Epileptic encephalopathy de novo GABRB mutations impair γ-aminobutyric acid type A receptor function.

abstract：:In a patient with acquired immunodeficiency disease syndrome (AIDS) and muscle weakness, a muscle biopsy specimen disclosed degeneration of muscle fibers, regeneration, and focal endomysial mononuclear inflammation. A conspicuous feature was the presence of perivascular macrophages within the endomysium that showed po...

journal_title：Annals of neurology

authors： Chad DA,Smith TW,Blumenfeld A,Fairchild PG,DeGirolami U

更新日期：1990-10-01 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：OBJECTIVE:Although electrophysiologic dysfunction of the subthalamic nucleus is putative, deep brain stimulation of this structure has recently been reported to improve obsessions and compulsions. In Parkinson disease, sensorimotor subthalamic neurons display high-frequency burst firing, which is considered as an elect...

journal_title：Annals of neurology

authors： Piallat B,Polosan M,Fraix V,Goetz L,David O,Fenoy A,Torres N,Quesada JL,Seigneuret E,Pollak P,Krack P,Bougerol T,Benabid AL,Chabardès S

更新日期：2011-05-01 00:00:00

abstract：:Recently, transcranial Doppler sonography has been introduced into clinical practice for noninvasive investigation of the large intracranial arteries. To determine its accuracy for detection of stenosing or occluding lesions, 133 consecutive patients were studied by both transcranial Doppler sonography and selective c...

journal_title：Annals of neurology

authors： Ley-Pozo J,Ringelstein EB

更新日期：1990-11-01 00:00:00

abstract：OBJECTIVE:Gray matter (GM) damage and meningeal inflammation have been associated with early disease onset and a more aggressive disease course in multiple sclerosis (MS), but can these changes be identified in the patient early in the disease course? METHODS:To identify possible biomarkers linking meningeal inflammat...

journal_title：Annals of neurology

authors： Magliozzi R,Howell OW,Nicholas R,Cruciani C,Castellaro M,Romualdi C,Rossi S,Pitteri M,Benedetti MD,Gajofatto A,Pizzini FB,Montemezzi S,Rasia S,Capra R,Bertoldo A,Facchiano F,Monaco S,Reynolds R,Calabrese M

更新日期：2018-04-01 00:00:00

abstract：:The current functional model of the basal ganglia suggests that dyskinesia results from abnormally low activity at the output of the system. This view appears incomplete. The recent literature suggests other factors. Thus, dyskinesia may result from disturbance of surround inhibition: a physiologic mechanism to select...

journal_title：Annals of neurology

authors： Filion M

更新日期：2000-04-01 00:00:00

abstract：OBJECTIVE:Whether febrile status epilepticus (FSE) produces hippocampal sclerosis (HS) and temporal lobe epilepsy (TLE) has long been debated. Our objective is to determine whether FSE produces acute hippocampal injury that evolves to HS. METHODS:FEBSTAT and 2 affiliated studies prospectively recruited 226 children ag...

journal_title：Annals of neurology

authors： Lewis DV,Shinnar S,Hesdorffer DC,Bagiella E,Bello JA,Chan S,Xu Y,MacFall J,Gomes WA,Moshé SL,Mathern GW,Pellock JM,Nordli DR Jr,Frank LM,Provenzale J,Shinnar RC,Epstein LG,Masur D,Litherland C,Sun S,FEBSTAT Study

更新日期：2014-02-01 00:00:00

abstract：:The mechanisms responsible for early prenecrotic ischemic brain edema were investigated in rats by comparing brain metabolism, tissue water (HOH) content, and sodium and potassium ion concentration in brain during ischemia induced by decapitation, by the Pulsinelli-Brierley technique, and by carotid embolization. Alth...

journal_title：Annals of neurology

authors： Kogure K,Busto R,Scheinberg P

更新日期：1981-03-01 00:00:00

abstract：:We studied the impact of cerebral amyloid angiopathy on tissue plasminogen activator-induced cerebral hemorrhages in APP23 transgenic mice. Results show that the intravenous administration of tissue plasminogen activator in APP23 mice leads to an increase in cerebral amyloid angiopathy-associated microhemorrhages and ...

