Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy.

abstract：:Recent studies reported the presence of anti-ganglioside antibodies in occasional patients with motor neuron disease. We found polyclonal serum IgM anti-GM1 antibodies by an anti-GM1 enzyme-linked immunosorbent assay (ELISA) in 9 (19%) of 48 patients with motor neuron disease. A comparable frequency of IgM anti-GM1 an...

journal_title：Annals of neurology

authors： Salazar-Grueso EF,Routbort MJ,Martin J,Dawson G,Roos RP

更新日期：1990-05-01 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：:Mutations in genes encoding the NADH ubiquinone oxidoreductase, complex I of the respiratory chain, cause a diverse group of diseases. They include Leber hereditary optic neuropathy, Leigh syndrome, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. There is no effective treatment for t...

journal_title：Annals of neurology

authors： Qi X,Lewin AS,Sun L,Hauswirth WW,Guy J

更新日期：2004-08-01 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:To examine the functional neuroanatomy that could account for pure Gerstmann syndrome, which is the selective association of acalculia, finger agnosia, left-right disorientation, and agraphia. METHODS:We used structural and functional neuroimaging at high spatial resolution in healthy subjects to seek a shar...

journal_title：Annals of neurology

authors： Rusconi E,Pinel P,Eger E,LeBihan D,Thirion B,Dehaene S,Kleinschmidt A

更新日期：2009-11-01 00:00:00

abstract：:A novel mitochondrial DNA transfer RNA mutation at position 5549 was identified in a patient with dementia, chorea, cerebellar ataxia, deafness, and peripheral neuropathy in the absence of clinical myopathy. Muscle biopsy specimens showed ragged red and cytochrome oxidase-negative fibers, and reduced complex I activit...

journal_title：Annals of neurology

authors： Nelson I,Hanna MG,Alsanjari N,Scaravilli F,Morgan-Hughes JA,Harding AE

更新日期：1995-03-01 00:00:00

abstract：OBJECTIVE:We examined the association of nutrient intake with microstructural white matter integrity, and the role of white matter integrity in the association between nutrient consumption and cognition. METHODS:This cross-sectional analysis included 239 elderly (age ≥ 65 years) participants of a multiethnic cohort. W...

journal_title：Annals of neurology

authors： Gu Y,Vorburger RS,Gazes Y,Habeck CG,Stern Y,Luchsinger JA,Manly JJ,Schupf N,Mayeux R,Brickman AM

更新日期：2016-06-01 00:00:00

abstract：OBJECTIVE:Nonketotic hyperglycinemia is a neurometabolic disorder characterized by intellectual disability, seizures, and spasticity. Patients with attenuated nonketotic hyperglycinemia make variable developmental progress. Predictive factors have not been systematically assessed. METHODS:We reviewed 124 patients stra...

journal_title：Annals of neurology

authors： Swanson MA,Coughlin CR Jr,Scharer GH,Szerlong HJ,Bjoraker KJ,Spector EB,Creadon-Swindell G,Mahieu V,Matthijs G,Hennermann JB,Applegarth DA,Toone JR,Tong S,Williams K,Van Hove JL

更新日期：2015-10-01 00:00:00

abstract：OBJECTIVE:This study addresses an important problem in neurology, distinguishing tremor and ataxia using quantitative methods. Specifically, we aimed to quantitatively separate dysmetria, a cardinal sign of ataxia, from tremor in essential tremor (ET). METHODS:In Experiment 1, we compared 19 participants diagnosed wit...

journal_title：Annals of neurology

authors： Casamento-Moran A,Yacoubi B,Wilkes BJ,Hess CW,Foote KD,Okun MS,Wagle Shukla A,Vaillancourt DE,Christou EA

更新日期：2020-08-01 00:00:00

abstract：:We previously reported that the monoclonal antibody Alz-50 recognizes a protein (A68) with an apparent molecular weight of 68,000 daltons in the brains of patients who died with Alzheimer's disease, but not in brain tissue from individuals free of neurological disease. We now report that substantial quantities of this...

journal_title：Annals of neurology

authors： Wolozin B,Davies P

更新日期：1987-10-01 00:00:00

abstract：:We explored the hypothesis that components of verbal memory are subserved by separate temporal lobe structures in patients with temporal lobe structures in patients with temporal lobe epilepsy [correction]. Uptake of 18F-fluorodeoxyglucose (FDG) measured by positron emission tomography, hippocampal volume, and memory ...

journal_title：Annals of neurology

authors： Weintrob DL,Saling MM,Berkovic SF,Berlangieri SU,Reutens DC

更新日期：2002-04-01 00:00:00

abstract：:We report a prospective clinical and electroencephalographic study of 19 patients with juvenile myoclonic epilepsy and absence seizures. Absences began 1 to 9 (4.5 +/- 2.5) years before myoclonic jerks and generalized tonic-clonic seizures. Clinical manifestations during the absence ictus showed great variation, rangi...

journal_title：Annals of neurology

authors： Panayiotopoulos CP,Obeid T,Waheed G

更新日期：1989-04-01 00:00:00

abstract：:We have analyzed muscle biopsy specimens from 48 patients with biochemically proven phosphorylase deficiency (McArdle's disease) by sodium dodecylsulphate polyacrylamide gel electrophoresis (SDS-PAGE), immunoblotting, and immunotitration (enzyme-linked immunosorbent assay [ELISA]). Thirty-five of the 42 patients studi...

