Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.

abstract：OBJECTIVE:Lacunar strokes are a leading cause of cognitive impairment and vascular dementia. However, adequate characterization of cognitive impairment is lacking. The aim of this study was to estimate the prevalence and characterize the neuropsychological impairment in lacunar stroke patients. METHODS:All English-spe...

journal_title：Annals of neurology

authors： Jacova C,Pearce LA,Costello R,McClure LA,Holliday SL,Hart RG,Benavente OR

更新日期：2012-09-01 00:00:00

abstract：:Only 6 patients with intracranial hypertension associated with unruptured cerebral arteriovenous malformations have been reported. We report 6 additional patients seen at the Cleveland Clinic during the past 10 years. The average age was 28 years (range, 19-44 years); 4 were women. Symptoms and signs included papilled...

journal_title：Annals of neurology

authors： Chimowitz MI,Little JR,Awad IA,Sila CA,Kosmorsky G,Furlan AJ

更新日期：1990-05-01 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 families with a point mutation in mtDNA associated with myoclonic epilepsy and ragged-red fiber disease showed pronounced clinical heterogeneity. The mothers of the two families had adult-onset myopathy with ragged-red fibers, partial deficiency of cytochrome c oxidase, and sensory neuropathy. Members of the first...

journal_title：Annals of neurology

authors： Graf WD,Sumi SM,Copass MK,Ojemann LM,Longstreth WT Jr,Shanske S,Lombes A,DiMauro S

更新日期：1993-06-01 00:00:00

abstract：:We prepared RNA probes from cloned segments of human and murine enteroviruses (EVs) for in situ hybridization of skeletal muscle biopsies from patients with dermatomyositis (DM), polymyositis, other inflammatory myopathies, and noninflammatory muscle diseases, and from normal control subjects. A probe derived from The...

journal_title：Annals of neurology

authors： Rosenberg NL,Rotbart HA,Abzug MJ,Ringel SP,Levin MJ

更新日期：1989-08-01 00:00:00

abstract：:The causes of amyotrophic lateral sclerosis, Parkinson disease, and Alzheimer disease are unknown. Furthermore, treatment for two of these conditions is almost totally lacking. The thesis is presented that each of these disorders is due to lack of a disorder-specific neurotrophic hormone. The hormone would be elaborat...

journal_title：Annals of neurology

authors： Appel SH

更新日期：1981-12-01 00:00:00

abstract：:Malignant tumors are known to have a "remote" or nonmetastatic effect on the central and peripheral nervous systems. Eight patients were seen with proximal muscle weakness in association with bronchogenic carcinoma (5), carcinoma of breast (2), and leukemia (1). Electromyography demonstrated small polyphasic motor uni...

journal_title：Annals of neurology

authors： Barron SA,Heffner RR Jr

更新日期：1978-09-01 00:00:00

abstract：OBJECTIVE:Human immunodeficiency virus (HIV) infection of the central nervous system (CNS) is frequently associated with intrathecal immunoglobulin synthesis and cerebrospinal fluid (CSF) pleocytosis, but little is known about the B-cell response in the CSF of these patients. In this study, we investigated the relation...

journal_title：Annals of neurology

authors： Cepok S,von Geldern G,Nolting T,Grummel V,Srivastava R,Zhou D,Hartung HP,Adams O,Arendt G,Hemmer B

更新日期：2007-11-01 00:00:00

abstract：:Two extended haplotypes of the tau gene (H1 and H2) have been described. The frequency of H1 haplotype is increased in progressive supranuclear palsy (PSP). PSP is associated with filamentous tau lesions in neurons and glia, which are reportedly composed exclusively of tau isoforms with four repeats in the microtubule...

journal_title：Annals of neurology

authors： Liu WK,Le TV,Adamson J,Baker M,Cookson N,Hardy J,Hutton M,Yen SH,Dickson DW

更新日期：2001-10-01 00:00:00

abstract：:Regional patterns of cerebral glucose utilization (rCMRglc) and blood flow (rCBF) were examined in the early recovery period following transient forebrain ischemia in order to correlate early postischemic physiological events with regionally selective patterns of ischemic neuropathology. Wistar rats were subjected to ...

