Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families.

abstract：:Patients with frontal lobe dementia (FLD) include those who suffer from Pick's disease, corticobasal degeneration, FLD without specific histopathologic features, as well as the infrequent families with frontotemporal dementia and parkinsonism associated with chromosome 17. Currently there have been no systematic effor...

journal_title：Neurology

authors： Litvan I

更新日期：2001-06-01 00:00:00

abstract：:Carbamazepine was compared with phenytoin in a double-blind study. Of 87 patients, data on 70 patients were complete and used for analysis. Thirty-five patients were treated with each drug. The incidence of major side effects, minor side effects, and complete control (85%) was the same in both groups. A mild but signi...

journal_title：Neurology

authors： Ramsay RE,Wilder BJ,Berger JR,Bruni J

更新日期：1983-07-01 00:00:00

abstract：OBJECTIVE:To report the development of CNS vasculitis in a patient with multiple sclerosis (MS) treated with daclizumab. METHODS:This report includes clinical, MRI, immunologic, and pathology data and CSF analysis. RESULTS:After completing a phase II daclizumab monotherapy study with an optimal response as evidenced ...

journal_title：Neurology

authors： Ohayon J,Oh U,Richert N,Martin J,Vortmeyer A,McFarland H,Bielekova B

更新日期：2013-01-29 00:00:00

abstract：OBJECTIVE:To determine whether droxidopa, an oral norepinephrine precursor, improves symptomatic neurogenic orthostatic hypotension (nOH). METHODS:Patients with symptomatic nOH due to Parkinson disease, multiple system atrophy, pure autonomic failure, or nondiabetic autonomic neuropathy underwent open-label droxidopa ...

journal_title：Neurology

authors： Kaufmann H,Freeman R,Biaggioni I,Low P,Pedder S,Hewitt LA,Mauney J,Feirtag M,Mathias CJ,NOH301 Investigators.

更新日期：2014-07-22 00:00:00

abstract：OBJECTIVE:To evaluate the muscle biopsy findings from 240 patients who had isolated muscle pain. METHODS:Histopathology, immunohistochemistry for dystrophin, dystrophin-related proteins, major histocompatibility complex type I, and biochemical analysis of glycolytic and mitochondrial respiratory chain enzymes were per...

journal_title：Neurology

authors： Filosto M,Tonin P,Vattemi G,Bertolasi L,Simonati A,Rizzuto N,Tomelleri G

更新日期：2007-01-16 00:00:00

abstract：:Cholinergic neurons in the nucleus ambiguus (NA) were counted in autopsy tissue obtained from five patients with multiple system atrophy (MSA), four patients with PD, and five controls. The number of neurons in the dorsal NA was not significantly different among the three groups. Neurons in the ventrolateral portion o...

journal_title：Neurology

authors： Benarroch EE,Schmeichel AM,Parisi JE

更新日期：2003-01-14 00:00:00

abstract：BACKGROUND:Patients with arm intention tremor due to multiple sclerosis (MS) often manifest eye movement deficits, illustrating the role of infratentorial brain in both ocular and manual movement control. Our previous study showed that both the amplitude of intention tremor and eye fixational movements were greatly enh...

journal_title：Neurology

authors： Feys P,Helsen W,Nuttin B,Lavrysen A,Ketelaer P,Swinnen S,Liu X

更新日期：2008-01-08 00:00:00

abstract：OBJECTIVE:We sought to identify intracranial EEG patterns characteristic of epileptogenic tubers and to understand the contribution of perituberal cortex. METHODS:Twenty-three intracranial EEG monitoring studies were reviewed from 17 children aged 1.3-7.7 years with tuberous sclerosis complex and intractable multifoca...

journal_title：Neurology

authors： Mohamed AR,Bailey CA,Freeman JL,Maixner W,Jackson GD,Harvey AS

更新日期：2012-12-04 00:00:00

abstract：:Wolfram syndrome is an autosomal recessive disorder beginning in childhood that consists of four cardinal features: optic atrophy, diabetes mellitus, diabetes insipidus, and neurosensory hearing loss. Aside from these features, the clinical picture is highly variable and may include other neurologic abnormalities such...

journal_title：Neurology

authors： Rando TA,Horton JC,Layzer RB

更新日期：1992-06-01 00:00:00

abstract：:When the WHO's Topic Advisory Group for Neurology (TAG) started work on revision of the ICD-10 diagnostic codes in June 2009, the issues were daunting. The existing classification was produced a generation ago and the need to move to the digital age was becoming imperative. Appreciating modern advances in genetics and...

journal_title：Neurology

authors： Shakir R,Bergen D

更新日期：2013-07-09 00:00:00

abstract：OBJECTIVE:To compare the efficacy and safety of oral anticoagulants vs antiplatelets in patients with stroke and atherosclerotic plaques in the aortic arch or cervical or intracranial arteries, collectively described as supracardiac atherosclerosis. METHODS:We searched PubMed and Scopus until August 28, 2019, for rand...

