Polysomnographic diagnosis of sleepwalking: effects of sleep deprivation.

abstract：:Two siblings presented with a new phenotype consisting of fatal progressive macrocephaly and hypertrophic cardiomyopathy. Onset of symptoms started in both patients at the end of the first month of life with massive brain swelling causing macrocephaly and evolving to extensive brain destruction. Light microscopy of th...

journal_title：Annals of neurology

authors： Dionisi-Vici C,Ruitenbeek W,Fariello G,Bentlage H,Wanders RJ,Schägger H,Bosman C,Piantadosi C,Sabetta G,Bertini E

更新日期：1997-10-01 00:00:00

abstract：:Homocarnosine, a dipeptide of gamma-aminobutyric acid (GABA) and histidine, is thought to be an inhibitory neuromodulator synthesized in subclasses of GABAergic neurons. Homocarnosine is present in human brain in greater amounts (0.4-1.0 micromol/g) than in other animals. The antiepileptic drug vigabatrin increases hu...

journal_title：Annals of neurology

authors： Petroff OA,Mattson RH,Behar KL,Hyder F,Rothman DL

更新日期：1998-12-01 00:00:00

abstract：OBJECTIVE:To study antibody-independent contributions of B cells to inflammatory disease activity, and the immune consequences of B-cell depletion with rituximab, in patients with multiple sclerosis (MS). METHODS:B-Cell effector-cytokine responses were compared between MS patients and matched controls using a 3-signal...

journal_title：Annals of neurology

authors： Bar-Or A,Fawaz L,Fan B,Darlington PJ,Rieger A,Ghorayeb C,Calabresi PA,Waubant E,Hauser SL,Zhang J,Smith CH

更新日期：2010-04-01 00:00:00

abstract：:An X-linked recessive disease with, in almost all patients, a fatal course in early childhood, occurring in a five-generation family is described. The 12 affected boys had early-onset floppiness, ataxia, liability to infections especially of the upper respiratory tract, deafness, and later, a flaccid tetraplegia and a...

journal_title：Annals of neurology

authors： Arts WF,Loonen MC,Sengers RC,Slooff JL

更新日期：1993-05-01 00:00:00

abstract：:Plasma valproate concentrations were monitored prospectively in 54 previously untreated adult patients with epilepsy. Dose and plasma concentration were highly correlated. Adverse effects were common in association with plasma levels above 100 micrograms/ml. In patients suffering tonic-clonic seizures without focal sy...

journal_title：Annals of neurology

authors： Turnbull DM,Rawlins MD,Weightman D,Chadwick DW

更新日期：1983-07-01 00:00:00

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：:As more small peptidergic components of the central nervous system are isolated, their role in disease states is being investigated. Several of these neuropeptides, especially the opioidlike peptides, adrenocorticotropic hormone, and some hypothalamic releasing factors, have been found to alter neuronal excitability. ...

journal_title：Annals of neurology

authors： Bajorek JG,Lee RJ,Lomax P

更新日期：1984-01-01 00:00:00

abstract：:Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the...

journal_title：Annals of neurology

authors： Boerkoel CF,Takashima H,Nakagawa M,Izumo S,Armstrong D,Butler I,Mancias P,Papasozomenos SC,Stern LZ,Lupski JR

更新日期：2003-03-01 00:00:00

abstract：:Mutations of SURF-1, a gene located on chromosome 9q34, have recently been identified in patients affected by Leigh syndrome (LS), associated with deficiency of cytochrome c oxidase (COX), the terminal component of the mitochondrial respiratory chain. To investigate to what extent SURF-1 is responsible for human disor...

journal_title：Annals of neurology

authors： Tiranti V,Jaksch M,Hofmann S,Galimberti C,Hoertnagel K,Lulli L,Freisinger P,Bindoff L,Gerbitz KD,Comi GP,Uziel G,Zeviani M,Meitinger T

更新日期：1999-08-01 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：:We report the first molecular defect in an NADH-dehydrogenase gene presenting as isolated myopathy. The proband had lifelong exercise intolerance but no weakness. A muscle biopsy showed cytochrome c oxidase (COX)-positive ragged-red fibers (RRFs), and analysis of the mitochondrial enzymes revealed complex I deficiency...

