Serological alpha 1-antichymotrypsin in Down's syndrome and Alzheimer's disease.

abstract：:Charcot-Marie-Tooth (CMT) neuropathies are inherited neuromuscular disorders caused by a length-dependent neurodegeneration of peripheral nerves. More than 900 mutations in 60 different genes are causative of the neuropathy. Despite significant progress in therapeutic strategies, the disease remains incurable. The inc...

journal_title：Annals of neurology

authors： Bouhy D,Timmerman V

更新日期：2013-09-01 00:00:00

abstract：:Epileptic patients experienced an irreversible loss of their peripheral visual field upon treatment with vigabatrin (gamma-vinyl GABA), an inhibitor of the GABA degrading enzyme, GABA transaminase. Subsequently, central visual function was reported to also be irreversibly altered. This visual loss is associated with a...

journal_title：Annals of neurology

authors： Duboc A,Hanoteau N,Simonutti M,Rudolf G,Nehlig A,Sahel JA,Picaud S

更新日期：2004-05-01 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：:One of the most striking manifestations of Down's syndrome is profound mental retardation. Furthermore, after 35 years of age, many patients with Down's syndrome develop clinical and pathological features of Alzheimer's disease. Since brains of patients with Alzheimer's disease show significant loss of neurons in the ...

journal_title：Annals of neurology

authors： Casanova MF,Walker LC,Whitehouse PJ,Price DL

更新日期：1985-09-01 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：:To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or 1 day after kainic acid was administered, and was continued th...

journal_title：Annals of neurology

authors： Mikati MA,Holmes GL,Chronopoulos A,Hyde P,Thurber S,Gatt A,Liu Z,Werner S,Stafstrom CE

更新日期：1994-09-01 00:00:00

abstract：:Multiple sclerosis patients who become pregnant experience a significant decrease in relapses that may be mediated by a shift in immune responses from T helper 1 to T helper 2. Animal models of multiple sclerosis have shown that the pregnancy hormone, estriol, can ameliorate disease and can cause an immune shift. We t...

journal_title：Annals of neurology

authors： Sicotte NL,Liva SM,Klutch R,Pfeiffer P,Bouvier S,Odesa S,Wu TC,Voskuhl RR

更新日期：2002-10-01 00:00:00

abstract：:Evidence implicating mitochondrial dysfunction in the central nervous system of patients with sporadic amyotrophic lateral sclerosis (SALS) has recently been accumulating. In contrast, data on mitochondrial function in skeletal muscle in SALS are scarce and controversial. We investigated the in situ properties of musc...

journal_title：Annals of neurology

authors： Echaniz-Laguna A,Zoll J,Ribera F,Tranchant C,Warter JM,Lonsdorfer J,Lampert E

更新日期：2002-11-01 00:00:00

abstract：:A 65-year-old woman with subacute global deterioration of neurological function had bilateral occlusion of the internal carotid arteries demonstrated by angiography. Postmortem examination showed isolated giant cell arteritis involving the carotid siphon bilaterally. ...

journal_title：Annals of neurology

authors： Howard GF 3rd,Ho SU,Kim KS,Wallach J

更新日期：1984-02-01 00:00:00

abstract：OBJECTIVE:MRI-negative (MRI-) pharmacoresistant focal epilepsy (PFE) patients are most challenging for epilepsy surgical management. This study utilizes a voxel-based MRI postprocessing technique, implemented using a morphometric analysis program (MAP), aiming to facilitate detection of subtle focal cortical dysplasia ...

journal_title：Annals of neurology

authors： Wang ZI,Alexopoulos AV,Jones SE,Najm IM,Ristic A,Wong C,Prayson R,Schneider F,Kakisaka Y,Wang S,Bingaman W,Gonzalez-Martinez JA,Burgess RC

更新日期：2014-05-01 00:00:00

abstract：:In this study, we preincubated the sera of 3 patients with neuropathies associated with elevated titers of IgM anti-GM1 antibodies, with increasing concentrations of intravenous Ig (IVIg) and assayed the inhibitory effect of this mixture on antibody binding to immobilized GM1 by an enzyme-linked immunosorbent assay. P...

journal_title：Annals of neurology

authors： Malik U,Oleksowicz L,Latov N,Cardo LJ

更新日期：1996-01-01 00:00:00

abstract：:The highly encephalitogenic guinea pig peptide 68-88 has been used to develop an effective and reproducible model of protection in the Lewis rat. Doses as low as 0.1 nmol of peptide protected 70% of rats when injected intraperitoneally six and four weeks prior to challenge with 0.05 nmol of the peptide in complete Fre...

journal_title：Annals of neurology

authors： Chou FC,Chou CH,Fritz RB,Kibler RF

更新日期：1980-04-01 00:00:00

abstract：:Discussing the problem of multiple sclerosis and viruses should not be limited to reviewing the epidemiological evidence in favor, or against, a particular candidate, such as Epstein-Barr virus or human herpes virus 6. In this text, I discuss the difficulty of going from association to causation in human epidemiology;...

journal_title：Annals of neurology

authors： Brahic M

更新日期：2010-07-01 00:00:00

abstract：:A patient with recessive generalized congenital myotonia and severe, disabling weakness underwent various forms of treatment while being monitored electrophysiologically. Phenytoin, verapamil, and acetazolamide were ineffective, but tocainide yielded good results. Improvement was dose-dependent, and was limited by irr...

