Clinical and genetic analysis of a large pedigree with juvenile myoclonic epilepsy.

abstract：:In healthy individuals, motor training elicits cortical plasticity that encodes the kinematic details of the practiced movements and is thought to underlie recovery of function after stroke. The influence of age on this form of plasticity is incompletely understood. We studied 55 healthy subjects and identified a subs...

journal_title：Annals of neurology

authors： Sawaki L,Yaseen Z,Kopylev L,Cohen LG

更新日期：2003-04-01 00:00:00

abstract：:In an attempt to define prognostic indicators of intelligence and seizures in the hemiparetic cerebral palsy population, birth histories, electroencephalograms, and computerized tomographic (CT) scans were reviewed in 52 children with hemiparetic cerebral palsy. Cases were excluded when the hemiparesis might have been...

journal_title：Annals of neurology

authors： Cohen ME,Duffner PK

更新日期：1981-04-01 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：:To determine the influence of chronic ethanol intake on the central nervous system, we studied 40 asymptomatic, well-nourished, chronic alcoholics (mean age, 42.6 +/- 9.1 years) and 20 age-, sex-, and education-matched control subjects. Studies included neuropsychological testing, visual and short-latency auditory evo...

journal_title：Annals of neurology

authors： Nicolás JM,Estruch R,Salamero M,Orteu N,Fernandez-Solà J,Sacanella E,Urbano-Márquez A

更新日期：1997-05-01 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：:Inborn errors of urea synthesis can present in the newborn period as a catastrophic illness or later in childhood or adulthood with an indolent course punctuated by hyperammonemic episodes. Because symptoms mimic other neuropsychiatric disorders, it is common for there to be a delay in diagnosis, often with dire conse...

journal_title：Annals of neurology

authors： Batshaw ML

更新日期：1994-02-01 00:00:00

abstract：OBJECTIVE:Brain-computer interfaces (BCIs) could potentially be used to interact with pathological brain signals to intervene and ameliorate their effects in disease states. Here, we provide proof-of-principle of this approach by using a BCI to interpret pathological brain activity in patients with advanced Parkinson d...

journal_title：Annals of neurology

authors： Little S,Pogosyan A,Neal S,Zavala B,Zrinzo L,Hariz M,Foltynie T,Limousin P,Ashkan K,FitzGerald J,Green AL,Aziz TZ,Brown P

更新日期：2013-09-01 00:00:00

abstract：:Hemophilus influenzae is the most common cause of bacterial meningitis in children, and a high percentage of survivors are at risk for long-term sequelae. To explore the mechanisms responsible for these sequelae, a neonatal rat model was used to define the behavioral, electrophysiological, and biochemical changes foll...

journal_title：Annals of neurology

authors： Konkol RJ,Chapman L,Breese GR,Collier AM,Kilts C,Finley C,Vogel RR,Mailman RB,Bendeich EG

更新日期：1987-04-01 00:00:00

abstract：:Saturated very long-chain fatty acids in erythrocyte membranes, blood plasma, and mononuclear cells were studied in 4 patients with childhood-adolescent adrenoleukodystrophy and 4 patients with adult adrenoleukodystrophy and 19 normal control subjects by using high-performance liquid chromatography. Ratios of C26:0 to...

journal_title：Annals of neurology

authors： Antoku Y,Koike F,Ohtsuka Y,Sakai T,Tsukamoto K,Nagara H,Iwashita H,Goto I

更新日期：1991-07-01 00:00:00

abstract：OBJECTIVE:T2-weighted magnetic resonance imaging is a sensitive tool for monitoring progression of multiple sclerosis, but it does not provide information on the severity of the underlying tissue damage. Measurement of T1 hypointensities and magnetization transfer ratio (MTR) can potentially distinguish lesions with mo...

journal_title：Annals of neurology

authors： Fisher E,Chang A,Fox RJ,Tkach JA,Svarovsky T,Nakamura K,Rudick RA,Trapp BD

更新日期：2007-09-01 00:00:00

abstract：OBJECTIVE:Neonatal white matter injury (NWMI) is a lesion found in preterm infants that can lead to cerebral palsy. Although antagonists of bone morphogenetic protein (BMP) signaling, such as Noggin, promote oligodendrocyte precursor cell (OPC) production after hypoxic-ischemic (HI) injury, the downstream functional ta...