journal_title：Annals of neurology

authors： Andreu AL,Tanji K,Bruno C,Hadjigeorgiou GM,Sue CM,Jay C,Ohnishi T,Shanske S,Bonilla E,DiMauro S

更新日期：1999-06-01 00:00:00

abstract：:Progressive multifocal leukoencephalopathy (PML) complicating the acquired immunodeficiency syndrome (AIDS) is typically inexorably progressive with death usually occurring within 6 months of symptom onset. Occasional patients have been observed to survive longer than 1 year, often with remission of clinical features....

journal_title：Annals of neurology

authors： Berger JR,Levy RM,Flomenhoft D,Dobbs M

更新日期：1998-09-01 00:00:00

abstract：:Previous work has shown that lesions in the lateral cerebellum involving the dentate nucleus impair both reaching and pinching movements in humans and monkeys. This study addressed the question of whether disruption of the cerebellar-thalamo-cortical pathway at the level of the thalamus would produce behavioral defici...

journal_title：Annals of neurology

authors： Bastian AJ,Thach WT

更新日期：1995-12-01 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：:Understanding of the organization and function of a newly identified neuronal messenger molecule, nitric oxide, has progressed rapidly. Nitric oxide synthase has been purified and molecularly cloned from brain. Its localization is exclusively neuronal and endothelial. The catalytic activity of nitric oxide synthase ac...

journal_title：Annals of neurology

authors： Dawson TM,Dawson VL,Snyder SH

更新日期：1992-09-01 00:00:00

abstract：:In a prospective study, we repeatedly recorded fast goal-directed wrist movements of 8 patients who had experienced an acute cerebellar hypermetria due to a stroke and who had subsequently recovered clinically. Movements and the associated agonist and antagonist electromyographic (EMG) activities were recorded before ...

journal_title：Annals of neurology

authors： Manto M,Jacquy J,Hildebrand J,Godaux E

更新日期：1995-09-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a motor neuron disease caused by dysfunction of the survival motor neuron (SMN) gene. Human SMN gene is present in duplicated copies: SMN1 and SMN2. More than 95% of patients with SMA lack a functional SMN1 but retain at least one copy of SMN2. Unlike SMN1, SMN2 is primarily transcribe...

journal_title：Annals of neurology

authors： Grzeschik SM,Ganta M,Prior TW,Heavlin WD,Wang CH

更新日期：2005-08-01 00:00:00

abstract：:Human immunodeficiency viruses from the brain can be distinguished from peripheral blood isolates by their ability to infect established human cell lines and their sensitivity to serum neutralization. Isolates from the brain and lymph nodes obtained from the same person displayed similar host range tropism and suscept...

journal_title：Annals of neurology

authors： Cheng-Mayer C,Levy JA

更新日期：1988-01-01 00:00:00

abstract：:The prevalence of migraine is much greater in female than male individuals. Cortical spreading depression (CSD) is thought to be a fundamental mechanism of migraine, and CSD in rodents is used as a model for migraine. We used optical intrinsic signal imaging and electrophysiological techniques to investigate CSD in C5...

journal_title：Annals of neurology

authors： Brennan KC,Romero Reyes M,López Valdés HE,Arnold AP,Charles AC

更新日期：2007-06-01 00:00:00

abstract：:A family with Gerstmann-Sträussler-Scheinker disease had coincidental clinical onset in three members of two generations, a phenomenon suggesting a common source of a transmissible agent. A regular dietary supplement in this family was home-bred rabbit. The clinical picture, although generally similar to that in previ...

journal_title：Annals of neurology

authors： Hudson AJ,Farrell MA,Kalnins R,Kaufmann JC

更新日期：1983-12-01 00:00:00

abstract：:In patients with the frontal variant of frontotemporal lobar degeneration (fv-FTLD), behavioral abnormalities may vary from apathy with motor slowness (apathetic form) to disinhibition with agitation (disinhibited form). These clinical presentations may be related to specific regional cerebral dysfunction and to defic...

journal_title：Annals of neurology

authors： Franceschi M,Anchisi D,Pelati O,Zuffi M,Matarrese M,Moresco RM,Fazio F,Perani D

更新日期：2005-02-01 00:00:00

abstract：OBJECTIVE:Recanalization of arterial obstruction is associated with improved clinical outcomes. There are no controlled data demonstrating whether arterial obstruction status predicts the treatment effect of intravenous (IV) tissue plasminogen activator (tPA). We aimed to determine if the presence of arterial obstructi...

journal_title：Annals of neurology

authors： De Silva DA,Churilov L,Olivot JM,Christensen S,Lansberg MG,Mlynash M,Campbell BC,Desmond P,Straka M,Bammer R,Albers GW,Davis SM,Donnan GA,EPITHET-DEFUSE Investigators.

