Complete remission in nonsyndromic childhood-onset epilepsy.

abstract：OBJECTIVE:The dose-response effects of dysferlin transgenesis were analyzed to determine if the dysferlin-deficient myopathies are good candidates for gene replacement therapy. METHODS:We have generated 3 lines of transgenic mice, expressing low, mid, and high levels of full-length human dysferlin from a muscle-specif...

journal_title：Annals of neurology

authors： Glover LE,Newton K,Krishnan G,Bronson R,Boyle A,Krivickas LS,Brown RH Jr

更新日期：2010-03-01 00:00:00

abstract：:Adult polyglucosan body disease (APBD) is a late-onset, slowly progressive disorder of the nervous system caused by glycogen branching enzyme (GBE) deficiency in a subgroup of patients of Ashkenazi Jewish origin. Similar biochemical finding is shared by glycogen storage disease type IV (GSD IV) that, in contrast to AP...

journal_title：Annals of neurology

authors： Lossos A,Meiner Z,Barash V,Soffer D,Schlesinger I,Abramsky O,Argov Z,Shpitzen S,Meiner V

更新日期：1998-12-01 00:00:00

abstract：:Cognitive and extrapyramidal effects of cholinomimetic therapy were evaluated in 8 patients with progressive supranuclear palsy. Each was randomized to a 10-day double-blind crossover trial of physostigmine and placebo. Physostigmine treatment was associated with marginal and inconsistent changes in long-term memory, ...

journal_title：Annals of neurology

authors： Litvan I,Gomez C,Atack JR,Gillespie M,Kask AM,Mouradian MM,Chase TN

更新日期：1989-09-01 00:00:00

abstract：:We sought to determine whether the putative pontine micturition center in the human dorsal pons contains corticotrophin-releasing factor (CRF) neurons, and whether these neurons are depleted in patients with multiple system atrophy and bladder dysfunction. Brains were obtained at autopsy from 4 control subjects and 4 ...

journal_title：Annals of neurology

authors： Benarroch EE,Schmeichel AM

更新日期：2001-11-01 00:00:00

abstract：:Emotional blunting can be found after cerebellar lesions. However, the mechanism of such a modification is not clear. We present a patient with emotional flattening and increased risk taking after left cerebellar infarct who had an impaired autonomic reactivity to negative as compared with positive reinforcement. This...

journal_title：Annals of neurology

authors： Annoni JM,Ptak R,Caldara-Schnetzer AS,Khateb A,Pollermann BZ

更新日期：2003-05-01 00:00:00

abstract：OBJECTIVE:In multiple sclerosis (MS), cerebral gray matter (GM) atrophy correlates more strongly than white matter (WM) atrophy with disability. The corresponding relationships in the spinal cord (SC) are unknown due to technical limitations in assessing SC GM atrophy. Using phase-sensitive inversion recovery (PSIR) ma...

journal_title：Annals of neurology

authors： Schlaeger R,Papinutto N,Panara V,Bevan C,Lobach IV,Bucci M,Caverzasi E,Gelfand JM,Green AJ,Jordan KM,Stern WA,von Büdingen HC,Waubant E,Zhu AH,Goodin DS,Cree BA,Hauser SL,Henry RG

更新日期：2014-10-01 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：:Very long chain acyl-coenzyme A (acyl-CoA) dehydrogenase (VLCAD) deficiency is a severe disorder of mitochondrial beta-oxidation in infants. We report adult onset of attacks of painful rhabdomyolysis. Gas chromatography identified strongly elevated levels of tetradecenoic acid, 14:1(n-9), tetradecadienoic acid, 14:2(n...

journal_title：Annals of neurology

authors： Smelt AH,Poorthuis BJ,Onkenhout W,Scholte HR,Andresen BS,van Duinen SG,Gregersen N,Wintzen AR

更新日期：1998-04-01 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：: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：:WAIS performance was compared in 35 pairs of left- and right-handed subjects who had been individually matched for lateralization, cause of brain damage, age, education, and gender. WAIS results were similar in the two groups as well as in two subgroups of subjects with unilateral brain damage. No differences between ...

journal_title：Annals of neurology

authors： Todd J,Satz P

更新日期：1977-11-01 00:00:00

abstract：:To characterize the protein composition of degenerating neurons in Alzheimer disease, enriched fractions of isolated cortical neurons from postmortem Alzheimer brain were compared by ultrastructural and biochemical techniques to neuronal isolates from aged normal controls and from patients with the nonfibrillary degen...

journal_title：Annals of neurology

authors： Selkoe DJ

更新日期：1980-11-01 00:00:00

abstract：:We studied local cerebral blood flow, as measured by autoradiography with digital image processing and by tissue morphology, in six rats 4 hours after occlusion of the proximal middle cerebral artery. A consistent, three-dimensional pattern of graded reductions in local cerebral blood flow involved the affected hemisp...

journal_title：Annals of neurology

authors： Tyson GW,Teasdale GM,Graham DI,McCulloch J

更新日期：1984-06-01 00:00:00

abstract：:We measured brain acetylcholinesterase activity in 30 patients with Alzheimer's disease (AD) and 14 age-matched controls by positron emission tomography (PET) and using a carbon 11-labeled acetylcholine analogue. Seven AD patients had repeat PET scans. The k3 values were calculated as an index of acetylcholinesterase ...

journal_title：Annals of neurology

authors： Shinotoh H,Namba H,Fukushi K,Nagatsuka S,Tanaka N,Aotsuka A,Ota T,Tanada S,Irie T

