Disease mechanisms revealed by transcription profiling in SOD1-G93A transgenic mouse spinal cord.

abstract：:Patients with Hodgkin's disease can develop paraneoplastic cerebellar ataxia because of the generation of autoantibodies against mGluR1 (mGluR1-Abs). Yet, the pathophysiological mechanisms underlying their motor coordination deficits remain to be elucidated. Here, we show that application of IgG purified from the pati...

journal_title：Annals of neurology

authors： Coesmans M,Smitt PA,Linden DJ,Shigemoto R,Hirano T,Yamakawa Y,van Alphen AM,Luo C,van der Geest JN,Kros JM,Gaillard CA,Frens MA,de Zeeuw CI

更新日期：2003-03-01 00:00:00

abstract：OBJECTIVE:To design a new class of selective neuronal nitric oxide synthase (NOS) inhibitors, and demonstrate that administration in a rabbit model for cerebral palsy (CP) prevents hypoxia-ischemia-induced deaths and reduces the number of newborn kits exhibiting signs of CP. METHODS:We used a novel computer-based drug...

journal_title：Annals of neurology

authors： Ji H,Tan S,Igarashi J,Li H,Derrick M,Martásek P,Roman LJ,Vásquez-Vivar J,Poulos TL,Silverman RB

更新日期：2009-02-01 00:00:00

abstract：:We found a variable defect of complex I of the mitochondrial respiratory chain, ranging in severity from 25% to 63% of control values, in muscle of patients with Huntington's disease (HD). The most severe defect was observed in the patient with the greatest expansion of CAG triplets. Muscle morphology showed myopathic...

journal_title：Annals of neurology

authors： Arenas J,Campos Y,Ribacoba R,Martín MA,Rubio JC,Ablanedo P,Cabello A

更新日期：1998-03-01 00:00:00

abstract：:Demonstration of intrathecal IgG production is employed in the diagnosis of various neurological disorders. This pathological IgG fraction in cerebrospinal fluid (CSF) can be visualized directly as oligoclonal bands by electrophoresis or isoelectric focusing or can be calculated as "excess" or "synthesized" IgG accord...

journal_title：Annals of neurology

authors： Lefvert AK,Link H

更新日期：1985-01-01 00:00:00

abstract：:Freezing of gait (FOG) is a common and debilitating, but largely mysterious, symptom of Parkinson disease. In this review, we will discuss the cerebral substrate of FOG focusing on brain physiology and animal models. Walking is a combination of automatic movement processes, afferent information processing, and intenti...

journal_title：Annals of neurology

authors： Snijders AH,Takakusaki K,Debu B,Lozano AM,Krishna V,Fasano A,Aziz TZ,Papa SM,Factor SA,Hallett M

更新日期：2016-11-01 00:00:00

abstract：OBJECTIVE:Gray matter (GM) damage and meningeal inflammation have been associated with early disease onset and a more aggressive disease course in multiple sclerosis (MS), but can these changes be identified in the patient early in the disease course? METHODS:To identify possible biomarkers linking meningeal inflammat...

journal_title：Annals of neurology

authors： Magliozzi R,Howell OW,Nicholas R,Cruciani C,Castellaro M,Romualdi C,Rossi S,Pitteri M,Benedetti MD,Gajofatto A,Pizzini FB,Montemezzi S,Rasia S,Capra R,Bertoldo A,Facchiano F,Monaco S,Reynolds R,Calabrese M

更新日期：2018-04-01 00:00:00

abstract：:The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of s...

journal_title：Annals of neurology

authors： Wisniewski KE,Kieras FJ,French JH,Houck GE Jr,Ramos PL

更新日期：1984-07-01 00:00:00

abstract：:Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, neuronatin-mediated endoplasmic reticulum stress, and the laforin glycogen phosphatase. Mal...

journal_title：Annals of neurology

authors： Turnbull J,Epp JR,Goldsmith D,Zhao X,Pencea N,Wang P,Frankland PW,Ackerley CA,Minassian BA

更新日期：2014-03-01 00:00:00

abstract：OBJECTIVE:Chronic demyelination can result in axonopathy and is associated with human neurological conditions such as multiple sclerosis (MS) in adults and cerebral palsy in infants. In these disorders, myelin regeneration is inhibited by impaired differentiation of oligodendrocyte progenitors into myelin-producing oli...

journal_title：Annals of neurology

authors： Fancy SP,Glasgow SM,Finley M,Rowitch DH,Deneen B

更新日期：2012-08-01 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:Fast oscillations (FOs) were first explored from scalp electroencephalographic (EEG) data from hypsarrhythmia in West syndrome (infantile spasms) to investigate the meaning of FOs in this epileptic encephalopathy. METHODS:In 17 infants with West syndrome, we conservatively detected fast frequency peaks that ...