更新日期：2011-10-01 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：:Ross River virus (strain T48) infection in mice causes an encephalomyelitis characterized by focal, primary demyelination in the cerebellum, brain stem, and spinal cord. Maximal serum and brain content of virus occurs on days 2 and 4, respectively. Virus is not detectable in serum after day 3 or in brain after day 9. ...

journal_title：Annals of neurology

authors： Seay AR,Wolinsky JS

更新日期：1982-10-01 00:00:00

abstract：:Primary and secondary conditions leading to thiamine deficiency have overlapping features in children, presenting with acute episodes of encephalopathy, bilateral symmetric brain lesions, and high excretion of organic acids that are specific of thiamine-dependent mitochondrial enzymes, mainly lactate, alpha-ketoglutar...

journal_title：Annals of neurology

authors： Ortigoza-Escobar JD,Alfadhel M,Molero-Luis M,Darin N,Spiegel R,de Coo IF,Gerards M,Taylor RW,Artuch R,Nashabat M,Rodríguez-Pombo P,Tabarki B,Pérez-Dueñas B,Thiamine Deficiency Study Group.

更新日期：2017-09-01 00:00:00

abstract：:Patterns of cerebral metabolic intercorrelations were compared in the resting state in 15 healthy young men (ages 20 to 32 years) and 15 healthy elderly men (ages 64 to 83 years). Controlling for whole-brain glucose metabolism, partial correlation coefficients were determined between pairs of regional cerebral metabol...

journal_title：Annals of neurology

authors： Horwitz B,Duara R,Rapoport SI

更新日期：1986-01-01 00:00:00

abstract：OBJECTIVE:The Epi4K Consortium recently identified 4 de novo mutations in the γ-aminobutyric acid type A (GABAA ) receptor β3 subunit gene GABRB3 and 1 in the β1 subunit gene GABRB1 in children with one of the epileptic encephalopathies (EEs) Lennox-Gastaut syndrome (LGS) and infantile spasms (IS). Because the etiology...

journal_title：Annals of neurology

authors： Janve VS,Hernandez CC,Verdier KM,Hu N,Macdonald RL

更新日期：2016-05-01 00:00:00

abstract：:The ability to distinguish adaptive cortical reorganization may help to target future therapeutic strategies after neurological insult. We investigated cortical plasticity by prospectively applying visual functional magnetic resonance imaging (fMRI) and optic nerve MRI to 20 patients with acute optic neuritis at basel...

journal_title：Annals of neurology

authors： Toosy AT,Hickman SJ,Miszkiel KA,Jones SJ,Plant GT,Altmann DR,Barker GJ,Miller DH,Thompson AJ

更新日期：2005-05-01 00:00:00

abstract：:To define the molecular mechanisms underlying amphetamine (AMPH) neurotoxicity, primary cultures of dopaminergic neurons were examined for drug-induced changes in dopamine (DA) distribution, oxidative stress, protein damage, and cell death. As in earlier studies, AMPH rapidly redistributed vesicular DA to the cytoplas...

journal_title：Annals of neurology

authors： Lotharius J,O'Malley KL

更新日期：2001-01-01 00:00:00

abstract：:Interferon beta-1b reduces clinical exacerbations and disease activity in multiple sclerosis as shown by magnetic resonance imaging, but the mechanism of action is unknown. We investigated the correlation between the levels of soluble adhesion molecules and a reduction in contrast-enhancing lesions on gadopentetate di...

journal_title：Annals of neurology

authors： Calabresi PA,Tranquill LR,Dambrosia JM,Stone LA,Maloni H,Bash CN,Frank JA,McFarland HF

更新日期：1997-05-01 00:00:00