Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination.

abstract：:alpha 1-Antichymotrypsin (ACT) is a serine protease inhibitor that is markedly elevated in the serum and cerebrospinal fluid of patients with Alzheimer's disease (AD). Patients with Down's syndrome are known to develop neuropathological changes of AD by age 40 years and many become demented. Therefore, in the present ...

journal_title：Annals of neurology

authors： Brugge K,Katzman R,Hill LR,Hansen LA,Saitoh T

更新日期：1992-08-01 00:00:00

abstract：OBJECTIVE:Neuronal loss, a key substrate of irreversible disability in multiple sclerosis (MS), is a recognized feature of MS cortical pathology of which the cause remains unknown. Fibrin(ogen) deposition is neurotoxic in animal models of MS, but has not been evaluated in human progressive MS cortex. The aim of this st...

journal_title：Annals of neurology

authors： Yates RL,Esiri MM,Palace J,Jacobs B,Perera R,DeLuca GC

更新日期：2017-08-01 00:00:00

abstract：OBJECTIVE:Ischemic injury of axons is a feature of periventricular leukomalacia, a pathological correlate of cerebral palsy. Recent evidence suggests that axons are damaged before they receive the first layer of compact myelin. Here we examine the cellular mechanisms underlying ischemic-type injury of premyelinated cen...

journal_title：Annals of neurology

authors： Alix JJ,Fern R

更新日期：2009-11-01 00:00:00

abstract：:Three-dimensional (volume) magnetic resonance angiography is a noninvasive technique that images the intracranial and cervical arterial vasculature without contrast agents. Twenty-four children with strokes had combined parenchymal magnetic resonance imaging and magnetic resonance angiography 1 day to 4 years after ac...

journal_title：Annals of neurology

authors： Wiznitzer M,Masaryk TJ

更新日期：1991-06-01 00:00:00

abstract：:Reductions in cerebral metabolism sufficient to impair cognition in normal individuals also occur in Alzheimer's disease (AD). The degree of clinical disability in AD correlates closely to the magnitude of the reduction in brain metabolism. Therefore, we tested whether impairments in tricarboxylic acid (TCA) cycle enz...

journal_title：Annals of neurology

authors： Bubber P,Haroutunian V,Fisch G,Blass JP,Gibson GE

更新日期：2005-05-01 00:00:00

abstract：OBJECTIVE:We examined the sarcolemma of skeletal muscle from patients with facioscapulohumeral muscular dystrophy (FSHD1A) to learn if, as in other murine and human muscular dystrophies, its organization and relationship to nearby contractile structures are altered. METHODS:Unfixed biopsies of control and FSHD deltoid...

journal_title：Annals of neurology

authors： Reed P,Porter NC,Strong J,Pumplin DW,Corse AM,Luther PW,Flanigan KM,Bloch RJ

更新日期：2006-02-01 00:00:00

abstract：:The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (d...

journal_title：Annals of neurology

authors： Dibbens LM,Reid CA,Hodgson B,Thomas EA,Phillips AM,Gazina E,Cromer BA,Clarke AL,Baram TZ,Scheffer IE,Berkovic SF,Petrou S

更新日期：2010-04-01 00:00:00

abstract：OBJECTIVE:Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the c...

journal_title：Annals of neurology

authors： Moawia A,Shaheen R,Rasool S,Waseem SS,Ewida N,Budde B,Kawalia A,Motameny S,Khan K,Fatima A,Jameel M,Ullah F,Akram T,Ali Z,Abdullah U,Irshad S,Höhne W,Noegel AA,Al-Owain M,Hörtnagel K,Stöbe P,Baig SM,Nürnberg P

更新日期：2017-10-01 00:00:00

abstract：OBJECTIVE:To test the hypothesis that variability in SNCA Rep1, a polymorphic dinucleotide microsatellite in the promoter region of the gene encoding α-synuclein, modifies the association between head injury and Parkinson's disease (PD) risk. METHODS:Participants in the Farming and Movement Evaluation (FAME) and the S...

journal_title：Annals of neurology

authors： Goldman SM,Kamel F,Ross GW,Jewell SA,Bhudhikanok GS,Umbach D,Marras C,Hauser RA,Jankovic J,Factor SA,Bressman S,Lyons KE,Meng C,Korell M,Roucoux DF,Hoppin JA,Sandler DP,Langston JW,Tanner CM