journal_title：Annals of neurology

authors： Winkler DT,Biedermann L,Tolnay M,Allegrini PR,Staufenbiel M,Wiessner C,Jucker M

更新日期：2002-06-01 00:00:00

abstract：:Authorship of scientific publications holds great importance for basic and clinical researchers. Academic appointments and promotions, grant funding, and salary support depend to some extent on published recognition through authorship. Peer-recognition and personal satisfaction are additional incentives for authorship...

journal_title：Annals of neurology

authors： Kaufmann P,Annis C,Griggs RC,Muscle Study Group Executive Committee.

更新日期：2010-12-01 00:00:00

abstract：:By most measures, academic neurology is thriving as never before, yet convening forces are changing the face of academic neurology. This report focuses on changes that academic neurology and the American Neurological Association could undertake to seize new opportunities and resist damaging potential changes. These pr...

journal_title：Annals of neurology

authors： Griffin JW,Griggs RC,Barchi R,Schneck SA,Moses H 3rd

更新日期：1996-06-01 00:00:00

abstract：:Solitary neoplastic proliferation of plasma cells (plasmacytoma) rarely occurs in the central nervous system. The longest follow-Up in nine previously reported patients was 5 years. We have followed two patients with solitary intracranial plasmacytoma for 8 and 13 years, respectively. At the time of biopsy diagnosis, ...

journal_title：Annals of neurology

authors： Krumholz A,Weiss HD,Jiji VH,Bakal D,Kirsh MB

更新日期：1982-05-01 00:00:00

abstract：:To determine the role of recombinant human erythropoietin as a possible treatment option in Friedreich's ataxia, we performed an open-label clinical pilot study. Primary outcome measure was the change of frataxin levels at week 8 versus baseline. Twelve Friedreich's ataxia patients received 5,000 units recombinant hum...

journal_title：Annals of neurology

authors： Boesch S,Sturm B,Hering S,Goldenberg H,Poewe W,Scheiber-Mojdehkar B

更新日期：2007-11-01 00:00:00

abstract：OBJECTIVE:To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS:We analyzed patients from five separate kindreds and characterized their periph...

journal_title：Annals of neurology

authors： Shy ME,Scavina MT,Clark A,Krajewski KM,Li J,Kamholz J,Kolodny E,Szigeti K,Fischer RA,Saifi GM,Scherer SS,Lupski JR

更新日期：2006-02-01 00:00:00

abstract：:Patients with atrial fibrillation are at risk for cerebral embolism; however, the roles of chronic anticoagulation or antiplatelet therapy for stroke prevention in patients with nonvalvular atrial fibrillation have been controversial. Recently, the results of three large prospective randomized trials that examined the...

journal_title：Annals of neurology

authors： Albers GW,Sherman DG,Gress DR,Paulseth JE,Petersen P

更新日期：1991-10-01 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：:Endoneurial fluid pressure (EFP) was recorded by an active, servo-null pressure system after a glass micropipette was inserted into rat sciatic nerve undergoing wallerian degeneration. The lesions were produced by crushing the left sciatic nerve of the anesthetized animal at its point of entry into the thigh. Eighty-f...

journal_title：Annals of neurology

authors： Powell HC,Myers RR,Costello ML,Lampert PW

更新日期：1979-06-01 00:00:00

abstract：:To investigate the potential role of drug therapy in preventing or exacerbating seizure-related brain injury in the prepubescent brain, we administered kainic acid to rats at postnatal day 35. Therapy with daily phenobarbital was started directly before or 1 day after kainic acid was administered, and was continued th...

journal_title：Annals of neurology

authors： Mikati MA,Holmes GL,Chronopoulos A,Hyde P,Thurber S,Gatt A,Liu Z,Werner S,Stafstrom CE

更新日期：1994-09-01 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：:Twenty-six patients with late-stage Parkinson disease were given 0.4 to 15 mg of pergolide mesylate daily in addition to, or as replacement for, levodopa or bromocriptine therapy. Despite treatment with individually determined optimum doses of levodopa, bromocriptine, and anticholinergics, they had shown response fail...

