Hereditary neuropathy with upper motor-neuron, visual pathway, and autonomic disorders.

abstract：:A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletio...

journal_title：Neurology

authors： Capellari S,Parchi P,Wolff BD,Campbell J,Atkinson R,Posey DM,Petersen RB,Gambetti P

更新日期：2002-11-26 00:00:00

abstract：:Two siblings and a third child exhibited a syndrome of progressive muscular weakness and wasting, closely resembling Werdnig-Hoffmann's disease. Autopsy of one of the siblings and the third child showed nearly total absence of myelin sheaths in the cranial and spinal nerve roots, relative preservation of axons, and no...

journal_title：Neurology

authors： Kasman M,Bernstein L,Schulman S

更新日期：1976-06-01 00:00:00

abstract：:Intramedullary cysticercosis of the spinal cord is rare; there have been only 26 previous cases. We describe a patient with low back pain, paraparesis, lumbosacral sensory loss, and signs of meningeal irritation. The clinical diagnosis was spinal cord tumor, but at surgery there was a cysticercus cyst within the lumbo...

journal_title：Neurology

authors： Akiguchi I,Fujiwara T,Matsuyama H,Muranaka H,Kameyama M

更新日期：1979-11-01 00:00:00

abstract：:Tolcapone is a potent, reversible inhibitor of catechol O-methyltransferase (COMT) intended for use as an adjunct to levodopa therapy for Parkinson's disease (PD). Findings from the first pharmacokinetics/pharmacodynamics and tolerability studies of tolcapone in volunteers are reviewed. Following linear and dose-propo...

journal_title：Neurology

authors： Jorga KM

更新日期：1998-05-01 00:00:00

abstract：OBJECTIVE:To determine the latency, magnitude, and duration of the long-duration response (LDR) to levodopa in PD in relationship to the administration of levodopa at different interdose intervals. METHODS:In six patients with PD, two different 15-day treatment regimens were used in which the drug was administered wit...

journal_title：Neurology

authors： Zappia M,Bosco D,Plastino M,Nicoletti G,Branca D,Oliveri RL,Aguglia U,Gambardella A,Quattrone A

更新日期：1999-08-11 00:00:00

abstract：:We describe a 43-year-old neurologically intact patient who reported episodes of diplopia and oscillopsia associated with a right-beating nystagmus and a skew deviation. These symptoms and signs were related to a left posterior epileptic EEG discharge. We suggest that these ocular motor signs derived from an ictal act...

journal_title：Neurology

authors： Galimberti CA,Versino M,Sartori I,Manni R,Martelli A,Tartara A

更新日期：1998-05-01 00:00:00

abstract：:The clinical and genetic features of three non-Portuguese and non-Japanese patients with aprataxin gene mutations are reported. Patient 1 came from Italy and presented with typical ataxia with ocular motor apraxia (OMA). She was homozygous for the W279X nonsense mutation, which is associated with the Portuguese foundi...

journal_title：Neurology

authors： Tranchant C,Fleury M,Moreira MC,Koenig M,Warter JM

更新日期：2003-03-11 00:00:00

abstract：:Transcranial Doppler examinations (TCD) of 24 brain-dead adult patients demonstrated persistent movement of blood within the middle cerebral arteries in 21. The characteristic pattern of Doppler shift frequencies, seen in 14, was a sharply contoured, brief anterograde systolic envelope with reversed diastolic flow. Fi...

journal_title：Neurology

authors： Ropper AH,Kehne SM,Wechsler L

更新日期：1987-11-01 00:00:00

abstract：:We investigated potential risk factors for Alzheimer's disease (AD) in a clinicopathologic study of 407 patients with definite AD, 100 non-Alzheimer dementia patients, and 50 normal subjects. The AD patients had more first-degree relatives with dementia than the non-AD dementia group (odds ratio of 1.85, 95% confidenc...

journal_title：Neurology

authors： Mendez MF,Underwood KL,Zander BA,Mastri AR,Sung JH,Frey WH 2nd

更新日期：1992-04-01 00:00:00

abstract：:In monkey extraocular muscles (EOM), a battery of histochemical reactions delineates three muscle fiber types, coarse, fine, and granular. Normal EOM are compared with EOM denervated by intracranial oculomotor nerve section. The experimentally denervated EOM fibers did not show the constellation of histologic response...

journal_title：Neurology

authors： Ringel SP,Engel WK,Bender AN,Peters ND,Yee RD

更新日期：1978-01-01 00:00:00

abstract：OBJECTIVE:To compare nondemented patients with Parkinson's disease (PD) with and without REM sleep behavior disorder (RBD) to healthy controls on quantitative EEG characteristics for both wakefulness and REM sleep. METHODS:Fifteen patients with PD (7 patients with polysomnographic-confirmed RBD [PD-RBD] and 8 patients...

