Autosomal dominant lateral temporal epilepsy: clinical and genetic study of a large Basque pedigree linked to chromosome 10q.

abstract：:This review discusses the etiology and pathogenesis of Parkinson's disease (PD). Mitochondrial respiratory failure and oxidative stress appear to be two major contributors to nigral neuronal death in PD. Complex I deficiency has been reported by several groups and appears to be one of the basic abnormalities responsib...

journal_title：Annals of neurology

authors： Mizuno Y,Yoshino H,Ikebe S,Hattori N,Kobayashi T,Shimoda-Matsubayashi S,Matsumine H,Kondo T

更新日期：1998-09-01 00:00:00

abstract：:The aim of this study was to evaluate the use of functional magnetic resonance imaging as an alternative to intraoperative electrocortical stimulation mapping for the localization of critical language areas in the temporoparietal region. We investigated several requirements that functional magnetic resonance imaging m...

journal_title：Annals of neurology

authors： Rutten GJ,Ramsey NF,van Rijen PC,Noordmans HJ,van Veelen CW

更新日期：2002-03-01 00:00:00

abstract：:Three-dimensional (volume) magnetic resonance angiography is a noninvasive technique that images the intracranial and cervical arterial vasculature without contrast agents. Twenty-four children with strokes had combined parenchymal magnetic resonance imaging and magnetic resonance angiography 1 day to 4 years after ac...

journal_title：Annals of neurology

authors： Wiznitzer M,Masaryk TJ

更新日期：1991-06-01 00:00:00

abstract：:The past decade has seen advances in the management of patients with epilepsy. The development of practical long-term electroencephalographic techniques, with or without simultaneous video recording, has increased the accuracy of diagnosis of seizure types. The technique also provides clinicians and investigators with...

journal_title：Annals of neurology

authors： So EL,Penry JK

更新日期：1981-01-01 00:00:00

abstract：:Hyperekplexia is a rare, autosomal dominant neurological disorder characterized by hypertonia, especially in infancy, and by an exaggerated startle response. This disorder is caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor (GLRA1). We previously reported two GLRA1 point mutations detected...

journal_title：Annals of neurology

authors： Shiang R,Ryan SG,Zhu YZ,Fielder TJ,Allen RJ,Fryer A,Yamashita S,O'Connell P,Wasmuth JJ

更新日期：1995-07-01 00:00:00

abstract：:Infantile spasms are generalized seizures specific to early infancy, and are believed to result from complex cortical-subcortical interactions during a critical period of development. We used positron emission tomography (PET) to determine local cerebral metabolic rates for glucose (1CMRG1c) in 44 infants with spasms,...

journal_title：Annals of neurology

authors： Chugani HT,Shewmon DA,Sankar R,Chen BC,Phelps ME

更新日期：1992-02-01 00:00:00

abstract：:Tetrabenazine is considered to act in a manner similar to reserpine to reduce the involuntary movements of tardive dyskinesia or Huntington's disease and to improve psychoses. We determined that tetrabenazine also has properties of a dopamine receptor antagonist by testing the ability of tetrabenazine to block the inh...

journal_title：Annals of neurology

authors： Login IS,Cronin MJ,MacLeod RM

更新日期：1982-09-01 00:00:00

abstract：:We prospectively recruited 10 patients who presented with urinary retention as a neurological deficit that was attributable to lateral medullary infarction. Of these, 9 patients underwent a urodynamic study, which demonstrated detrusor underactivity of the bladder in 7 patients. Urinary retention developed mainly when...

journal_title：Annals of neurology

authors： Cho HJ,Kang TH,Chang JH,Choi YR,Park MG,Choi KD,Sung SM,Park KP,Jung DS

更新日期：2015-04-01 00:00:00

abstract：:Results of case-control studies and of a prospective investigation in men suggest that consumption of coffee could protect against the risk of Parkinson's disease, but the active constituent is not clear. To address the hypothesis that caffeine is protective against Parkinson's disease, we examined the relationship of...

journal_title：Annals of neurology

authors： Ascherio A,Zhang SM,Hernán MA,Kawachi I,Colditz GA,Speizer FE,Willett WC