journal_title：Annals of neurology

authors： Ginsberg MD,Graham DI,Busto R

更新日期：1985-10-01 00:00:00

abstract：:We have conducted a trial to randomly assess the efficacy and tolerance of intravenous immunoglobulin (i.v.Ig) or plasma exchange (PE) in myasthenia gravis (MG) exacerbation and to compare two doses of i.v.Ig. Eighty-seven patients with MG exacerbation were randomized to receive either three PE (n = 41), or i.v.Ig (n ...

journal_title：Annals of neurology

authors： Gajdos P,Chevret S,Clair B,Tranchant C,Chastang C

更新日期：1997-06-01 00:00:00

abstract：:Intracranial abscesses are uncommon in the newborn. Observation of 2 infants and a review of the literature reveal that the offending organism was a Citrobacter in 12 of the 16 documented cases. In the Neonatal Meningitis Cooperative Study this organism was responsible for meningitis in only 4%. However, an analysis o...

journal_title：Annals of neurology

authors： Curless RG

更新日期：1980-09-01 00:00:00

abstract：:A case-control study was performed to determine the possible roles of various environmental factors, prior illnesses, drug use, and personal habits in the development of Alzheimer's disease. Such information was collected from 40 patients with onset of dementia prior to age 70 and from 80 community control subjects ma...

journal_title：Annals of neurology

authors： Heyman A,Wilkinson WE,Stafford JA,Helms MJ,Sigmon AH,Weinberg T

更新日期：1984-04-01 00:00:00

abstract：:Multiple sclerosis (MS) has been associated with HLA-DR2 for more than 20 years, and a large number of studies have addressed the relation between MS and the HLA class II genes, which are our major immune-response genes. This has produced a complex and confusing picture that is difficult to interpret. With the advent ...

journal_title：Annals of neurology

authors： Hillert J

更新日期：1994-01-01 00:00:00

abstract：:Most clinically demented elderly patients are found at autopsy to have Alzheimer's disease, multi-infarct dementia, Parkinson's disease, Pick's disease, or Creutzfeldt-Jakob disease. We studied 5 patients clinically characterized by late onset dementia whose brains showed no pathological evidence of Alzheimer's diseas...

journal_title：Annals of neurology

authors： Masliah E,Hansen LA,Quijada S,DeTeresa R,Alford M,Kauss J,Terry R

更新日期：1991-04-01 00:00:00

abstract：:Unexpected sudden death is a common event in otherwise healthy epileptics, though its etiology has remained unclear. Many authors have suggested cardiac arrhythmias as the cause, and limited data in humans and animal studies have supported this. However, autopsy series in humans have shown pulmonary edema, a phenomeno...

journal_title：Annals of neurology

authors： Johnston SC,Horn JK,Valente J,Simon RP

更新日期：1995-04-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...

journal_title：Annals of neurology

authors： Grzeschik SM,Ganta M,Prior TW,Heavlin WD,Wang CH

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:Faster time from onset to recanalization (OTR) in acute ischemic stroke using endovascular therapy (ET) has been associated with better outcome. However, previous studies were based on less-effective first-generation devices, and analyzed only dichotomized disability outcomes, which may underestimate the full...

journal_title：Annals of neurology

authors： Sheth SA,Jahan R,Gralla J,Pereira VM,Nogueira RG,Levy EI,Zaidat OO,Saver JL,SWIFT-STAR Trialists.

更新日期：2015-10-01 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：: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：:Nine patients who had suffered strokes were examined between 10 and 34 days after onset using positron emission tomography. DMO labeled with carbon 11 was used to evaluate brain acid-base balance, and the oxygen-15 inhalation technique was used to measure regional cerebral blood flow, the oxygen extraction fraction, a...

journal_title：Annals of neurology

authors： Syrota A,Castaing M,Rougemont D,Berridge M,Baron JC,Bousser MG,Pocidalo JJ