journal_title：Neurology

authors： Sagris D,Georgiopoulos G,Leventis I,Pateras K,Pearce LA,Korompoki E,Makaritsis K,Vemmos K,Milionis H,Ntaios G

更新日期：2020-08-04 00:00:00

abstract：OBJECTIVE:To assess the onset of ocrelizumab efficacy on brain MRI measures of disease activity in the phase II study in relapsing-remitting multiple sclerosis (RRMS), and relapse rate in the pooled phase III studies in relapsing multiple sclerosis (RMS). METHODS:Brain MRI activity was determined in the phase II trial...

journal_title：Neurology

authors： Barkhof F,Kappos L,Wolinsky JS,Li DKB,Bar-Or A,Hartung HP,Belachew S,Han J,Julian L,Sauter A,Napieralski J,Koendgen H,Hauser SL

更新日期：2019-11-05 00:00:00

abstract：:Central nervous system involvement in melioidosis is unusual. We describe a 34-year-old man who developed a Pseudomonas pseudomallei meningitis, manifested as bilateral third-nerve palsies, 13 years after having been in southeast Asia. Diagnosis was established by a fourfold rise in the serum antibody titer for the ba...

journal_title：Neurology

authors： Beck RW,Janssen RS,Smiley ML,Schatz NJ,Savino PJ,Rubin DH

更新日期：1984-01-01 00:00:00

abstract：OBJECTIVE:The study aims to examine α-synuclein in the CSF of patients with severe traumatic brain injury (TBI) and its relationship with clinical characteristics and long-term outcomes. METHODS:This prospective case-control study enrolled patients with severe TBI (Glasgow Coma Score ≤ 8) who underwent ventriculostomy...

journal_title：Neurology

authors： Mondello S,Buki A,Italiano D,Jeromin A

更新日期：2013-04-30 00:00:00

abstract：:The authors examined the neural function of a postmeningitic deaf-blind patient who regained his hearing with a multichannel cochlear implant. Auditory stimuli activated the temporal cortices of both sides in a manner similar to that of controls, reflecting the successful recruitment of the auditory cortex after impla...

journal_title：Neurology

authors： Osaki Y,Takasawa M,Doi K,Nishimura H,Iwaki T,Imaizumi M,Oku N,Hatazawa J,Kubo T

更新日期：2006-09-12 00:00:00

abstract：OBJECTIVE:Quality of neurologic emergency management in an under-resourced country may be improved by standard operating procedures (SOPs). METHODS:Neurologic SOPs were implemented in a large urban (Banjul) and a small rural (Brikama) hospital in the Gambia. As quality indicators of neurologic emergency management, pe...

journal_title：Neurology

authors： Jaiteh LES,Helwig SA,Jagne A,Ragoschke-Schumm A,Sarr C,Walter S,Lesmeister M,Manitz M,Blaß S,Weis S,Schlund V,Bah N,Kauffmann J,Fousse M,Kangankan S,Ramos Cabrera A,Kronfeld K,Ruckes C,Liu Y,Nyan O,Fassbender K

更新日期：2017-07-11 00:00:00

abstract：OBJECTIVE:To evaluate whether subthalamic nucleus (STN) stimulation has an effect on the orthostatic regulation of patients with Parkinson disease (PD), we studied cardiovascular regulation during on and off phases of STN stimulation. METHODS:We examined 14 patients with PD (mean age 58.1 +/- 5.8 years, 4 women, 10 me...

journal_title：Neurology

authors： Stemper B,Beric A,Welsch G,Haendl T,Sterio D,Hilz MJ

更新日期：2006-11-28 00:00:00

abstract：OBJECTIVE:To determine the incidence of first seizures, epilepsy, and seizure mimics in a geographically defined area using the updated 2014 International League Against Epilepsy (ILAE) definition, which allows an epilepsy diagnosis after a single seizure when the risk of further seizures over the next 10 years is ≈60%...

journal_title：Neurology

authors： Maloney EM,Chaila E,O'Reilly ÉJ,Costello DJ

更新日期：2020-08-04 00:00:00

abstract：OBJECTIVE:To compare the accuracy of Alberta Stroke Program Early Computed Tomography Score (ASPECTS) and CT perfusion to detect established infarction in acute anterior circulation stroke. METHODS:We performed an observational study in 59 acute anterior circulation ischemic stroke patients who underwent brain noncont...

journal_title：Neurology

authors： Demeestere J,Garcia-Esperon C,Garcia-Bermejo P,Ombelet F,McElduff P,Bivard A,Parsons M,Levi C

更新日期：2017-06-13 00:00:00

abstract：:Plasma exchange (PE) was shown in a previous double-blind randomized controlled study to confer significant additional benefit at 1 year upon patients with chronic progressive multiple sclerosis (CPMS) treated with immunosuppressive drug therapy (ISDT). Efficacy over an extended term, indications for retreatment, and ...