更新日期：2001-07-01 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：:We present a patient with hemidystonia and an abnormality of the contralateral basal ganglion seen only with positron emission tomography. A 50-year-old sinistral man suffered minor trauma to the right side of his head and neck. Within 20 minutes he developed paroxysmal intermittent dystonic posturing of his right fac...

journal_title：Annals of neurology

authors： Perlmutter JS,Raichle ME

更新日期：1984-03-01 00:00:00

abstract：:Thirty patients in whom the initial diagnosis of multiple sclerosis was clinically entertained underwent cranial magnetic resonance imaging (MRI) in close temporal relationship to cranial x-ray computed tomography (CT), electrodiagnostic studies (visual evoked responses, brainstem auditory evoked responses, and somato...

journal_title：Annals of neurology

authors： Gebarski SS,Gabrielsen TO,Gilman S,Knake JE,Latack JT,Aisen AM

更新日期：1985-05-01 00:00:00

abstract：:This paper attempts to place into perspective the present state of clinical investigation with PET in neurology. To this end we briefly review the work of the neurology group of the MRC Cyclotron Unit at Hammersmith Hospital, by reference to studies performed in normal subjects and in patients with cerebrovascular dis...

journal_title：Annals of neurology

authors： Frackowiak RS,Wise RJ,Gibbs JM,Jones T

更新日期：1984-01-01 00:00:00

abstract：:We present our approach to the diagnosis of pediatric neurotransmitter diseases exemplified by the differential diagnosis of children presenting with dystonia. This approach is based upon the primary aim of early diagnosis of treatable conditions and the need for a logical series of investigations. We have tried to be...

journal_title：Annals of neurology

authors： Assmann B,Surtees R,Hoffmann GF

更新日期：2003-01-01 00:00:00

abstract：:Mutations in AbetaPP cause deposition of Abeta amyloid fibrils in brain parenchyma and cerebral vessels, resulting in Alzheimer's disease (AD) and/or cerebral amyloid angiopathy (CAA). We report a novel mutation (L705V) within the Abeta sequence of AbetaPP in a family with autosomal dominant, recurrent intracerebral h...

journal_title：Annals of neurology

authors： Obici L,Demarchi A,de Rosa G,Bellotti V,Marciano S,Donadei S,Arbustini E,Palladini G,Diegoli M,Genovese E,Ferrari G,Coverlizza S,Merlini G

更新日期：2005-10-01 00:00:00

abstract：OBJECTIVE:The Veterans Administration Cooperative Studies Program #468, a multicenter study that randomized Parkinson's disease (PD) patients to either subthalamic nucleus (STN) or globus pallidus internus (GPi) deep brain stimulation (DBS), found that stimulation at either target provided similar overall motoric benef...

journal_title：Annals of neurology

authors： Katz M,Luciano MS,Carlson K,Luo P,Marks WJ Jr,Larson PS,Starr PA,Follett KA,Weaver FM,Stern MB,Reda DJ,Ostrem JL,CSP 468 study group.

更新日期：2015-04-01 00:00:00

abstract：OBJECTIVE:We compared outcomes after treatment with direct oral anticoagulants (DOACs) and vitamin K antagonists (VKAs) in patients with atrial fibrillation (AF) and a recent cerebral ischemia. METHODS:We conducted an individual patient data analysis of seven prospective cohort studies. We included patients with AF an...

journal_title：Annals of neurology

authors： Seiffge DJ,Paciaroni M,Wilson D,Koga M,Macha K,Cappellari M,Schaedelin S,Shakeshaft C,Takagi M,Tsivgoulis G,Bonetti B,Kallmünzer B,Arihiro S,Alberti A,Polymeris AA,Ambler G,Yoshimura S,Venti M,Bonati LH,Muir KW,Ya

更新日期：2019-06-01 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：: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：:Ten patients with sporadic olivopontocerebellar atrophy and autonomic failure were studied with positron emission tomography. Subjects underwent both an [11C]diprenorphine and an [18F]fluorodopa scan. The mean caudate-occipital uptake ratio for [11C]diprenorphine was significantly reduced to 88% and the putamen-occipi...