journal_title：Neurology

authors： Gagnon JF,Fantini ML,Bédard MA,Petit D,Carrier J,Rompré S,Décary A,Panisset M,Montplaisir J

更新日期：2004-02-10 00:00:00

abstract：:Two cohorts of 20 patients diagnosed with neoplastic meningitis (NM) with or without encephalopathy were matched with respect to age, sex, primary tumor, and performance status. Median survival was 10 weeks (range 6 to 20 weeks) in the cohort with NM-related encephalopathy compared to 24 weeks (range 8 to 40 weeks) in...

journal_title：Neurology

authors： Chamberlain MC,Tsao-Wei D,Groshen S

更新日期：2004-12-14 00:00:00

abstract：:Neurogenic left ventricular dysfunction is a recognized complication of subarachnoid hemorrhage, but this condition has not been reported after seizure activity. The authors present two cases of neurogenic stunned myocardium after convulsive seizures, suggesting that ictal activity can lead to sympathetically mediated...

journal_title：Neurology

authors： Chin PS,Branch KR,Becker KJ

更新日期：2005-06-14 00:00:00

abstract：OBJECTIVE:In addition to the main multiple sclerosis (MS) major histocompatibility complex (MHC) risk allele (HLA DRB1*1501), investigations of the MHC have implicated several class I MHC loci (HLA A, HLA B, and HLA C) as potential independent MS susceptibility loci. Here, we evaluate the role of 3 putative protective ...

journal_title：Neurology

authors： Healy BC,Liguori M,Tran D,Chitnis T,Glanz B,Wolfish C,Gauthier S,Buckle G,Houtchens M,Stazzone L,Khoury S,Hartzmann R,Fernandez-Vina M,Hafler DA,Weiner HL,Guttmann CR,De Jager PL

更新日期：2010-08-17 00:00:00

abstract：OBJECTIVE:The pedunculopontine nucleus region (PPNR) is being investigated as a target for deep brain stimulation (DBS) in Parkinson disease (PD), particularly for gait and postural impairment. A greater understanding of how PPNR activities and oscillations are modulated with voluntary movements is crucial to the devel...

journal_title：Neurology

authors： Tsang EW,Hamani C,Moro E,Mazzella F,Poon YY,Lozano AM,Chen R

更新日期：2010-09-14 00:00:00

abstract：OBJECTIVE:To investigate the cognitive decline in dementia with Lewy bodies (DLBs) and characterize the contribution of Lewy bodies (LBs) to cognitive impairment in the presence of concurrent Alzheimer disease (AD). METHODS:Cognitive deficits and rates of progression attributable to DLB and AD neuropathology were inve...

journal_title：Neurology

authors： Johnson DK,Morris JC,Galvin JE

更新日期：2005-10-25 00:00:00

abstract：:Gamma hydroxybutyrate was administered to adult cats by intravenous infusion at varying dosages while an electroencephalogram (EEG) was recorded from electrodes placed stereotactically in the right and left hippocampus and thalamic intralaminar nucleus and from cortical electrodes. Blood cerebrospinal fluid samples we...

journal_title：Neurology

authors： Snead OC 3rd,Yu RK,Huttenlocher PR

更新日期：1976-01-01 00:00:00

abstract：:X-linked spinal and bulbar muscular atrophy (SBMA) is usually associated with feminization and hypogonadism. We were unable to find androgen receptor (AR) in the scrotal skin of three patients with SBMA, and propose that AR abnormality is the cause of the disease. ...

journal_title：Neurology

authors： Matsuura T,Demura T,Aimoto Y,Mizuno T,Moriwaka F,Tashiro K

更新日期：1992-09-01 00:00:00

abstract：:A 34-year-old man presented with a 30-year history of spasmodic dysphonia. He developed a speech disturbance 1 month after a closed head injury due to a fall. Sighing, coughing, and crying were normal. He had a tremor of the right hand when he drew a vertical line. His out-stretched right hand had a minimal dystonic p...

journal_title：Neurology

authors： Lee MS,Lee SB,Kim WC

更新日期：1996-09-01 00:00:00

abstract：:The effect of phenytoin (PHT) concentration on the elimination rate of PHT was evaluated in infants, children, and young adults ranging in age from 1 day to 22 years. As PHT concentration increased, the effective half-life (t50%) increased. In eight children, age 7 months to 4.83 years with initial concentrations betw...