更新日期：1983-10-01 00:00:00

abstract：OBJECTIVE:Huntington disease (HD) is an inherited neurodegenerative disease caused by the mutant huntingtin gene (mHTT), which harbors expanded CAG repeats. We previously reported that the brain vessel density is higher in mice and patients with HD than in controls. The present study determines whether vascular functio...

journal_title：Annals of neurology

authors： Hsiao HY,Chen YC,Huang CH,Chen CC,Hsu YH,Chen HM,Chiu FL,Kuo HC,Chang C,Chern Y

更新日期：2015-08-01 00:00:00

abstract：:Actin filaments in skin fibroblasts from patients with Huntington's disease (HD) were examined using immunofluorescent methods. Actin filaments were seen along the axis of cell elongation (stress or sheath filaments) as well as in areas of membrane ruffling (lattice filaments). In some cases, filaments appeared to rad...

journal_title：Annals of neurology

authors： Geary LE,Lazarides E,Goetz I,Roberts E

更新日期：1978-12-01 00:00:00

abstract：:The present study aimed at determining the distribution and somatotopical organization of striatal activation during performance of simple motor tasks. Ten right-handed healthy volunteers were studied by using a 3-T whole-body magnetic resonance unit and echo planar imaging. The tasks consisted of self-paced flexion/e...

journal_title：Annals of neurology

authors： Lehéricy S,van de Moortele PF,Lobel E,Paradis AL,Vidailhet M,Frouin V,Neveu P,Agid Y,Marsault C,Le Bihan D

更新日期：1998-09-01 00:00:00

abstract：:The site of autonomic deficit was investigated in 4 patients with loss of thermoregulatory flushing and sweating on one side of the face but no associated miosis (harlequin syndrome). In 2 patients the sudomotor deficit included the hand. Signs of postganglionic sympathetic deficit included pathological lacrimal sweat...

journal_title：Annals of neurology

authors： Drummond PD,Lance JW

更新日期：1993-12-01 00:00:00

abstract：:To evaluate reports of abnormal levels of free amino acids (AA) in patients with amyotrophic lateral sclerosis (ALS), we studied serum, cerebrospinal fluid, and urine AA in 12 patients with ALS and 12 controls matched for age, sex, and severity of disability. ALS patients had statistically significant elevations in se...

journal_title：Annals of neurology

authors： Patten BM,Harati Y,Acosta L,Jung SS,Felmus MT

更新日期：1978-04-01 00:00:00

abstract：OBJECTIVE:Our goal was to define the genetic cause of the profound hypomyelination in the taiep rat model and determine its relevance to human white matter disease. METHODS:Based on previous localization of the taiep mutation to rat chromosome 9, we tested whether the mutation resided within the Tubb4a (β-tubulin 4A) ...

journal_title：Annals of neurology

authors： Duncan ID,Bugiani M,Radcliff AB,Moran JJ,Lopez-Anido C,Duong P,August BK,Wolf NI,van der Knaap MS,Svaren J

更新日期：2017-05-01 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：:Huntington's disease is a genetic disorder that causes motor dysfunction, personality changes, dementia, and premature death. There is currently no effective therapy. Several transgenic models of Huntington's disease are available, the most widely used of which is the R6/2 mouse, because of its rapid disease progressi...

journal_title：Annals of neurology

authors： Hockly E,Cordery PM,Woodman B,Mahal A,van Dellen A,Blakemore C,Lewis CM,Hannan AJ,Bates GP

更新日期：2002-02-01 00:00:00

abstract：OBJECTIVE:Delayed cerebral ischemia (DCI) is a common, disabling complication of subarachnoid hemorrhage (SAH). Preventing DCI is a key focus of neurocritical care, but interventions carry risk and cannot be applied indiscriminately. Although retrospective studies have identified continuous electroencephalographic (cEE...

journal_title：Annals of neurology

authors： Rosenthal ES,Biswal S,Zafar SF,O'Connor KL,Bechek S,Shenoy AV,Boyle EJ,Shafi MM,Gilmore EJ,Foreman BP,Gaspard N,Leslie-Mazwi TM,Rosand J,Hoch DB,Ayata C,Cash SS,Cole AJ,Patel AB,Westover MB

更新日期：2018-05-01 00:00:00