journal_title：Annals of neurology

authors： Rinne JO,Burn DJ,Mathias CJ,Quinn NP,Marsden CD,Brooks DJ

更新日期：1995-05-01 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：: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：:The mechanism whereby dystrophin deficiency leads to excessive fibrosis and muscle degeneration is not known. The absence of dystrophin in skeletal muscle is associated with reduced plasma membrane stability as evidenced by elevated serum levels of the cytoplasmic enzyme creatine kinase. Basic fibroblast growth factor...

journal_title：Annals of neurology

authors： D'Amore PA,Brown RH Jr,Ku PT,Hoffman EP,Watanabe H,Arahata K,Ishihara T,Folkman J

更新日期：1994-03-01 00:00:00

abstract：:Basis pontis lacunes cause contralateral but rarely ipsilateral ataxia. We explored this phenomenon with isotope tract tracing in the rhesus monkey. Labeled pontocerebellar fibers cross midline and disperse widely in the opposite hemipons before coalescing in the brachium pontis. This anatomical arrangement suggests t...

journal_title：Annals of neurology

authors： Schmahmann JD,Rosene DL,Pandya DN

更新日期：2004-04-01 00:00:00

abstract：:Recent neuroepidemiological studies of endemic tropical spastic paraparesis (TSP) have confirmed the existence of high-prevalence foci in several tropical islands, including Jamaica and Martinique in the Caribbean, Tumaco off the Pacific coast of Colombia, and the Seychelles in the Indian Ocean. There is a net prepond...

journal_title：Annals of neurology

authors： Román GC

更新日期：1988-01-01 00:00:00

abstract：OBJECTIVE:Predicting hemorrhagic transformation (HT) is critical in the setting of recanalization therapy for acute stroke. Dedicated magnetic resonance imaging (MRI) sequences for detection of increased blood-brain barrier (BBB) permeability recently have been developed. We evaluated the ability of a novel MRI permeab...

journal_title：Annals of neurology

authors： Bang OY,Buck BH,Saver JL,Alger JR,Yoon SR,Starkman S,Ovbiagele B,Kim D,Ali LK,Sanossian N,Jahan R,Duckwiler GR,Viñuela F,Salamon N,Villablanca JP,Liebeskind DS

更新日期：2007-08-01 00:00:00

abstract：OBJECTIVE:Creatine kinase (CK) levels are increased on dried blood spots in newborns related to the birthing process. As a marker for newborn screening, CK in Duchenne muscular dystrophy (DMD) results in false-positive testing. In this report, we introduce a 2-tier system using the dried blood spot to first assess CK w...

journal_title：Annals of neurology

authors： Mendell JR,Shilling C,Leslie ND,Flanigan KM,al-Dahhak R,Gastier-Foster J,Kneile K,Dunn DM,Duval B,Aoyagi A,Hamil C,Mahmoud M,Roush K,Bird L,Rankin C,Lilly H,Street N,Chandrasekar R,Weiss RB

更新日期：2012-03-01 00:00:00

abstract：:A predominantly sensory peripheral neuropathy is common with human immunodeficiency virus (HIV) infection, but the cause is unknown. Formalin-fixed dorsal root ganglia (DRG), obtained at postmortem from patients with neuropathy and HIV infection and from control subjects, were examined for the presence of HIV DNA by u...

journal_title：Annals of neurology

authors： Brannagan TH 3rd,Nuovo GJ,Hays AP,Latov N

更新日期：1997-09-01 00:00:00

abstract：:We hypothesized that automated assessment of collaterals on computed tomography perfusion can predict the rate of infarct growth during transfer from a primary to a comprehensive stroke center for endovascular stroke treatment. We identified consecutive patients (N = 28) and assessed their collaterals based on the hyp...

journal_title：Annals of neurology

authors： Guenego A,Mlynash M,Christensen S,Kemp S,Heit JJ,Lansberg MG,Albers GW

更新日期：2018-10-01 00:00:00

abstract：:Two brothers with profound neonatal hypotonia and hyporeflexia and electrodiagnostic testing consistent with lower motor neuron pathology were found to have a leukodystrophy. Using single-strand conformational polymorphism analysis and direct sequencing, a mutation within exon 3 of the gene encoding proteolipid protei...

journal_title：Annals of neurology

authors： Kaye EM,Doll RF,Natowicz MR,Smith FI

更新日期：1994-12-01 00:00:00