journal_title：Annals of neurology

authors： Sabo JK,Heine V,Silbereis JC,Schirmer L,Levison SW,Rowitch DH

更新日期：2017-04-01 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：OBJECTIVE:Somnambulism affects up to 4% of adults and constitutes one of the leading causes of sleep-related violence and self-injury. Diagnosing somnambulism with objective instruments is often difficult because episodes rarely occur in the laboratory. Because sleep deprivation can precipitate sleepwalking, we aimed t...

journal_title：Annals of neurology

authors： Zadra A,Pilon M,Montplaisir J

更新日期：2008-04-01 00:00:00

abstract：:Brainstem auditory evoked responses (BAERs) were recorded from 202 patients with definite, probable, or possible multiple sclerosis (MS). Definitions of abnormality were based only on interwave separations and the wave I/wave V amplitude ratio. Thirty-two percent of the patients had abnormal BAERs, and the presence of...

journal_title：Annals of neurology

authors： Chiappa KH,Harrison JL,Brooks EB,Young RR

更新日期：1980-02-01 00:00:00

abstract：:Deposition of fibrillar amyloid beta protein (A beta) is increased in brains of patients with Alzheimer's disease. Concentrations of A beta were measured in cerebrospinal fluid with an enzyme-linked immunosorbent assay in 10 neurological patients free from neurodegenerative disease, 28 patients with Parkinson's diseas...

journal_title：Annals of neurology

authors： van Gool WA,Kuiper MA,Walstra GJ,Wolters EC,Bolhuis PA

更新日期：1995-02-01 00:00:00

abstract：:The frequency with which patients presenting with acute or chronic noncompressive cord syndromes subsequently develop multiple sclerosis is uncertain. Magnetic resonance imaging (MRI) was performed on 121 patients with such syndromes to determine the frequency of asymptomatic brain lesions and to assess the sensitivit...

journal_title：Annals of neurology

authors： Miller DH,McDonald WI,Blumhardt LD,du Boulay GH,Halliday AM,Johnson G,Kendall BE,Kingsley DP,MacManus DG,Moseley IF

更新日期：1987-12-01 00:00:00

abstract：:To elucidate immunopathogenetic roles of aquaporin-4 antibodies in the cerebrospinal fluid (CSF) of neuromyelitis optica spectrum disorders (NMOSD), we analyzed aquaporin-4 antibody titers, cellular and inflammatory markers in the CSF collected from 11 aquaporin-4 antibody seropositive patients. The CSF aquaporin-4 an...

journal_title：Annals of neurology

authors： Sato DK,Callegaro D,de Haidar Jorge FM,Nakashima I,Nishiyama S,Takahashi T,Simm RF,Apostolos-Pereira SL,Misu T,Steinman L,Aoki M,Fujihara K

更新日期：2014-08-01 00:00:00

abstract：:Stereotaxic injection of kainic acid into rat striatum produces neuronal degeneration and neurochemical alterations resembling Huntington's disease (HD). Since correction of the deficiency in gamma-aminobutyric acid (GABA) in HD may be of therapeutic value, the efficacy of drugs that inhibit the GABA-degrading enzyme ...

journal_title：Annals of neurology

authors： Schwarcz R,Bennett JP Jr,Coyle JT

更新日期：1977-10-01 00:00:00

abstract：:In Alzheimer's disease (AD), loss of cortical and hippocampal choline acetyltransferase (ChAT) activity has been correlated with dementia severity and disease duration, and it forms the basis for current therapies. However, the extent to which reductions in ChAT activity are associated with early cognitive decline has...

journal_title：Annals of neurology

authors： DeKosky ST,Ikonomovic MD,Styren SD,Beckett L,Wisniewski S,Bennett DA,Cochran EJ,Kordower JH,Mufson EJ

更新日期：2002-02-01 00:00:00

abstract：:Subcutaneous application of interferon-beta1b (IFN-beta1b) is an established therapy for patients with relapsing-remitting multiple sclerosis (RRMS), but early side effects are still a major concern. In vitro studies with myelin basic protein (MBP)-specific T-cell lines revealed a synergistic suppressive effect of IFN...