journal_title：Annals of neurology

authors： Streib EW

更新日期：1986-05-01 00:00:00

abstract：:Two family members with hereditary pressure-sensitive neuropathy are reported. One patient presented atypically with acute brachial plexus neuropathy following transaxillary removal of the first rib. Electrophysiological studies showed slowing of motor nerve conduction in clinically affected and unaffected nerves. In ...

journal_title：Annals of neurology

authors： Bosch EP,Chui HC,Martin MA,Cancilla PA

更新日期：1980-12-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy (PML) complicating the acquired immunodeficiency syndrome (AIDS) is typically inexorably progressive with death usually occurring within 6 months of symptom onset. Occasional patients have been observed to survive longer than 1 year, often with remission of clinical features....

journal_title：Annals of neurology

authors： Berger JR,Levy RM,Flomenhoft D,Dobbs M

更新日期：1998-09-01 00:00:00

abstract：:Seven patients with postfacial palsy contracture and mass contractions were investigated electrophysiologically. In 3 patients the early blink reflex showed an unusually high amplitude, which can be attributed to enhanced excitability of facial motor neurons. In 5 patients the early blink reflex had acquired a crossed...

journal_title：Annals of neurology

authors： Bratzlavsky M,vander Eecken H

更新日期：1977-07-01 00:00:00

abstract：:Passive joint position sense was tested in 10 subjects after unilateral total hip replacement surgery (which included capsulectomy). Varied initial limb position, amplitude, and velocity of movement were used. The unoperated side was used as a control. Statistically barely significant errors (p less than 0.025) on the...

journal_title：Annals of neurology

authors： Karanjia PN,Ferguson JH

更新日期：1983-06-01 00:00:00

abstract：:Neurofilaments, assembled from NF-L (68 kd), NF-M (95 kd), and NF-H (115 kd), are the most abundant structural components in large myelinated axons, particularly those of motor neurons. Aberrant neurofilament accumulation in cell bodies and axons of motor neurons is a prominent pathological feature of several motor ne...

journal_title：Annals of neurology

authors： Vechio JD,Bruijn LI,Xu Z,Brown RH Jr,Cleveland DW

更新日期：1996-10-01 00:00:00

abstract：:We report four children with idiopathic stroke syndromes who were assayed for human leukocyte antigen (HLA) class I markers and found to have HLA-B51 in common. This finding suggests that there may be a genetic predisposition for "idiopathic" childhood stroke, and host factors, possibly in concert with environmental f...

journal_title：Annals of neurology

authors： Mintz M,Epstein LG,Koenigsberger MR

更新日期：1992-06-01 00:00:00

abstract：:We describe a French amyotrophic lateral sclerosis (ALS) family with two distinct mutations in the Cu/Zn superoxide dismutase (SOD1) gene. The D90A mutation has been well described and clearly shown to cause recessive ALS. In this family, affected individuals are heterozygous for the D90A mutation and also carry a sin...

journal_title：Annals of neurology

authors： Hand CK,Mayeux-Portas V,Khoris J,Briolotti V,Clavelou P,Camu W,Rouleau GA

更新日期：2001-02-01 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：:Mitochondrial iron accumulation is thought to underlie the pathophysiology of Friedreich ataxia and may occur at the expense of cytosolic iron. Decreases in cytosolic iron induce expression of the transferrin receptor, some of which is released into the serum. Here, we demonstrate that serum transferrin receptor conce...

journal_title：Annals of neurology

authors： Wilson RB,Lynch DR,Farmer JM,Brooks DG,Fischbeck KH

更新日期：2000-05-01 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：:Analysis of mitochondrial DNA (mtDNA) in muscle and blood from 72 patients with mitochondrial myopathy showed that 30 had major deletions of a variable proportion of muscle mtDNA. All of these 30 patients presented with progressive external ophthalmoplegia and limb weakness, and 8 had the additional features of the Ke...

journal_title：Annals of neurology

authors： Holt IJ,Harding AE,Cooper JM,Schapira AH,Toscano A,Clark JB,Morgan-Hughes JA

更新日期：1989-12-01 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：:Infection by the human immunodeficiency virus type 1 (HIV-1) often results in neurological dysfunction including HIV dementia (HIVD). Alterations in cytokine and redox balance are thought to play important roles in the pathogenesis of HIVD, but the specific mechanisms underlying neuronal dysfunction and death are unkn...

journal_title：Annals of neurology

authors： Haughey NJ,Cutler RG,Tamara A,McArthur JC,Vargas DL,Pardo CA,Turchan J,Nath A,Mattson MP

更新日期：2004-02-01 00:00:00

abstract：:A 45-year-old woman was diagnosed as having the unclassified form of botulism. Her intestines may have been predisposed to colonization with Clostridium botulinum because of a jejunoileal bypass procedure that had been done several years earlier. One other similar case has been reported. ...

journal_title：Annals of neurology

authors： Freedman M,Armstrong RM,Killian JM,Boland D

更新日期：1986-11-01 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:There are no validated methods for predicting the timing of seizures. Using machine learning, we sought to forecast 24-hour risk of self-reported seizure from e-diaries. METHODS:Data from 5,419 patients on SeizureTracker.com (including seizure count, type, and duration) were split into training (3,806 patien...

journal_title：Annals of neurology

authors： Goldenholz DM,Goldenholz SR,Romero J,Moss R,Sun H,Westover B

更新日期：2020-09-01 00:00:00