Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

abstract：:The long-term evolution of Hu antibody (Hu-Ab) titers in patients with paraneoplastic neurologic syndromes (PNSs) is not known. Described is the evolution of Hu-Ab titers in 35 patients with PNS with a median follow-up of 32 months (range 6 to 108 months). No correlation was observed between Hu-Ab titers and neurologi...

journal_title：Neurology

authors： Lladó A,Mannucci P,Carpentier AF,Paris S,Blanco Y,Saiz A,Delattre JY,Graus F

更新日期：2004-11-23 00:00:00

abstract：OBJECTIVE:To determine the diagnostic value of high-resolution ultrasound (HRUS) for detection of chronic inflammatory demyelinating polyneuropathy (CIDP), Lewis-Sumner syndrome (LSS), and multifocal motor neuropathy (MMN). METHODS:Between January 2013 and January 2015, we enrolled 75 consecutive treatment-naive patie...

journal_title：Neurology

authors： Goedee HS,van der Pol WL,van Asseldonk JH,Franssen H,Notermans NC,Vrancken AJ,van Es MA,Nikolakopoulos S,Visser LH,van den Berg LH

更新日期：2017-01-10 00:00:00

abstract：:Eighty-one percent (47/58) of private-sector neurologists in Colorado responded to a mail survey of practice patterns. We evaluated patient load, degree of principal versus consultative care, and use of neurodiagnostic tests. Broad areas of neurologic education that were perceived to have been lacking during residency...

journal_title：Neurology

authors： Franklin GM,Ringel SP,Nelson LM,DeLapp C

更新日期：1987-02-01 00:00:00

abstract：:Charcot-Marie-Tooth disease type 1 (CMT1) is associated with atrophy and degeneration of peripheral nerve axons in addition to prominent changes in the structure of Schwann cells. We have investigated the composition of the axonal cytoskeleton in sural nerve biopsies from patients with CMT1. Compared to controls, CMT1...

journal_title：Neurology

authors： Watson DF,Nachtman FN,Kuncl RW,Griffin JW

更新日期：1994-12-01 00:00:00

abstract：:Cognitive impairment is a frequent manifestation of advanced human immunodeficiency virus (HIV) infection. The response to antiretroviral medication is often partial and poorly sustained. Recent studies suggest that free radical production within the CNS and neuronal apoptosis may play important roles in the pathogene...

journal_title：Neurology

authors：

更新日期：1998-03-01 00:00:00

abstract：BACKGROUND:The head impulse test (HIT) is a useful bedside test to identify peripheral vestibular deficits. However, such a deficit of the vestibulo-ocular reflex (VOR) may not be diagnosed because corrective saccades cannot always be detected by simple observation. The scleral search coil technique is the gold standar...

journal_title：Neurology

authors： MacDougall HG,Weber KP,McGarvie LA,Halmagyi GM,Curthoys IS

更新日期：2009-10-06 00:00:00

abstract：OBJECTIVE:To determine whether pergolide, a mixed D1/D2/D3 dopamine agonist, is efficacious and safe in the treatment of children with chronic tic disorders and Tourette syndrome. BACKGROUND:Neuroleptics, which block dopamine transmission, are currently used to treat children with severe tics, but major side effects a...

journal_title：Neurology

authors： Gilbert DL,Dure L,Sethuraman G,Raab D,Lane J,Sallee FR

更新日期：2003-02-25 00:00:00

abstract：OBJECTIVES:Laminin alpha2 deficiency presents at birth with muscle weakness, hypotonia, and usually asymptomatic white matter signal on MRI. Few patients with laminin alpha2 deficiency have been described with seizures and structural brain abnormalities. The reason for the variation in the severity of the clinical phen...

journal_title：Neurology

authors： Pegoraro E,Fanin M,Trevisan CP,Angelini C,Hoffman EP

更新日期：2000-10-24 00:00:00

abstract：OBJECTIVE:To describe a kindred with a dominantly inherited neurologic disorder manifested either as uncomplicated spastic paraplegia or ataxia, spastic paraplegia, and mental retardation. METHODS:Neurologic examinations and molecular genetic analysis (exclusion of known SCA and HSP genes and loci; and trinucleotide r...

journal_title：Neurology

authors： Hedera P,Rainier S,Zhao XP,Schalling M,Lindblad K,Yuan QP,Ikeuchi T,Trobe J,Wald JJ,Eldevik OP,Kluin K,Fink JK

更新日期：2002-02-12 00:00:00

abstract：OBJECTIVE:To delineate the features of regional cerebral metabolic rate of glucose (CMRglc) in dementia with Lewy bodies (DLB). METHODS:We compared absolute CMRglc in 12 patients with a clinical diagnosis of DLB, 12 patients with a clinical diagnosis of Alzheimer's disease (AD), and 12 normal volunteers (NC), using 18...

journal_title：Neurology

authors： Ishii K,Imamura T,Sasaki M,Yamaji S,Sakamoto S,Kitagaki H,Hashimoto M,Hirono N,Shimomura T,Mori E

