Partial epilepsy with pericentral spikes: a new familial epilepsy syndrome with evidence for linkage to chromosome 4p15.

abstract：OBJECTIVE:Charcot-Marie-Tooth type 4J (CMT4J) is a rare autosomal recessive neuropathy caused by mutations in FIG4 that result in loss of FIG4 protein. This study investigates the natural history and mechanisms of segmental demyelination in CMT4J. METHODS:Over the past 9 years, we have enrolled and studied a cohort of...

journal_title：Annals of neurology

authors： Hu B,McCollum M,Ravi V,Arpag S,Moiseev D,Castoro R,Mobley B,Burnette B,Siskind C,Day J,Yawn R,Feely S,Li Y,Yan Q,Shy M,Li J

更新日期：2018-04-01 00:00:00

abstract：:Fuel utilization in two adult patients with the myopathic form of very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency and five healthy subjects was investigated with stable isotopes during exercise at 50% of VO2max. The findings indicate that residual VLCAD activity in the patients is sufficient to maintain norm...

journal_title：Annals of neurology

authors： ØRngreen MC,Nørgaard MG,Sacchetti M,van Engelen BG,Vissing J

更新日期：2004-08-01 00:00:00

abstract：:Antibodies to Ma1 and Ma2 proteins identify a paraneoplastic disorder that affects the limbic system, brain stem, and cerebellum. Preliminary studies suggested the existence of other Ma proteins and different patterns of immune response associated with distinct neurologic symptoms and cancers. In this study, our aim w...

journal_title：Annals of neurology

authors： Rosenfeld MR,Eichen JG,Wade DF,Posner JB,Dalmau J

更新日期：2001-09-01 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: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：OBJECTIVE:Antiepileptic drugs (AEDs) are important for the treatment of epilepsy, psychiatric diseases, and pain syndromes. Small studies have suggested that AED treatment reduces serum levels of folate and vitamin B12. METHODS:This prospective monocenter study aimed at testing the hypothesis that AED treatment is ass...

journal_title：Annals of neurology

authors： Linnebank M,Moskau S,Semmler A,Widman G,Stoffel-Wagner B,Weller M,Elger CE

更新日期：2011-02-01 00:00:00

abstract：:We studied rhesus monkeys with hemiparkinsonism or bilateral parkinsonism produced by unilateral or bilateral intracarotid administration of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine. Using a standardized clinical rating scale, 4 hemiparkinsonian monkeys showed a 13 to 56% (mean, 36%) spontaneous improvement during...

journal_title：Annals of neurology

authors： Kurlan R,Kim MH,Gash DM

更新日期：1991-06-01 00:00:00

abstract：:We evaluated the role of positron emission tomography (PET) with [18F]deoxyglucose (FDG) (FDG-PET) for planning surgery in 53 patients who had temporal lobectomy for uncontrolled seizures at National Institutes of Health from 1981 to 1990. Investigators blinded to PET data used results of telemetered video-electroence...

journal_title：Annals of neurology

authors： Theodore WH,Sato S,Kufta C,Balish MB,Bromfield EB,Leiderman DB

更新日期：1992-12-01 00:00:00

abstract：:In 9 patients with progressive supranuclear palsy and in 27 controls, dopamine and homovanillic acid concentrations, choline acetyltransferase (CAT) activity, and the number of [3H]spiperone and [3H]quinuclidinyl benzilate binding sites were measured post mortem in the striatum (caudate nucleus, putamen, and nucleus a...

journal_title：Annals of neurology

authors： Ruberg M,Javoy-Agid F,Hirsch E,Scatton B,LHeureux R,Hauw JJ,Duyckaerts C,Gray F,Morel-Maroger A,Rascol A

更新日期：1985-11-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy is the most common clinical presentation of JC virus (JCV)-associated central nervous system (CNS) disease and has emerged as a major safety concern in multiple sclerosis patients treated with the monoclonal antibody natalizumab. Here we report clinical, radiological, and his...

journal_title：Annals of neurology

authors： Schippling S,Kempf C,Büchele F,Jelcic I,Bozinov O,Bont A,Linnebank M,Sospedra M,Weller M,Budka H,Martin R

