradative pathway of glycosaminoglycans. Lysosomal storage leads to cellular and organ dysfunction, including mental retardation. Storage lesions are found throughout the diseased brain, but little is known about the ...

journal_title：Annals of neurology

authors： Heuer GG,Passini MA,Jiang K,Parente MK,Lee VM,Trojanowski JQ,Wolfe JH

更新日期：2002-12-01 00:00:00

abstract：:The in vivo demyelinating capacity of sera from 27 patients with Guillain-Barré syndrome (GBS) and 47 other individuals was studied by intraneural injection into rat sciatic nerves. The morphological features of the nerves in cross section taken just proximal to the site of needle insertion was assessed 48 hours after...

journal_title：Annals of neurology

authors： Saida T,Saida K,Lisak RP,Brown MJ,Silberberg DH,Asbury AK

更新日期：1982-01-01 00:00:00

abstract：OBJECTIVE:Alterations of the gut microbiome in Parkinson disease (PD) have been repeatedly demonstrated. However, little is known about whether such alterations precede disease onset and how they relate to risk and prodromal markers of PD. We investigated associations of these features with gut microbiome composition. ...

journal_title：Annals of neurology

authors： Heinzel S,Aho VTE,Suenkel U,von Thaler AK,Schulte C,Deuschle C,Paulin L,Hantunen S,Brockmann K,Eschweiler GW,Maetzler W,Berg D,Auvinen P,Scheperjans F

更新日期：2020-08-01 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：:It has been known for some time that patients with Parkinson's disease (PD) have difficulty executing simultaneous motor acts, yet the pathophysiology underlying this impairment remains uncertain. We examined the possibility that these dual-task deficits stem from defective sensorimotor mechanisms producing interferen...

journal_title：Annals of neurology

authors： Caligiuri MP,Heindel WC,Lohr JB

更新日期：1992-01-01 00:00:00

abstract：:Neuronal injury resulting from glutamate receptor-mediated excitotoxicity has been implicated in a wide spectrum of neurological disease states, including ischemia, central nervous system trauma, and some types of neurodegenerative diseases. Excitotoxicity may interact with other pathophysiological processes to enhanc...

journal_title：Annals of neurology

authors： Dugan LL,Choi DW

更新日期：1994-01-01 00:00:00

abstract：:The accuracy of a variety of finger and color confrontation tests in identifying chiasmal and optic nerve visual field defects was assessed in patients whose field defects had been established beforehand by a conventional achromatic kinetic technique on the Goldmann perimeter. Kinetic and static finger confrontation m...

journal_title：Annals of neurology

authors： Trobe JD,Acosta PC,Krischer JP,Trick GL

更新日期：1981-07-01 00:00:00

abstract：OBJECTIVE:Chronic, low-dose exposure to pesticides is suspected to increase the risk for Parkinson's disease (PD), but data are inconclusive. METHODS:We prospectively examined whether individuals exposed to pesticides have higher risk for PD than those not exposed. The study population comprised participants in the Ca...

journal_title：Annals of neurology

authors： Ascherio A,Chen H,Weisskopf MG,O'Reilly E,McCullough ML,Calle EE,Schwarzschild MA,Thun MJ

更新日期：2006-08-01 00:00:00

abstract：:The prevalence of migraine is much greater in female than male individuals. Cortical spreading depression (CSD) is thought to be a fundamental mechanism of migraine, and CSD in rodents is used as a model for migraine. We used optical intrinsic signal imaging and electrophysiological techniques to investigate CSD in C5...

journal_title：Annals of neurology

authors： Brennan KC,Romero Reyes M,López Valdés HE,Arnold AP,Charles AC

更新日期：2007-06-01 00:00:00

abstract：:A modified technique of isoelectric focusing on thin-layer polyacrylamide gel followed by immunofixation with monospecific antisera was used to identify individual cerebrospinal fluid (CSF) and serum proteins and to define the oligoclonal reaction observed in multiple sclerosis (MS). "Normal" IgG gave about 20 to 30 b...

journal_title：Annals of neurology

authors： Laurenzi MA,Mavra M,Kam-Hansen S,Link H

更新日期：1980-09-01 00:00:00

abstract：:Successful axon regeneration depends on the expression of regeneration-associated genes by axotomized neurons. Here, we demonstrate, for the first time to our knowledge, the expression of regeneration-associated genes by axotomized human CNS neurons. In situ hybridization and immunohistochemistry showed a transient in...

journal_title：Annals of neurology

authors： Schmitt AB,Breuer S,Polat L,Pech K,Kakulas B,Love S,Martin D,Schoenen J,Noth J,Brook GA

更新日期：2003-10-01 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：:Nineteen diabetic patients, 12 type I (insulin-dependent) and 7 type II (late-onset, non-insulin-dependent), underwent nocturnal polygraphic monitoring after a daytime medical evaluation that included tests of vagal responses and, in 6 patients, pulmonary function and hypercapnic and hypoxic responses. Five lean type ...

journal_title：Annals of neurology

authors： Mondini S,Guilleminault C

更新日期：1985-04-01 00:00:00

abstract：OBJECTIVE:Low vitamin D status at birth may be associated with risk of adult onset multiple sclerosis, but this link has not been studied directly. We assessed the relation between neonatal vitamin D concentrations, measured in stored blood samples, and risk of multiple sclerosis. METHODS:This was a population-based c...

journal_title：Annals of neurology

authors： Ueda P,Rafatnia F,Bäärnhielm M,Fröbom R,Korzunowicz G,Lönnerbro R,Hedström AK,Eyles D,Olsson T,Alfredsson L

更新日期：2014-09-01 00:00:00

abstract：:Patients with the acquired immunodeficiency syndrome (AIDS) commonly display evidence of gross cerebral atrophy, but its true incidence and pathophysiology in the general AIDS population are unknown. In this study, we measured cerebrospinal fluid (CSF) spaces in 64 consecutively autopsied patients with AIDS, compared ...

journal_title：Annals of neurology

authors： Gelman BB,Guinto FC Jr

更新日期：1992-07-01 00:00:00