更新日期：2012-01-01 00:00:00

abstract：OBJECTIVE:To identify brain regions, cell types, or both that generate abnormal electrical discharge in tuberous sclerosis complex (TSC). Here we examined excitatory and inhibitory synaptic currents in human tissue samples obtained from a TSC patient with no discernible cortical tubers and acute neocortical brain slice...

journal_title：Annals of neurology

authors： Wang Y,Greenwood JS,Calcagnotto ME,Kirsch HE,Barbaro NM,Baraban SC

更新日期：2007-02-01 00:00:00

abstract：:A young woman with Kearns-Sayre syndrome and progressive central nervous system deterioration over 15 years had decreased plasma and cerebrospinal fluid folate levels while receiving phenytoin for a seizure disorder. A muscle biopsy showed a "ragged red fiber" myopathy with reduced muscle carnitine and mitochondrial e...

journal_title：Annals of neurology

authors： Allen RJ,DiMauro S,Coulter DL,Papadimitriou A,Rothenberg SP

更新日期：1983-06-01 00:00:00

abstract：:Using two-color flow cytometric analysis, we studied peripheral blood lymphocyte subsets in 15 patients with human T-cell lymphotropic virus type I-associated myelopathy. The percentage of CD4+ 4B4+ cells (helper inducer T cell) was significantly increased in the patients with the myelopathy, compared with 16 healthy ...

journal_title：Annals of neurology

authors： Itoyama Y,Kira J,Fujii N,Goto I,Yamamoto N

更新日期：1989-08-01 00:00:00

abstract：:Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromoso...

journal_title：Annals of neurology

authors： Ikeuchi T,Koide R,Tanaka H,Onodera O,Igarashi S,Takahashi H,Kondo R,Ishikawa A,Tomoda A,Miike T

更新日期：1995-06-01 00:00:00

abstract：:We examined spinal cords, nerve roots, or peripheral nerves of 27 patients who died with acquired immunodeficiency syndrome (AIDS) for the presence of cytomegalovirus (CMV) and human immunodeficiency virus (HIV) by immunoperoxidase techniques in paraffin-embedded tissue. Vacuolar myelopathy was seen in 8 of 26 spinal ...

journal_title：Annals of neurology

authors： Grafe MR,Wiley CA

更新日期：1989-06-01 00:00:00

abstract：OBJECTIVE:Limited evidence is available to guide treatment of depression for persons with epilepsy. We evaluated the comparative effectiveness of sertraline and cognitive behavior therapy (CBT) for depression, quality of life, seizures, and adverse treatment effects. METHODS:We randomly assigned 140 adult outpatients ...

journal_title：Annals of neurology

authors： Gilliam FG,Black KJ,Carter J,Freedland KE,Sheline YI,Tsai WY,Lustman PJ

更新日期：2019-10-01 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：:Two patients with biopsy-proved progressive multifocal leukoencephalopathy (PML) were treated with near-maximal doses of adenine arabinoside (Ara-A), 18.6 and 20 mg per kilogram of body weight per day for 14 days. In both patients, clinical progression of the disease was correlated with an increase in the size of low-...

journal_title：Annals of neurology

authors： Rand KH,Johnson KP,Rubinstein LJ,Wolinsky JS,Penney JB,Walker DL,Padgett BL,Merigan TC

更新日期：1977-05-01 00:00:00

abstract：:The nucleus basalis of Meynert, which supplies diffuse cholinergic fibers to the cerebral neocortex, was investigated in two cases of parkinsonism-dementia complex of Guam (PDG). The nucleus basalis of the two PDG patients showed extensive neuron loss when compared with age-matched non-Guamanian controls, suggesting t...

journal_title：Annals of neurology

authors： Nakano I,Hirano A

更新日期：1983-01-01 00:00:00

abstract：:An inception cohort of 40 children and adolescents with traumatic brain injury and suspected diffuse axonal injury were studied using a new high-resolution magnetic resonance imaging susceptibility-weighted technique that is very sensitive for hemorrhage. A blinded comparison was performed between the extent of parenc...

journal_title：Annals of neurology

authors： Tong KA,Ashwal S,Holshouser BA,Nickerson JP,Wall CJ,Shutter LA,Osterdock RJ,Haacke EM,Kido D

更新日期：2004-07-01 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：:In multiple sclerosis (MS), the influx of activated T lymphocytes into the brain parenchyma leads to the subsequent damage of oligodendrocytes, the cells that produce central nervous system (CNS) myelin. We report here that interferon beta-1b (IFNbeta-1b), a drug shown to be efficacious in the treatment of patients wi...