journal_title：Neurology

authors： Dodson WE

更新日期：1980-02-01 00:00:00

abstract：:There is now increasing use of dopamine agonists as effective early monotherapy in the treatment of Parkinson's disease (PD). Dopamine agonists can induce an antiparkinsonian effect through actions on either D(1)-like or D(2)-like dopamine receptors, and the multiple receptor subtypes present in the brain may provide ...

journal_title：Neurology

authors： Jenner P

更新日期：2002-02-26 00:00:00

abstract：:Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are inherited peripheral neuropathies. In most cases these disorders are caused by either the duplication (in CMT1A) or the deletion (in HNPP) of a 1.5-megabase DNA fragment on chromosome 17p11.2, which cont...

journal_title：Neurology

authors： Young P,Stögbauer F,Wiebusch H,Löfgren A,Timmerman V,Van Broeckhoven C,Ringelstein EB,Assmann G,Funke H

更新日期：1998-03-01 00:00:00

abstract：BACKGROUND:Patients with ALS commonly exhibit pseudobulbar affect. METHODS:The authors conducted a multicenter, randomized, double-blind, controlled, parallel, three-arm study to test a defined combination of dextromethorphan hydrobromide (DM) and quinidine sulfate (Q) (AVP-923) for the treatment of pseudobulbar affec...

journal_title：Neurology

authors： Brooks BR,Thisted RA,Appel SH,Bradley WG,Olney RK,Berg JE,Pope LE,Smith RA,AVP-923 ALS Study Group.

更新日期：2004-10-26 00:00:00

abstract：:The authors have developed an MG activities of daily living (ADL) profile (MG-ADL)-a simple eight-question survey of MG symptoms. In 254 consecutive encounters with established MG patients, the authors compared scores from the MG-ADL to the quantitative MG score (QMG)-a standardized, reliable scale used in clinical tr...

journal_title：Neurology

authors： Wolfe GI,Herbelin L,Nations SP,Foster B,Bryan WW,Barohn RJ

更新日期：1999-04-22 00:00:00

abstract：OBJECTIVE:To determine whether comorbidity is associated with clinical (relapses, disability worsening) and MRI outcomes in multiple sclerosis (MS) by conducting a secondary analysis of the CombiRx clinical trial. METHODS:CombiRx compared interferon beta-1a, glatiramer acetate, and the combination of these agents. For...

journal_title：Neurology

authors： Salter A,Kowalec K,Fitzgerald KC,Cutter G,Marrie RA

更新日期：2020-08-04 00:00:00

abstract：:Valproic acid (VPA) has been postulated to exert its anticonvulsant effects by interaction with the postsynaptic GABA receptor. To test that hypothesis, we applied VPA in clinically appropriate concentrations to cortical neurons in dissociated cell culture. VPA did not enhance the postsynaptic effect of GABA, but did ...

journal_title：Neurology

authors： Buchhalter JR,Dichter MA

更新日期：1986-02-01 00:00:00

abstract：:We studied the effects of intravenous immunoglobulin (IVIg) in 12 patients with motor neuron syndromes associated with high titers of anti-GM1 antibodies. Five of the patients had conduction blocks. The study design was a double-blind, placebo-controlled, crossover trial with IVIg (0.4 g/kg body weight per day injecte...

journal_title：Neurology

authors： Azulay JP,Blin O,Pouget J,Boucraut J,Billé-Turc F,Carles G,Serratrice G

更新日期：1994-03-01 00:00:00

abstract：OBJECTIVE:To investigate whether the presence of cerebral microbleeds, which present as focal lesions on imaging, is associated with a diffuse loss of white matter microstructural integrity in the brain. METHODS:In the prospective, population-based Rotterdam Scan Study, a total of 4,493 participants underwent brain MR...

journal_title：Neurology

authors： Akoudad S,de Groot M,Koudstaal PJ,van der Lugt A,Niessen WJ,Hofman A,Ikram MA,Vernooij MW

更新日期：2013-11-26 00:00:00

abstract：OBJECTIVE:To determine serial MRI and CT abnormalities around calcified cysts due to cysticercosis in previously treated patients during periods of seizure activity. BACKGROUND:Some patients with calcified lesions due to cysticercosis have seizures. How and why seizures occur in this setting are unknown. METHODS:Thre...

journal_title：Neurology

authors： Nash TE,Patronas NJ

更新日期：1999-09-11 00:00:00

abstract：OBJECTIVE:To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JN...

journal_title：Neurology

authors： Kwon JM,Adams H,Rothberg PG,Augustine EF,Marshall FJ,Deblieck EA,Vierhile A,Beck CA,Newhouse NJ,Cialone J,Levy E,Ramirez-Montealegre D,Dure LS,Rose KR,Mink JW

更新日期：2011-11-15 00:00:00