journal_title：Annals of neurology

authors： Kobayashi K,Akiyama T,Oka M,Endoh F,Yoshinaga H

更新日期：2015-01-01 00:00:00

abstract：:We used spin-echo magnetic resonance imaging and proton magnetic resonance spectroscopic imaging in 8 patients with probable Alzheimer's disease and in 10 age-matched elderly control subjects to assess the effects of Alzheimer's disease on the brain. On magnetic resonance images the patients showed significant ventric...

journal_title：Annals of neurology

authors： Meyerhoff DJ,MacKay S,Constans JM,Norman D,Van Dyke C,Fein G,Weiner MW

更新日期：1994-07-01 00:00:00

abstract：:Previous studies using two seizure paradigms, electroconvulsive shock and kindling, suggested potential sites of endogenous thyrotropin-releasing hormone (TRH) action in specific epileptogenic areas. We studied TRH gene expression and TRH receptors in rat limbic areas using the kindling model of epilepsy. Immunoassaya...

journal_title：Annals of neurology

authors： Kubek MJ,Knoblach SM,Sharif NA,Burt DR,Buterbaugh GG,Fuson KS

更新日期：1993-01-01 00:00:00

abstract：:We examined the phenotypic variation and clinical genetics in nine families with generalized epilepsy with febrile seizures plus (GEFS+). This genetic epilepsy syndrome with heterogeneous phenotypes was hitherto described in only one family. We obtained genealogical information on 799 individuals and conducted detaile...

journal_title：Annals of neurology

authors： Singh R,Scheffer IE,Crossland K,Berkovic SF

更新日期：1999-01-01 00:00:00

abstract：:Ross River virus (strain T48) infection in mice causes an encephalomyelitis characterized by focal, primary demyelination in the cerebellum, brain stem, and spinal cord. Maximal serum and brain content of virus occurs on days 2 and 4, respectively. Virus is not detectable in serum after day 3 or in brain after day 9. ...

journal_title：Annals of neurology

authors： Seay AR,Wolinsky JS

更新日期：1982-10-01 00:00:00

abstract：OBJECTIVE:Normal aging is often associated with a decline in learning and memory functions. This decline is manifested to a much greater extent in Alzheimer's disease. Recent studies have indicated statins, a class of cholesterol-lowering drugs, as a potential therapy for Alzheimer's disease. Our objective was to deter...

journal_title：Annals of neurology

authors： Li L,Cao D,Kim H,Lester R,Fukuchi K

更新日期：2006-12-01 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：:PINK1 was recently found to be associated with PARK6 as the causative gene. We performed mutation analysis in eight inbred families whose haplotypes link to the PARK6 region. We identified six pathogenic mutations (R246X, H271Q, E417G, L347P, and Q239X/R492X) in six unrelated families. All sites of mutations were nove...

journal_title：Annals of neurology

authors： Hatano Y,Li Y,Sato K,Asakawa S,Yamamura Y,Tomiyama H,Yoshino H,Asahina M,Kobayashi S,Hassin-Baer S,Lu CS,Ng AR,Rosales RL,Shimizu N,Toda T,Mizuno Y,Hattori N

更新日期：2004-09-01 00:00:00

abstract：:Nineteen patients with radiologically confirmed stroke, and varying degrees of hemiparesis, were studied using somatosensory evoked potentials and the recently developed technique of transcutaneous motor cortex stimulation. The functional deficit caused by stroke was assessed at the time of evoked potential testing an...

journal_title：Annals of neurology

authors： Macdonell RA,Donnan GA,Bladin PF

更新日期：1989-01-01 00:00:00

abstract：:Various C-terminally truncated amyloid beta peptides (Abeta) are linked to Alzheimer's disease (AD) pathogenesis. Cerebrospinal fluid (CSF) concentrations of Abeta38, Abeta40, and Abeta42 were measured by enzyme-linked immunosorbent assay in 30 patients with AD and 26 control subjects. CSF Abeta42 levels was decreased...

journal_title：Annals of neurology

authors： Schoonenboom NS,Mulder C,Van Kamp GJ,Mehta SP,Scheltens P,Blankenstein MA,Mehta PD

更新日期：2005-07-01 00:00:00

abstract：:Increased glutamatergic transmission in the basal ganglia is implicated in the pathophysiology of Parkinson's disease. However, the mechanisms by which activation of glutamate receptors produce parkinsonism are unknown. Therefore, we examined whether the glutamate agonists N-methyl-D-aspartate (NMDA), alpha-amino-3-hy...