journal_title：Annals of neurology

authors： Stüve O,Dooley NP,Uhm JH,Antel JP,Francis GS,Williams G,Yong VW

更新日期：1996-12-01 00:00:00

abstract：:Because of the association of D-penicillamine (DP) therapy with myasthenia gravis, we have studied long-term DP treatment in five inbred strains of mice with doses comparable to those used in patients with rheumatoid arthritis. No clinical weakness or anti-acetylcholine receptor (AChR) antibody developed with up to 6 ...

journal_title：Annals of neurology

authors： Bever CT Jr,Dretchen KL,Blake GJ,Chang HW,Penn AS,Asofsky R

更新日期：1984-07-01 00:00:00

abstract：OBJECTIVE:To investigate whether soluble growth stimulation expressed gene 2 (sST2), a prognostic marker in cardiovascular and inflammatory disorders, is associated with neurological injury after aneurysmal subarachnoid hemorrhage (SAH). METHODS:We studied SAH patients from 2 independent cohorts. Outcome assessments i...

journal_title：Annals of neurology

authors： Bevers MB,Wolcott Z,Bache S,Hansen C,Sastre C,Mylvaganam R,Koch MJ,Patel AB,Møller K,Kimberly WT

更新日期：2019-09-01 00:00:00

abstract：OBJECTIVE:Neuronal channelopathies cause brain disorders, including epilepsy, migraine, and ataxia. Despite the development of mouse models, pathophysiological mechanisms for these disorders remain uncertain. One particularly devastating channelopathy is Dravet syndrome (DS), a severe childhood epilepsy typically cause...

journal_title：Annals of neurology

authors： Liu Y,Lopez-Santiago LF,Yuan Y,Jones JM,Zhang H,O'Malley HA,Patino GA,O'Brien JE,Rusconi R,Gupta A,Thompson RC,Natowicz MR,Meisler MH,Isom LL,Parent JM

更新日期：2013-07-01 00:00:00

abstract：OBJECTIVE:Although electrophysiologic dysfunction of the subthalamic nucleus is putative, deep brain stimulation of this structure has recently been reported to improve obsessions and compulsions. In Parkinson disease, sensorimotor subthalamic neurons display high-frequency burst firing, which is considered as an elect...

journal_title：Annals of neurology

authors： Piallat B,Polosan M,Fraix V,Goetz L,David O,Fenoy A,Torres N,Quesada JL,Seigneuret E,Pollak P,Krack P,Bougerol T,Benabid AL,Chabardès S

更新日期：2011-05-01 00:00:00

abstract：:The cause of the selective degeneration of motor neurons in amyotrophic lateral sclerosis (ALS) remains unexplained. One potential pathogenetic mechanism is chronic toxicity due to disturbances of the glutamatergic neurotransmitter system, mediated via alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionic acid (AMPA)-s...

journal_title：Annals of neurology

authors： Williams TL,Day NC,Ince PG,Kamboj RK,Shaw PJ

更新日期：1997-08-01 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：:We describe a kindred with 7 confirmed and 2 probable cases of subacute dementia accompanied by myoclonus. The inheritance pattern is consistent with autosomal dominance and shows anticipation. The pathological changes involve marked gliosis with neuronal loss of the dorsomedial and midline thalamic nuclei, with lesse...

journal_title：Annals of neurology

authors： Little BW,Brown PW,Rodgers-Johnson P,Perl DP,Gajdusek DC

更新日期：1986-08-01 00:00:00

abstract：:The pathogenetic role of anti-GM1 in chronic acquired demyelinating polyneuropathy (CADP) is uncertain. An association between antibodies and disease activity has not yet been established. In 8 patients with CADP followed longitudinally, anti-GM1 antibodies were monitored with a standardized enzyme-linked immunosorben...

journal_title：Annals of neurology

authors： Bech E,Andersen H,Orntoft TF,Jakobsen J

更新日期：1998-01-01 00:00:00

abstract：OBJECTIVE:Abnormal cortical excitability is evident in various movement disorders that compromise fine motor control. Here we tested whether skilled finger movements can be restored in musicians with focal hand dystonia through behavioral training assisted by transcranial direct current stimulation to the motor cortex ...

journal_title：Annals of neurology

authors： Furuya S,Nitsche MA,Paulus W,Altenmüller E

更新日期：2014-05-01 00:00:00