journal_title：Annals of neurology

authors： Servidei S,Shanske S,Zeviani M,Lebo R,Fletterick R,DiMauro S

更新日期：1988-12-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...

journal_title：Annals of neurology

authors： van Sorge NM,van den Berg LH,Geleijns K,van Strijp JA,Jacobs BC,van Doorn PA,Wokke JH,van de Winkel JG,Leusen JH,van der Pol WL

更新日期：2003-05-01 00:00:00

abstract：:Polymorphonuclear neutral protease activity (PMN-NPA) was examined in 87 patients with definite multiple sclerosis (MS) (48 active, 39 inactive), 49 patients with other neurological diseases (OND), 24 patients with immune-mediated non-neurological diseases (INND), and 32 normal subjects. PMN-NPA was found to be signif...

journal_title：Annals of neurology

authors： Guarnieri B,Lolli F,Amaducci L

更新日期：1985-11-01 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：: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：:Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...

journal_title：Annals of neurology

authors： Schon F,Hodgson TL,Mort D,Kennard C

更新日期：2001-09-01 00:00:00

abstract：OBJECTIVE:Migraine aura is sparsely studied due to the highly challenging task of capturing patients during aura. Cortical spreading depression (CSD) is likely the underlying phenomenon of aura. The possible correlation between the multifaceted phenomenology of aura symptoms and the effects of CSD on the brain has not ...

journal_title：Annals of neurology

authors： Arngrim N,Hougaard A,Ahmadi K,Vestergaard MB,Schytz HW,Amin FM,Larsson HBW,Olesen J,Hoffmann MB,Ashina M

更新日期：2017-12-01 00:00:00

abstract：:The first electrophysiological study of the human lateral geniculate nucleus (LGN), optic radiation, striate, and extrastriate visual areas is presented in the context of presurgical evaluation of three epileptic patients (Patients 1, 2, and 3). Visual-evoked potentials to pattern reversal and face presentation were r...

journal_title：Annals of neurology

authors： Krolak-Salmon P,Hénaff MA,Tallon-Baudry C,Yvert B,Guénot M,Vighetto A,Mauguière F,Bertrand O

更新日期：2003-01-01 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：:In a double-blinded, placebo-controlled, crossover study in seven mitochondrial myopathy patients (MM), we investigated whether lowering of lactate with dichloroacetate (DCA) can improve exercise tolerance and oxidative capacity in MM. DCA lowered plasma lactate at rest and during exercise (from 10.5 +/- 2.0 to 5.0 +/...

journal_title：Annals of neurology

authors： Vissing J,Gansted U,Quistorff B

更新日期：2001-05-01 00:00:00

abstract：:A 64-year-old man developed lethargy and aphasia immediately following cerebral arteriography with iothalamate meglumine. An electroencephalogram showed continuous epileptiform activity. The patient was treated with intravenous phenytoin with complete resolution of clinical symptoms and electroencephalographic epilept...

journal_title：Annals of neurology

authors： Vickrey BG,Bahls FH

更新日期：1989-02-01 00:00:00

abstract：:Ultrasound scans of three newborn infants with cerebral ischemic lesions demonstrated on computed tomographic scan showed unexpected changes in echogenicity of brain parenchyma in addition to lateralized mass effect. Areas of increased echogenicity were present adjacent to regions of infarction identified on computed ...

journal_title：Annals of neurology

authors： Wilson-Davis SL,Lo W,Filly RA

更新日期：1983-08-01 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：: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：:In Machado-Joseph disease (MJD) gene, there is a C/G polymorphism immediately after the CAG repeat; the expanded CAG repeat tract is exclusively followed by C, whereas about half of wild-type alleles are followed by G. Using this C/G polymorphism, we have engineered the small interfering RNA (siRNA) which decreased th...

journal_title：Annals of neurology

authors： Li Y,Yokota T,Matsumura R,Taira K,Mizusawa H

更新日期：2004-07-01 00:00:00

abstract：OBJECTIVE:Oral anticoagulation treatment (OAT) resumption is a therapeutic dilemma in intracerebral hemorrhage (ICH) care, particularly for lobar hemorrhages related to amyloid angiopathy. We sought to determine whether OAT resumption after ICH is associated with long-term outcome, accounting for ICH location (ie, loba...

journal_title：Annals of neurology

authors： Biffi A,Kuramatsu JB,Leasure A,Kamel H,Kourkoulis C,Schwab K,Ayres AM,Elm J,Gurol ME,Greenberg SM,Viswanathan A,Anderson CD,Schwab S,Rosand J,Testai FD,Woo D,Huttner HB,Sheth KN

更新日期：2017-11-01 00:00:00

abstract：:Extramedullary hematopoiesis (EMH) in the spinal epidural space is a rare but treatable cause of progressive paraparesis in patients with a variety of hematological and systemic disorders. We report a case of extensive thoracic epidural EMH causing progressive spastic paraparesis in a patient with agnogenic myeloid me...

journal_title：Annals of neurology

authors： Stahl SM,Ellinger G,Baringer JR

更新日期：1979-05-01 00:00:00

abstract：:Cytological evaluation of cerebrospinal fluid (CSF) is an important means of following response to intracavitary chemotherapy for leptomeningeal malignancy. We studied the feasibility of quantitative cytological evaluation by retrospective analysis of serial CSF specimens from 7 patients receiving phase I intracavitar...

journal_title：Annals of neurology

authors： Russack V,Kim S,Chamberlain MC

更新日期：1993-07-01 00:00:00