更新日期：2013-10-01 00:00:00

abstract：:Unilateral lesions of the occipital visual areas performed on postnatal day 5 (P5) in the ferret are not compensated by the appearance, in the lesioned hemisphere, of visual responses at ectopic locations. Instead, when parts of the visual areas are spared, they show abnormal retinotopic organizations; furthermore, ca...

journal_title：Annals of neurology

authors： Restrepo CE,Manger PR,Spenger C,Innocenti GM

更新日期：2003-07-01 00:00:00

abstract：:We report FK506-induced neurotoxicity in 14 of 44 consecutive patients following orthoptic liver transplantation. In 10 of these 14 patients, postural hand tremors were found in the first weeks following surgery, transient apraxia of speech in 3, and generalized tonic-clonic seizures were noted in 2 patients. Other ma...

journal_title：Annals of neurology

authors： Wijdicks EF,Wiesner RH,Dahlke LJ,Krom RA

更新日期：1994-04-01 00:00:00

abstract：:Using the technique of transcranial magnetic stimulation over the motor areas of cortex and recording electromyographic (EMG) responses from the first dorsal interosseous muscle, we measured the excitability of corticocortical inhibitory circuits at rest using a double pulse paradigm, in 11 patients with Parkinson's d...

journal_title：Annals of neurology

authors： Ridding MC,Inzelberg R,Rothwell JC

更新日期：1995-02-01 00:00:00

abstract：OBJECTIVE:Accurate identification of the ischemic penumbra, the therapeutic target in acute clinical stroke, is of critical importance to identify patients who might benefit from reperfusion therapies beyond the established time windows. Therefore, we aimed to validate magnetic resonance imaging (MRI) mismatch-based pe...

journal_title：Annals of neurology

authors： Zaro-Weber O,Fleischer H,Reiblich L,Schuster A,Moeller-Hartmann W,Heiss WD

更新日期：2019-06-01 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：:Urinary urgency and frequency are common in α-synucleinopathies such as Parkinson disease, Lewy body dementia, and multiple system atrophy. These symptoms cannot be managed with dopamine therapy, and their underlying pathophysiology is unclear. We show that in individuals with Parkinson disease, Lewy body dementia, or...

journal_title：Annals of neurology

authors： VanderHorst VG,Samardzic T,Saper CB,Anderson MP,Nag S,Schneider JA,Bennett DA,Buchman AS

更新日期：2015-07-01 00:00:00

abstract：:We report thirty-three patients with alternating skew deviation on lateral gaze. The right eye was hypertropic in right gaze, and the left eye was hypertropic in left gaze. Most patients had associated downbeat nystagmus and ataxia and were diagnosed as having lesions of the cerebellar pathways or the cervicomedullary...

journal_title：Annals of neurology

authors： Moster ML,Schatz NJ,Savino PJ,Benes S,Bosley TM,Sergott RC

更新日期：1988-02-01 00:00:00

abstract：:We sought to determine whether medullary serotonergic neurons were affected in multiple system atrophy (MSA). Immunostaining for tryptophan hydroxylase was performed on serial 50 microm sections of the medulla of brains obtained at autopsy from six control subjects, eight subjects with clinical diagnosis of MSA, and f...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM,Low PA,Parisi JE

更新日期：2004-03-01 00:00:00

abstract：:During passive extension of the elbow, the triceps muscle normally shows a burst of electromyographic activity. This shortening reaction (SR) is known to be exaggerated in extrapyramidal disease states, but the effects of cerebellar disease are unknown. The SR was measured in both arms of a patient with hemiataxia, th...

journal_title：Annals of neurology

authors： Angel RW

更新日期：1982-03-01 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：OBJECTIVE:Deletions of CACNA1A, encoding the α1 subunit of CaV 2.1 channels, cause epilepsy with ataxia in humans. Whereas the deletion of Cacna1a in γ-aminobutyric acidergic (GABAergic) interneurons (INs) derived from the medial ganglionic eminence (MGE) impairs cortical inhibition and causes generalized seizures in N...