更新日期：2000-08-01 00:00:00

abstract：:Direct DNA tests for mutations in neurogenetic disorders are establishing a new era in diagnostic neurology. These highly accurate and specific tests will greatly improve diagnosis and genetic counseling, lead to more accurate assessment of prognosis, and reduce the cost of diagnostic evaluations. However, the use and...

journal_title：Annals of neurology

authors： Bird TD,Bennett RL

更新日期：1995-08-01 00:00:00

abstract：OBJECTIVE:To examine age-related changes in the neural systems for reading in nonimpaired and dyslexic children and adolescents. METHODS:Functional magnetic resonance imaging was used to study age-related changes in the neural systems for reading in a cross-sectional sample of 232 right-handed children 7 to 18 years o...

journal_title：Annals of neurology

authors： Shaywitz BA,Skudlarski P,Holahan JM,Marchione KE,Constable RT,Fulbright RK,Zelterman D,Lacadie C,Shaywitz SE

更新日期：2007-04-01 00:00:00

abstract：:Using two-color flow cytometric analysis, we studied peripheral blood lymphocyte subsets in 15 patients with human T-cell lymphotropic virus type I-associated myelopathy. The percentage of CD4+ 4B4+ cells (helper inducer T cell) was significantly increased in the patients with the myelopathy, compared with 16 healthy ...

journal_title：Annals of neurology

authors： Itoyama Y,Kira J,Fujii N,Goto I,Yamamoto N

更新日期：1989-08-01 00:00:00

abstract：:From a population-based sample of 15,504 patients attending Canadian multiple sclerosis (MS) clinics, we have determined the frequency of conjugal MS and have estimated the recurrence risk in offspring of such matings. Twenty-three MS cases were found among 13,550 spouses of study probands for a crude conjugal rate of...

journal_title：Annals of neurology

authors： Ebers GC,Yee IM,Sadovnick AD,Duquette P

更新日期：2000-12-01 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：:A chronic remitting-relapsing form of experimental allergic encephalomyelitis (EAE) has been produced in monkeys sensitized to homologous myelin basic protein in Freund's complete adjuvants by the technique of suboptimal treatment after the onset of disease. Not only does the clinical course resemble that of human mul...

journal_title：Annals of neurology

authors： Shaw CM,Alvord EC Jr,Hruby S

更新日期：1988-12-01 00:00:00

abstract：:Systems for automatic assessment of cutaneous touch-pressure, vibratory, and thermal sensation have been developed. These systems use stimuli which are quantified and reproducible, a two-alternative forced-choice technique, and programmed steps to test, score, and report. If normal responses from series of healthy per...

journal_title：Annals of neurology

authors： Dyck PJ,Zimmerman IR,O'Brien PC,Ness A,Caskey PE,Karnes J,Bushek W

更新日期：1978-12-01 00:00:00

abstract：:Four infants had bilateral hippocampal sclerosis by magnetic resonance scans, including oblique coronal fast spin echo images of the temporal lobes; [18F]fluorodeoxyglucose-positron emission tomographic scans, done in 2 infants, showed isolated bilateral anterior temporal lobe hypometabolism. All had epilepsy with epi...

journal_title：Annals of neurology

authors： DeLong GR,Heinz ER

更新日期：1997-07-01 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：: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：: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

abstract：:Two women suffered from a similar, slowly progressive illness characterized by upper and lower motor neuron involvement, sensory disturbances, and neurogenic bladder. Radiographic examinations showed cerebral atrophy and, in one, changes on computerized tomography suggesting leukodystrophy. Sural nerve biopsies reveal...

journal_title：Annals of neurology

authors： Vos AJ,Joosten EM,Gabreëls-Festen AA

更新日期：1983-04-01 00:00:00

abstract：:Seizures in temporal lobe epilepsy can be classified as hypersynchronous and low-voltage fast according to their onset patterns. Experimental evidence suggests that low-voltage fast-onset seizures mainly result from the synchronous activity of γ-aminobutyric acid-releasing cells. In this study, we tested this hypothes...

journal_title：Annals of neurology

authors： Shiri Z,Manseau F,Lévesque M,Williams S,Avoli M

更新日期：2015-03-01 00:00:00

abstract：:Free and bound levels of anti-myelin basic protein (anti-MBP) antibodies were measured by radioimmunoassay in the cerebrospinal fluid of 20 patients with acute idiopathic optic neuritis, 133 patients with multiple sclerosis (MS) divided into three clinical subgroups, and 76 normal control subjects. Patients with idiop...

journal_title：Annals of neurology

authors： Warren KG,Catz I,Bauer C

更新日期：1988-03-01 00:00:00

abstract：OBJECTIVE:Huntington disease (HD) is an inherited neurodegenerative disease caused by the mutant huntingtin gene (mHTT), which harbors expanded CAG repeats. We previously reported that the brain vessel density is higher in mice and patients with HD than in controls. The present study determines whether vascular functio...

journal_title：Annals of neurology

authors： Hsiao HY,Chen YC,Huang CH,Chen CC,Hsu YH,Chen HM,Chiu FL,Kuo HC,Chang C,Chern Y

更新日期：2015-08-01 00:00:00

abstract：:Huntington's disease is an inherited disorder caused by expansion of a CAG trinucleotide repeat in the IT15 gene, which leads to expansion of a polyglutamine tract within the protein called huntingtin. Despite the characterization of the IT15 gene and the mutation involved in the disease, the normal function of huntin...

journal_title：Annals of neurology

authors： Gourfinkel-An I,Cancel G,Trottier Y,Devys D,Tora L,Lutz Y,Imbert G,Saudou F,Stevanin G,Agid Y,Brice A,Mandel JL,Hirsch EC

更新日期：1997-11-01 00:00:00