journal_title：Annals of neurology

authors： Lang AE,Quinn N,Brincat S,Marsden CD,Parkes JD

更新日期：1982-09-01 00:00:00

abstract：:Polymorphonuclear neutral protease activity (PMN-NPA) was examined in 87 patients with definite multiple sclerosis (MS) (48 active, 39 inactive), 49 patients with other neurological diseases (OND), 24 patients with immune-mediated non-neurological diseases (INND), and 32 normal subjects. PMN-NPA was found to be signif...

journal_title：Annals of neurology

authors： Guarnieri B,Lolli F,Amaducci L

更新日期：1985-11-01 00:00:00

abstract：:Angelman syndrome (AS) results from lack of genetic contribution from maternal chromosome 15q11-13. This region encompasses three GABAA receptor subunit genes (beta3, alpha5, and gamma3). The characteristic phenotype of AS is severe mental retardation, ataxic gait, tremulousness, and jerky movements. We studied the mo...

journal_title：Annals of neurology

authors： Guerrini R,De Lorey TM,Bonanni P,Moncla A,Dravet C,Suisse G,Livet MO,Bureau M,Malzac P,Genton P,Thomas P,Sartucci F,Simi P,Serratosa JM

更新日期：1996-07-01 00:00:00

abstract：:Ocular flutter is a rare horizontal eye movement disorder characterized by rapid saccadic oscillations. It has been hypothesized that it is caused by loss of "pause" neuronal inhibition of "burst" neuron function in the paramedian pontine reticular formation (PPRF); however, there have been no imaging studies confirmi...

journal_title：Annals of neurology

authors： Schon F,Hodgson TL,Mort D,Kennard C

更新日期：2001-09-01 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:Alterations of the gut microbiome in Parkinson disease (PD) have been repeatedly demonstrated. However, little is known about whether such alterations precede disease onset and how they relate to risk and prodromal markers of PD. We investigated associations of these features with gut microbiome composition. ...

journal_title：Annals of neurology

authors： Heinzel S,Aho VTE,Suenkel U,von Thaler AK,Schulte C,Deuschle C,Paulin L,Hantunen S,Brockmann K,Eschweiler GW,Maetzler W,Berg D,Auvinen P,Scheperjans F

更新日期：2020-08-01 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：:The fate of neurofilament (NF) proteins was examined in sections of nerves from rats that survived for 3 to 90 days following nerve transection, using anti-NF monoclonal antibodies and immunohistochemical techniques. The same methods were also applied to twenty-three human nerve biopsy specimens. Granular debris with ...

journal_title：Annals of neurology

authors： Trojanowski JQ,Lee VM,Schlaepfer WW

更新日期：1984-09-01 00:00:00

abstract：:A 65-year-old woman with subacute global deterioration of neurological function had bilateral occlusion of the internal carotid arteries demonstrated by angiography. Postmortem examination showed isolated giant cell arteritis involving the carotid siphon bilaterally. ...

journal_title：Annals of neurology

authors： Howard GF 3rd,Ho SU,Kim KS,Wallach J

更新日期：1984-02-01 00:00:00

abstract：:Congenital amusia is a lifelong disability that prevents afflicted individuals from enjoying music as ordinary people do. The deficit is limited to music and cannot be explained by prior brain lesion, hearing loss, or any cognitive or socio-affective disturbance. Recent behavioral results suggest that this disorder is...

journal_title：Annals of neurology

authors： Peretz I,Brattico E,Tervaniemi M

更新日期：2005-09-01 00:00:00

abstract：:We recently reported that systemic administration of a proteasome inhibitor induced a progressive levodopa-responsive, bradykinetic syndrome in rats with imaging, pathological, and biochemical features that strikingly resemble what is found in PD. This model has the potential to be a useful tool for studying the mecha...

journal_title：Annals of neurology

authors： McNaught KS,Olanow CW

更新日期：2006-08-01 00:00:00