journal_title：Annals of neurology

authors： Klockgether T,Turski L

更新日期：1993-10-01 00:00:00

abstract：:The post-poliomyelitis syndrome (PPS) refers to symptoms of new weakness, fatigue, and pain years after recovery from acute poliomyelitis. Oligoclonal IgG bands have been reported in the cerebrospinal fluid (CSF) from PPS patients, suggesting that the syndrome is immune mediated or caused by persistent viral infection...

journal_title：Annals of neurology

authors： Salazar-Grueso EF,Grimaldi LM,Roos RP,Variakojis R,Jubelt B,Cashman NR

更新日期：1989-12-01 00:00:00

abstract：:We registered 366 families in a study of dominantly inherited amyotrophic lateral sclerosis. Two hundred ninety families were screened for mutations in the gene encoding copper-zinc cytosolic superoxide dismutase (SOD1). Mutations were detected in 68 families. The most common SOD1 mutation is an alanine for valine sub...

journal_title：Annals of neurology

authors： Cudkowicz ME,McKenna-Yasek D,Sapp PE,Chin W,Geller B,Hayden DL,Schoenfeld DA,Hosler BA,Horvitz HR,Brown RH

更新日期：1997-02-01 00:00:00

abstract：:In inclusion body myositis, T cells invade and destroy nonnecrotic muscle fibers. The mechanism by which T cells damage muscle fibers in inflammatory myopathies is not known. In this study we have investigated the expression of Fas and Fas ligand in muscle in five patients with inclusion body myositis. Reverse transcr...

journal_title：Annals of neurology

authors： Fyhr IM,Oldfors A

更新日期：1998-01-01 00:00:00

abstract：:Autopsy examination confirmed the diagnosis of subacute necrotizing encephalomyelopathy (SNE) in a 7-month-old male infant who underwent several metabolic studies before death. Intermittent lactic acidemia and fumaric aciduria, an extreme hyperglycemic response to an intravenous bolus of alanine, and an elevated total...

journal_title：Annals of neurology

authors： DeVivo DC,Haymond MW,Obert KA,Nelson JS,Pagliara AS

更新日期：1979-12-01 00:00:00

abstract：OBJECTIVE:The Ts65Dn (Ts) mouse model of Down syndrome (DS) is exquisitely sensitive to an infantile spasms phenotype induced by γ-aminobutyric acidB receptor (GABAB R) agonists. The Ts mouse contains the core genomic triplication of the DS critical region, which includes 3 copies of the Kcnj6 gene that encodes the GAB...

journal_title：Annals of neurology

authors： Joshi K,Shen L,Michaeli A,Salter M,Thibault-Messier G,Hashmi S,Eubanks JH,Cortez MA,Snead OC

更新日期：2016-10-01 00:00:00

abstract：OBJECTIVE:Amyotrophic lateral sclerosis (ALS) is a motor neuron disease whose pathophysiological deficits, causing impairment in motor function, are largely unknown. Here we propose that hydrogen sulfide (H2 S), as a glial-released inflammatory factor, contributes to ALS-mediated motor neuron death. METHODS:H2 S conce...

journal_title：Annals of neurology

authors： Davoli A,Greco V,Spalloni A,Guatteo E,Neri C,Rizzo GR,Cordella A,Romigi A,Cortese C,Bernardini S,Sarchielli P,Cardaioli G,Calabresi P,Mercuri NB,Urbani A,Longone P

更新日期：2015-04-01 00:00:00

abstract：:Localized water-suppressed 1H magnetic resonance spectroscopy was performed in an 11-month-old infant with Leigh syndrome. Spectra obtained from the basal ganglia, occipital cortex, and brainstem showed elevations in lactate, which were most pronounced in regions where abnormalities were seen with routine T2-weighted ...

journal_title：Annals of neurology

authors： Detre JA,Wang ZY,Bogdan AR,Gusnard DA,Bay CA,Bingham PM,Zimmerman RA

更新日期：1991-02-01 00:00:00

abstract：OBJECTIVE:Mounting evidence links neurodegenerative disorders such as Parkinson disease and Alzheimer disease with mitochondrial dysfunction, and recent emphasis has focused on mitochondrial dynamics and quality control. Mitochondrial dynamics and mtDNA maintenance is another link recently emerged, implicating mutation...

journal_title：Annals of neurology

authors： Carelli V,Musumeci O,Caporali L,Zanna C,La Morgia C,Del Dotto V,Porcelli AM,Rugolo M,Valentino ML,Iommarini L,Maresca A,Barboni P,Carbonelli M,Trombetta C,Valente EM,Patergnani S,Giorgi C,Pinton P,Rizzo G,Tonon C,

更新日期：2015-07-01 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