journal_title：Annals of neurology

authors： Weber F,Polak T,Günther A,Kubuschok B,Janovskaja J,Bitsch A,Poser S,Rieckmann P

更新日期：1998-07-01 00:00:00

abstract：:The integrity of the hypothalamic neuroendocrine dopaminergic neurons in Parkinson's disease was assessed by comparing the numbers and distribution of melanin-pigmented neurons in the arcuate and periventricular nuclei in 7 parkinsonian and 5 normal brains. No significant differences were observed. In contrast to theo...

journal_title：Annals of neurology

authors： Matzuk MM,Saper CB

更新日期：1985-11-01 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：:Detrusor hyperreflexia is a relevant clinical symptom for patients suffering from Parkinson's disease. In a series of 16 patients, we demonstrated that subthalamic deep brain stimulation has a significant and urodynamically recordable effect leading to a normalization of pathologically increased bladder sensibility. ...

journal_title：Annals of neurology

authors： Seif C,Herzog J,van der Horst C,Schrader B,Volkmann J,Deuschl G,Juenemann KP,Braun PM

更新日期：2004-01-01 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：:Brains from male cases with dyslexia show symmetry of the planum temporale and predominantly left-sided cerebrocortical microdysgenesis. We now report on three women with dyslexia. In all brains, the planum temporale was again symmetrical. Also, in two of the brains, multiple foci of cerebrocortical glial scarring wer...

journal_title：Annals of neurology

authors： Humphreys P,Kaufmann WE,Galaburda AM

更新日期：1990-12-01 00:00:00

abstract：:Sera from 6 of 12 patients with paraneoplastic cerebellar degeneration (PCD) contained anti-Purkinje cell antibodies, as determined by indirect immunofluorescence on frozen sections of normal human cerebellum. Samples of cerebrospinal fluid from 2 of the patients with serum antibodies were tested, and both specimens c...

journal_title：Annals of neurology

authors： Jaeckle KA,Graus F,Houghton A,Cardon-Cardo C,Nielsen SL,Posner JB

更新日期：1985-11-01 00:00:00

abstract：OBJECTIVE:Migraine with aura is a severe debilitating neurological disorder with few relatively specific therapeutic options. METHODS:We used amiloride, a blocker of epithelial sodium channels, to evaluate its pharmacological potential and explored the biology of a potential mechanism of action in well-established exp...

journal_title：Annals of neurology

authors： Holland PR,Akerman S,Andreou AP,Karsan N,Wemmie JA,Goadsby PJ

更新日期：2012-10-01 00:00:00

abstract：OBJECTIVE:Cerebellar dysfunction in multiple sclerosis (MS) contributes significantly to disability, is relatively refractory to symptomatic therapy, and often progresses despite treatment with disease-modifying agents. We previously observed that sodium channel Nav1.8, whose expression is normally restricted to the pe...

journal_title：Annals of neurology

authors： Shields SD,Cheng X,Gasser A,Saab CY,Tyrrell L,Eastman EM,Iwata M,Zwinger PJ,Black JA,Dib-Hajj SD,Waxman SG

更新日期：2012-02-01 00:00:00

abstract：:A 71-year-old woman presented with a short history of episodes of severe left-sided orbital and temporal pain in paroxysms lasting 60 to 90 seconds, and accompanied by ipsilateral lacrimation of the eye, rhinorrhea, and conjunctival injection. Results of clinical examination and structural imaging were normal and a cl...

journal_title：Annals of neurology

authors： May A,Bahra A,Büchel C,Turner R,Goadsby PJ

更新日期：1999-11-01 00:00:00

abstract：:Gene therapy methods have continued to develop rapidly, and many initial limitations that hampered clinical application have been overcome. Thus serious consideration of clinical application of gene therapy is warranted for selected disorders in which the pathogenesis is well defined. Parkinson's disease has been the ...

journal_title：Annals of neurology

authors： Kang UJ,Nakamura K

更新日期：2003-01-01 00:00:00