journal_title：Neurology

authors： Khatri BO,McQuillen MP,Hoffmann RG,Harrington GJ,Schmoll D

更新日期：1991-03-01 00:00:00

abstract：:In patients with cranial dystonia, we compared the effects of central anticholinergic, peripheral anticholinergic, and placebo treatments in a double-blind crossover study. One of the nine patients who completed the study improved markedly with central anticholinergic therapy. The three treatments were indistinguishab...

journal_title：Neurology

authors： Nutt JG,Hammerstad JP,deGarmo P,Carter J

更新日期：1984-02-01 00:00:00

abstract：:About 9% of patients presenting to a Huntington disease (HD) clinic for evaluation of possible HD lacked a family history of the disorder. HD was the final diagnosis in 53 to 83% of these patients. As a group, HD-affected individuals without a family history of HD were older and had fewer CAG repeats than the average ...

journal_title：Neurology

authors： Nance MA,Westphal B,Nugent S

更新日期：1996-12-01 00:00:00

abstract：:Twenty-two patients were analyzed 2 or more years after corpus callosum section (9 partial, 13 total). Forty-one percent had class 1 outcome (elimination of secondarily generalized and complex partial seizures), 32% had class 2 outcome (elimination of secondarily generalized seizures), and 27% had class 3 outcome (no ...

journal_title：Neurology

authors： Spencer SS,Spencer DD,Williamson PD,Sass K,Novelly RA,Mattson RH

更新日期：1988-01-01 00:00:00

abstract：BACKGROUND:Structural abnormalities were detected in bilateral primary sensorimotor areas in writer's cramp. Evidence in other primary dystonia, including blepharospasm and cervical dystonia, suggest that structural abnormalities may be observed in other brain areas such as the cerebellum in writer's cramp. OBJECTIVE:...

journal_title：Neurology

authors： Delmaire C,Vidailhet M,Elbaz A,Bourdain F,Bleton JP,Sangla S,Meunier S,Terrier A,Lehéricy S

更新日期：2007-07-24 00:00:00

abstract：:To study the anti-Schwann cell activity of serum from patients with Guillain-Barré syndrome (GBS), we used a 51Cr-release cytotoxicity assay. Specific release of 51Cr mediated by GBS serum did not differ from that with normals or disease controls. Heating sera from GBS patients or controls at 56 or 50 degrees C for 30...

journal_title：Neurology

authors： Lisak RP,Kuchmy D,Armati-Gulson PJ,Brown MJ,Sumner AJ

更新日期：1984-09-01 00:00:00

abstract：OBJECTIVE:To assess the effect of patient and drug characteristics on medication adherence in people with epilepsy (PWE) in a large cohort representative of the German population. METHODS:Information was obtained from the Disease Analyzer database that collects anonymous demographic and medical data from practice comp...

journal_title：Neurology

authors： Gollwitzer S,Kostev K,Hagge M,Lang J,Graf W,Hamer HM

更新日期：2016-08-02 00:00:00

abstract：:An infant with Pena-Shokeir phenotype was born to a cocaine-using mother. The pathologic findings included polyhydramnios, facial anomalies, arthrogryposis, camptodactyly, pulmonary hypoplasia, and tetralogy of Fallot. The neuropathologic findings were diffuse brainstem and spinal cord neuronal degeneration and focal ...

journal_title：Neurology

authors： Lavi E,Montone KT,Rorke LB,Kliman HJ

更新日期：1991-09-01 00:00:00

abstract：:Treatment of functional symptoms has a long history, and interventions were often used in soldiers returning from battle. On the 75th anniversary of the end of the Second World War, I review the portrayal of neurology in documentary film. Two documentaries were released in 1946 and 1948 (Let There Be Light and Shades ...

journal_title：Neurology

authors： Wijdicks EFM

更新日期：2020-06-09 00:00:00

abstract：:Inhibitory antibody to von Willebrand factor (vWF)-cleaving protease (ADAMTS13) was detected in a patient with intravascular lymphomatosis. The increased serum level of the antibody paralleled an increase in the expression of uncleaved vWF, which might cause microvascular thrombosis and platelet consumption. Malignant...

journal_title：Neurology

authors： Kawahara M,Kanno M,Matsumoto M,Nakamura S,Fujimura Y,Ueno S

更新日期：2004-11-09 00:00:00

abstract：:The objective of our study was to assess the 5-year risk of and prognostic factors for the development of clinically definite multiple sclerosis (CDMS) following optic neuritis. In a prospective cohort study design, 388 patients, who did not have probable or definite MS at study entry enrolled in the Optic Neuritis Tr...

journal_title：Neurology

authors： Optic Neuritis Study Group.

更新日期：1997-11-01 00:00:00