Low CSF protein concentration in idiopathic pseudotumor cerebri.

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：:Most neurodegenerative disorders are thought to result primarily from the accumulation of misfolded proteins, which interfere with protein homeostasis in neurons. For a subset of diseases, however, noncoding regions of RNAs assume a primary toxic gain-of-function, leading to degeneration in many tissues, including the...

journal_title：Annals of neurology

authors： Todd PK,Paulson HL

更新日期：2010-03-01 00:00:00

abstract：:Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...

journal_title：Annals of neurology

authors： Obici L,Demarchi A,de Rosa G,Bellotti V,Marciano S,Donadei S,Arbustini E,Palladini G,Diegoli M,Genovese E,Ferrari G,Coverlizza S,Merlini G

更新日期：2005-10-01 00:00:00

abstract：:An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age she has severe developmental delay, a strikingly abnormal MRI. Apolip...

journal_title：Annals of neurology

authors： Wilson CJ,Priore Oliva C,Maggi F,Catapano AL,Calandra S

更新日期：2003-06-01 00:00:00

abstract：:A 65-year-old woman with normal pressure hydrocephalus experienced improved gait and hydrocephalus following surgical resection of a cauda equina neurinoma. Fibrinogen, detected in the cerebrospinal fluid, may be involved in the pathophysiological process of normal pressure hydrocephalus. ...

journal_title：Annals of neurology

authors： Ohta K,Gotoh F,Amano T,Obara K

更新日期：1990-04-01 00:00:00

abstract：OBJECTIVE:Gut microbiome alterations in Parkinson disease (PD) have been reported repeatedly, but their functional relevance remains unclear. Fecal metabolomics, which provide a functional readout of microbial activity, have scarcely been investigated. We investigated fecal microbiome and metabolome alterations in PD, ...

journal_title：Annals of neurology

authors： Tan AH,Chong CW,Lim SY,Yap IKS,Teh CSJ,Loke MF,Song SL,Tan JY,Ang BH,Tan YQ,Kho MT,Bowman J,Mahadeva S,Yong HS,Lang AE

更新日期：2020-12-03 00:00:00

abstract：:Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in m...

journal_title：Annals of neurology

authors： Nuwer MR,Perlman SL,Packwood JW,Kark RA

更新日期：1983-01-01 00:00:00

abstract：:The mechanism by which iron enters the central nervous system from the blood is not well understood. Iron in blood plasma is totally bound to transferrin (Tf), a major plasma glycoprotein. Tf receptors are present on the blood-brain barrier (BBB) endothelium. It is not known whether iron separates from Tf during its p...

journal_title：Annals of neurology

authors： Roberts R,Sandra A,Siek GC,Lucas JJ,Fine RE

更新日期：1992-01-01 00:00:00

abstract：OBJECTIVE:Determining if traumatic brain injury (TBI) and post-traumatic stress disorder (PTSD) are risk factors for Parkinson's disease (PD). This constitutes a research priority for the Veterans Administration (VA) with implications for screening policy and prevention. METHODS:Population-based, matched case-control ...

journal_title：Annals of neurology

authors： White DL,Kunik ME,Yu H,Lin HL,Richardson PA,Moore S,Sarwar AI,Marsh L,Jorge RE

更新日期：2020-07-01 00:00:00

abstract：:Phosphorus magnetic resonance spectra of resting muscle were obtained from 4 patients with alternating hemiplegia of childhood. All patients had abnormally high resonance intensities from inorganic phosphate and an abnormally low calculated cytosolic phosphorylation potential. Two of the 4 patients had abnormally low ...

journal_title：Annals of neurology

authors： Arnold DL,Silver K,Andermann F

更新日期：1993-06-01 00:00:00

abstract：:To determine whether the association of the very low density lipoprotein receptor (VLDL-R) gene with Alzheimer's disease (AD), which has recently been identified in Japanese AD patients, is commonly observed in AD patients of other ethnic backgrounds, we have investigated the allele frequency of the polymorphic CGG re...

journal_title：Annals of neurology

authors： Okuizumi K,Onodera O,Seki K,Tanaka H,Namba Y,Ikeda K,Saunders AM,Pericak-Vance MA,Roses AD,Tsuji S

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVE:To determine whether glatiramer acetate (GA) slows accumulation of disability in primary progressive multiple sclerosis. METHODS:A total of 943 patients with primary progressive multiple sclerosis were randomized to GA or placebo (PBO) in this 3-year, double-blind trial. The primary end point was an intentio...

journal_title：Annals of neurology

authors： Wolinsky JS,Narayana PA,O'Connor P,Coyle PK,Ford C,Johnson K,Miller A,Pardo L,Kadosh S,Ladkani D,PROMiSe Trial Study Group.