更新日期：1998-07-01 00:00:00

abstract：BACKGROUND:Sleep-disordered breathing (SDB) and respiratory failure (RF) are complications of acid maltase deficiency (AMD), a rare hereditary myopathy. OBJECTIVE:To define the relationship between lung and respiratory muscle function, to establish incidence and patterns of SDB, and to determine daytime predictors of ...

journal_title：Neurology

authors： Mellies U,Ragette R,Schwake C,Baethmann M,Voit T,Teschler H

更新日期：2001-10-09 00:00:00

abstract：OBJECTIVE:The diagnosis of psychogenic nonepileptic seizures (PNES) can be challenging. In the absence of a gold standard to verify the reliability of the diagnosis by EEG-video, we sought to assess the interrater reliability of the diagnosis using EEG-video recordings. METHODS:Patient samples consisted of 22 unselect...

journal_title：Neurology

authors： Benbadis SR,LaFrance WC Jr,Papandonatos GD,Korabathina K,Lin K,Kraemer HC,NES Treatment Workshop.

更新日期：2009-09-15 00:00:00

abstract：OBJECTIVE:Carotid endarterectomy (CEA) is frequently performed based solely on noninvasive vascular imaging (NVI) results (duplex ultrasound, DU; magnetic resonance angiography, MRA; CT angiography, CTA). The authors determined how often intra-arterial contrast angiography (ANGIO) alters a CEA decision as compared to N...

journal_title：Neurology

authors： Johnston DC,Goldstein LB

更新日期：2001-04-24 00:00:00

abstract：OBJECTIVE:To assess the contribution of microstructural normal-appearing white matter (NAWM) damage to social cognition impairment, specifically in the theory of mind (ToM), in multiple sclerosis (MS). METHODS:We enrolled consecutively 60 patients with MS and 60 healthy controls (HC) matched on age, sex, and education...

journal_title：Neurology

authors： Batista S,Alves C,d'Almeida OC,Afonso A,Félix-Morais R,Pereira J,Macário C,Sousa L,Castelo-Branco M,Santana I,Cunha L

更新日期：2017-07-04 00:00:00

abstract：OBJECTIVES:To identify gene mutations in patients with dystroglycanopathy and prove pathogenicity of those mutations using an in vitro cell assay. METHODS:We performed whole-exome sequencing on 20 patients, who were previously diagnosed with dystroglycanopathy by immunohistochemistry and/or Western blot analysis. We a...

journal_title：Neurology

authors： Dong M,Noguchi S,Endo Y,Hayashi YK,Yoshida S,Nonaka I,Nishino I

更新日期：2015-01-20 00:00:00

abstract：:In Icelandic pedigrees a cystatin C mutation, glutamine 68 (L68Q), causes autosomal dominant cerebral amyloid angiopathy-related hemorrhage (CAAH). We examined 33 patients with sporadic CAAH for this mutation. None carried L68Q and, including this report, only one of 52 published cases of sporadic CAAH has had the cys...

journal_title：Neurology

authors： McCarron MO,Nicoll JA,Stewart J,Ironside JW,Mann DM,Love S,Graham DI,Grubb A

更新日期：2000-01-11 00:00:00

abstract：:In the present study we compared the efficacy and safety of the new dopamine agonist cabergoline (CBG) with bromocriptine (BCR) in Parkinson's disease (PD). CBG has a very long half-life and can be administered as a single daily dose. Forty-four PD patients with uncontrolled motor fluctuations participated in the stud...

journal_title：Neurology

authors： Inzelberg R,Nisipeanu P,Rabey JM,Orlov E,Catz T,Kippervasser S,Schechtman E,Korczyn AD

更新日期：1996-09-01 00:00:00

abstract：BACKGROUND:Transcranial contrast Doppler studies have shown an increased prevalence of right-to-left shunts in patients with migraine with aura compared with controls. The anatomy and size of these right-to-left shunts have never been directly assessed. METHODS:In a cross-sectional case-control study, the authors perf...

journal_title：Neurology

authors： Schwerzmann M,Nedeltchev K,Lagger F,Mattle HP,Windecker S,Meier B,Seiler C

更新日期：2005-11-08 00:00:00

abstract：:A physically and intellectually normally developed boy had a resection of a lumbar myelomeningocele shortly after birth and a shunt was inserted for hydrocephalus. He died at age 12 years after a traffic accident. Autopsy disclosed a hyperplasia of the cerebellar vermis. An abnormal median-sagittal triangular fiber tr...

journal_title：Neurology

authors： Friede RL,Briner J

更新日期：1978-12-01 00:00:00

abstract：BACKGROUND:Distal sensory polyneuropathy (DSP) is the most common neurologic complication of human immunodeficiency virus (HIV) infection. Risk factors for DSP have not been adequately defined in the era of highly active antiretroviral therapy. METHODS:The authors evaluated 101 subjects with advanced HIV infection ove...

journal_title：Neurology

authors： Simpson DM,Kitch D,Evans SR,McArthur JC,Asmuth DM,Cohen B,Goodkin K,Gerschenson M,So Y,Marra CM,Diaz-Arrastia R,Shriver S,Millar L,Clifford DB,ACTG A5117 Study Group.