journal_title：Annals of neurology

authors： Jiang X,Lupien-Meilleur A,Tazerart S,Lachance M,Samarova E,Araya R,Lacaille JC,Rossignol E

更新日期：2018-09-01 00:00:00

abstract：:The etiology of sudden death in patients with epilepsy remains unclear. Previous studies in a well-established sheep model of status epilepticus showed that more than one-third of the unsedated animals died within 5 minutes of seizure onset due to hypoventilation. The relative contributions of airway obstruction and c...

journal_title：Annals of neurology

authors： Johnston SC,Siedenberg R,Min JK,Jerome EH,Laxer KD

更新日期：1997-10-01 00:00:00

abstract：:The nucleotide sequence of human T-lymphotropic virus type I (HTLV-I) in central nervous system tissue was determined in 3 autopsy cases with HTLV-I-associated myelopathy (HAM)/tropical spastic paraparesis (TSP) and 1 seropositive carrier without HAM/TSP but with multiple sclerosis. All HAM/TSP samples (3 spinal cords...

journal_title：Annals of neurology

authors： Kira J,Koyanagi Y,Yamada T,Itoyama Y,Tateishi J,Akizuki S,Kishikawa M,Baba E,Nakamura M,Suzuki J

更新日期：1994-08-01 00:00:00

abstract：:Layer II of the entorhinal cortex contains the cells of origin for the perforant path, plays a critical role in memory processing, and consistently degenerates in end-stage Alzheimer's disease. The extent to which neuron loss in layer II of entorhinal cortex is related to mild cognitive impairment without dementia has...

journal_title：Annals of neurology

authors： Kordower JH,Chu Y,Stebbins GT,DeKosky ST,Cochran EJ,Bennett D,Mufson EJ

更新日期：2001-02-01 00:00:00

abstract：:In this postmortem study, we investigated the relationship between multiple sclerosis (MS) lesions in the hypothalamus and the state of activity of corticotropin-releasing hormone (CRH)-producing neurons that control the hypothalamus-pituitary-adrenal (HPA) axis. A high incidence (15/16) of MS lesions was found in the...

journal_title：Annals of neurology

authors： Huitinga I,Erkut ZA,van Beurden D,Swaab DF

更新日期：2004-01-01 00:00:00

abstract：OBJECTIVE:To create a data-driven computational model that identifies brain regions most frequently influenced by successful deep brain stimulation (DBS) of the globus pallidus (GP) for advanced, medication-resistant, generalized dystonia. METHODS:We studied a retrospective cohort of 21 DYT1 primary dystonia patients ...

journal_title：Annals of neurology

authors： Cheung T,Noecker AM,Alterman RL,McIntyre CC,Tagliati M

更新日期：2014-07-01 00:00:00

abstract：OBJECTIVE:To explore the prognostic implications of epilepsy duration and age at surgery for seizure outcomes after frontal lobe epilepsy (FLE) surgery. METHODS:We reviewed 158 patients who underwent FLE surgery from 1995 to 2010. The primary outcome was seizure freedom at last follow-up (Engel class IA). Analyses emp...

journal_title：Annals of neurology

authors： Simasathien T,Vadera S,Najm I,Gupta A,Bingaman W,Jehi L

更新日期：2013-05-01 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：: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：OBJECTIVE:The effect of prestroke aspirin use on initial severity, hemorrhagic transformation, and functional outcome of ischemic stroke is uncertain. METHODS:Using a multicenter stroke registry database, patients with acute ischemic stroke of three subtypes (large artery atherosclerosis [LAA], small vessel occlusion ...

journal_title：Annals of neurology

authors： Park JM,Kang K,Cho YJ,Hong KS,Lee KB,Park TH,Lee SJ,Ko Y,Han MK,Lee J,Cha JK,Kim DH,Kim DE,Kim JT,Choi JC,Yu KH,Lee BC,Lee JS,Lee J,Gorelick PB,Bae HJ,CRCS-5 Investigators.

更新日期：2016-04-01 00:00:00