更新日期：2007-01-01 00:00:00

abstract：:Patients with multiple sclerosis (MS) frequently have selective depletion of the CD45R+CD4+ T-cell subset during active phases of disease. To study the relationship between changes in this subset and the onset of objective clinical exacerbations of disease, a longitudinal study was undertaken. Two CD4+ T-cell subsets ...

journal_title：Annals of neurology

authors： Rose LM,Ginsberg AH,Rothstein TL,Ledbetter JA,Clark EA

更新日期：1988-08-01 00:00:00

abstract：:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of th...

journal_title：Annals of neurology

authors： Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini E

更新日期：1997-10-01 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：:Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of...

journal_title：Annals of neurology

authors： Chiappa KH,Harrison JL,Brooks EB,Young RR

更新日期：1980-02-01 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：:The possibility of detecting acute hypoxic-ischemic brain lesions by prenatal magnetic resonance imaging or ultrasound is low. We present a case of a fetus with a vein of Galen arteriovenous malformation in whom prenatal diffusion-weighted magnetic resonance imaging at 33 weeks of gestation clearly detected cerebral a...

journal_title：Annals of neurology

authors： Baldoli C,Righini A,Parazzini C,Scotti G,Triulzi F

更新日期：2002-08-01 00:00:00

abstract：:The long-term effects of brief but repetitive febrile seizures (FS) on memory have not been as thoroughly investigated as the impact of single and prolonged seizure in the developing brain. Using a heated-air FS paradigm, we subjected male rat pups to one, three, or nine episodes of brief FS on days 10 to 12 postpartu...

journal_title：Annals of neurology

authors： Chang YC,Huang AM,Kuo YM,Wang ST,Chang YY,Huang CC

更新日期：2003-12-01 00:00:00

abstract：:We here report the second and third mutations in alphaB-crystallin causing myofibrillar myopathy. Two patients had adult-onset muscle weakness. Patient 1 had cervical, limb girdle, and respiratory muscle weakness and died of respiratory failure. Patient 2 had proximal and distal leg muscle weakness. Both had myopathic...

journal_title：Annals of neurology

authors： Selcen D,Engel AG

更新日期：2003-12-01 00:00:00

abstract：OBJECTIVE:Paroxysmal hemicrania (PH) is a severe, strictly unilateral headache that lasts 2 to 30 minutes, occurs more than five times daily, is associated with trigeminal autonomic symptoms, and is exquisitely responsive to indomethacin. The purpose of the study was to determine the brain structures active in PH. MET...

journal_title：Annals of neurology

authors： Matharu MS,Cohen AS,Frackowiak RS,Goadsby PJ

更新日期：2006-03-01 00:00:00

abstract：:A series of nine related aromatic monocarboxylic acids (ACAs) previously shown to inhibit muscle membrane chloride conductance (GCl) selectively in the rat were studied for their ability to produce myotonia. All nine induced characteristic repetitive electrical activity and delayed relaxation in isolated muscle, altho...

journal_title：Annals of neurology

authors： Furman RE,Barchi RL

更新日期：1978-10-01 00:00:00

abstract：:After unilateral cortical lesions in neonatal rats, the spared unablated hemisphere is known to demonstrate remarkable neuroanatomical plasticity in corticofugal connectivity. This same type of structural plasticity is not seen after similar lesions in adult rats. One possibility for the lack of such a plastic respons...

journal_title：Annals of neurology

authors： Kartje GL,Schulz MK,Lopez-Yunez A,Schnell L,Schwab ME

更新日期：1999-06-01 00:00:00

abstract：:We present the clinicopathological features of two siblings from a consanguineous marriage who presented with respiratory hypoventilation and died 10 days and 4 years later, respectively. This disorder showed extensive tau neuropathology, and both had a novel homozygous S352L tau gene mutation. This is the first descr...

journal_title：Annals of neurology

authors： Nicholl DJ,Greenstone MA,Clarke CE,Rizzu P,Crooks D,Crowe A,Trojanowski JQ,Lee VM,Heutink P

更新日期：2003-11-01 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：OBJECTIVE:Nemaline myopathy (NM) is one of the most common congenital nondystrophic myopathies and is characterized by muscle weakness, often from birth. Mutations in ACTA1 are a frequent cause of NM (ie, NEM3). ACTA1 encodes alpha-actin 1, the main constituent of the sarcomeric thin filament. The mechanisms by which m...

journal_title：Annals of neurology

authors： Joureau B,de Winter JM,Conijn S,Bogaards SJP,Kovacevic I,Kalganov A,Persson M,Lindqvist J,Stienen GJM,Irving TC,Ma W,Yuen M,Clarke NF,Rassier DE,Malfatti E,Romero NB,Beggs AH,Ottenheijm CAC

更新日期：2018-02-01 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：:We report a patient with a meningioma presenting with Cushing's syndrome, an unprecedented paraneoplastic presentation. Molecular studies, bioassay, and high-performance liquid chromatography of tumor specimens demonstrated the synthesis and secretion of bioactive corticotropin-releasing hormone. To our knowledge, thi...

journal_title：Annals of neurology

authors： Pecori Giraldi F,Terreni MR,Andreotti C,Losa M,Lanzi R,Pontiroli AE,Cavagnini F

更新日期：2003-01-01 00:00:00

abstract：:Thirty patients in whom the initial diagnosis of multiple sclerosis was clinically entertained underwent cranial magnetic resonance imaging (MRI) in close temporal relationship to cranial x-ray computed tomography (CT), electrodiagnostic studies (visual evoked responses, brainstem auditory evoked responses, and somato...

journal_title：Annals of neurology

authors： Gebarski SS,Gabrielsen TO,Gilman S,Knake JE,Latack JT,Aisen AM

更新日期：1985-05-01 00:00:00

abstract：OBJECTIVE:The study was undertaken to determine whether normobaric hypoxia causes elevated brain volume and intracranial pressure in individuals with symptoms consistent with acute mountain sickness (AMS). METHODS:Thirteen males age = (26 (sd 6)) years were exposed to normobaric hypoxia (12% O2 ) and normoxia (21% O2 ...

journal_title：Annals of neurology

authors： Lawley JS,Alperin N,Bagci AM,Lee SH,Mullins PG,Oliver SJ,Macdonald JH

更新日期：2014-06-01 00:00:00