更新日期：2006-06-13 00:00:00

abstract：OBJECTIVE:To assess the available evidence for the diagnostic accuracy of CSF testing for protein 14-3-3 in patients with suspected sporadic Creutzfeldt-Jakob disease (sCJD). METHODS:The authors performed a systematic review of the available literature from 1995 to January 1, 2011, to identify articles involving patie...

journal_title：Neurology

authors： Muayqil T,Gronseth G,Camicioli R

更新日期：2012-10-02 00:00:00

abstract：:Thirteen consecutive patients with thalamic deep brain stimulation (DBS) were examined serially for 3 to 5 years. Initially, all demonstrated at least 50% improvement in contralateral tremor. At last follow-up, three of eight patients with Parkinson disease no longer used DBS because tremor had markedly improved, and ...

journal_title：Neurology

authors： Kumar R,Lozano AM,Sime E,Lang AE

更新日期：2003-12-09 00:00:00

abstract：OBJECTIVE:To compare in the Vertebral Artery Ischaemia Stenting Trial (VIST) the risks and benefits of vertebral angioplasty and stenting with best medical treatment (BMT) alone for symptomatic vertebral artery stenosis. METHODS:VIST was a prospective, randomized, open-blinded endpoint clinical trial performed in 14 h...

journal_title：Neurology

authors： Markus HS,Larsson SC,Kuker W,Schulz UG,Ford I,Rothwell PM,Clifton A,VIST Investigators.

更新日期：2017-09-19 00:00:00

abstract：OBJECTIVE:To assess the medial plantar nerve action potential (NAP) and skin biopsy in the evaluation of suspected distal sensory neuropathies (SN) with normal routine nerve conduction studies (NCS). METHODS:A total of 110 consecutive patients with suspected distal SN and normal routine NCS underwent medial plantar NA...

journal_title：Neurology

authors： Herrmann DN,Ferguson ML,Pannoni V,Barbano RL,Stanton M,Logigian EL

更新日期：2004-09-14 00:00:00

abstract：:Normal human quadriceps muscle was transplanted into nude mice subcutaneously for periods of 1, 2, 3, 4, 6, and 8 weeks. At 1 week, there was myoblast and myotube formation with thin and thick filaments. After 2 weeks, there was myotube formation with partially cross-striated myofilaments, and formation of dyads or tr...

journal_title：Neurology

authors： Wakayama Y,Schotland DL,Bonilla E

更新日期：1980-07-01 00:00:00

abstract：:Cisternography and ventriculography were performed in five normal anesthetized dogs to study the dynamics of tracer dispersal. Indium 111-diethylenetriaminepentaacetic acid was injected into lateral ventricles, cisterna magna, thoracic subarachnoid space, and lumbar sac. The patterns of dispersal from each injection s...

journal_title：Neurology

authors： Schossberger PF,Touya JJ

更新日期：1976-03-01 00:00:00

abstract：OBJECTIVE:To evaluate changes from baseline in patient-reported outcomes for measures of functioning and disability among patients with migraine treated with galcanezumab or placebo. METHODS:Patients with episodic migraine (4-14 monthly migraine headache days) were treated with either galcanezumab (Evaluation of LY295...

journal_title：Neurology

authors： Ford JH,Ayer DW,Zhang Q,Carter JN,Leroux E,Skljarevski V,Aurora SK,Tockhorn-Heidenreich A,Lipton RB

更新日期：2019-07-30 00:00:00

abstract：:A 41-year-old man presented with bilateral posterior cerebral artery infarcts. He had visual object agnosia and prosopagnosia with preservation of reading abilities. There was also defective visual memory, topographic orientation, and color perception, as well as simultanagnosia. From the clinical facts and CT finding...

journal_title：Neurology

authors： Gomori AJ,Hawryluk GA

更新日期：1984-07-01 00:00:00

abstract：OBJECTIVES:To examine the illusional sensation of movement evoked by vibration of an immobilized arm. METHODS:Patients with idiopathic focal dystonia were compared with those with idiopathic PD and with patients with dystonia secondary to PD. A 100-Hz transcutaneous vibratory stimulus was applied to the biceps brachii...

journal_title：Neurology

authors： Rome S,Grünewald RA

更新日期：1999-11-10 00:00:00

abstract：OBJECTIVE:To explore sensitivity of optical coherence tomography (OCT) in detecting prior unilateral optic neuritis. METHODS:This is a retrospective, observational clinical study of all patients who presented from January 1, 2014, to January 6, 2017, with unilateral optic neuritis and OCT available at least 3 months a...

journal_title：Neurology

authors： Xu SC,Kardon RH,Leavitt JA,Flanagan EP,Pittock SJ,Chen JJ

更新日期：2019-02-05 00:00:00