Phenotypic expression of X-linked dystonia-parkinsonism (lubag) in two women.

abstract：:Manipulation of afferent inputs may temporarily modulate dystonic spasms. Ten patients with writer's cramp were enrolled in a double-blind, randomized, crossover study in which the effects of transcutaneous electrical stimulation (TENS) and placebo treatment were compared. Patients were evaluated using four measures o...

journal_title：Neurology

authors： Tinazzi M,Farina S,Bhatia K,Fiaschi A,Moretto G,Bertolasi L,Zarattini S,Smania N

更新日期：2005-06-14 00:00:00

abstract：OBJECTIVE:To determine the surgical outcome and factors of predictive value in patients undergoing reoperation for intractable partial epilepsy. METHODS:The authors retrospectively studied the operative outcome in 64 consecutive patients who underwent reoperation for intractable partial epilepsy. Demographic data, res...

journal_title：Neurology

authors： Siegel AM,Cascino GD,Meyer FB,McClelland RL,So EL,Marsh WR,Scheithauer BW,Sharbrough FW

更新日期：2004-12-28 00:00:00

abstract：:The authors report eight patients with primary dural lymphoma (PDL). All patients had extra-axial masses on MRI that diffusely enhanced after gadolinium. Pathology revealed low-grade non-Hodgkin lymphoma (marginal zone lymphoma of MALT [mucosa-associated lymphoid tissue] type) in all patients. All patients underwent r...

journal_title：Neurology

authors： Iwamoto FM,DeAngelis LM,Abrey LE

更新日期：2006-06-13 00:00:00

abstract：OBJECTIVE:To determine the incidence and clinical effects of antibodies that develop during treatment with natalizumab. METHODS:In two randomized, double-blind, placebo-controlled studies (natalizumab safety and efficacy in relapsing remitting multiple sclerosis [MS, AFFIRM] and safety and efficacy of natalizumab in c...

journal_title：Neurology

authors： Calabresi PA,Giovannoni G,Confavreux C,Galetta SL,Havrdova E,Hutchinson M,Kappos L,Miller DH,O'Connor PW,Phillips JT,Polman CH,Radue EW,Rudick RA,Stuart WH,Lublin FD,Wajgt A,Weinstock-Guttman B,Wynn DR,Lynn F,Panzar

更新日期：2007-10-02 00:00:00

abstract：OBJECTIVE:To investigate whether neuronal activity-regulated pentraxin (Narp) colocalizes with hypocretin (Hcrt or orexin) in the normal human brain and to determine if Narp staining is lost in the narcoleptic human brain. BACKGROUND:Human narcolepsy is characterized by a loss of the peptide hypocretin in the hypothal...

journal_title：Neurology

authors： Blouin AM,Thannickal TC,Worley PF,Baraban JM,Reti IM,Siegel JM

更新日期：2005-10-25 00:00:00

abstract：:Although the long-term effects of acute anoxia have been studied, the effects of chronic hypoxia on the developing human brain have received little attention. We studied children with a cyanotic congenital heart defect to assess the impact of chronic hypoxia by eight measures: neurologic examination, visual evoked res...

journal_title：Neurology

authors： O'Dougherty M,Wright FS,Loewenson RB,Torres F

更新日期：1985-01-01 00:00:00

abstract：OBJECTIVE:We describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2 gene. METHODS:Exome sequencing was used to identify a de novo mutation in th...

journal_title：Neurology

authors： Butterfield RJ,Stevenson TJ,Xing L,Newcomb TM,Nelson B,Zeng W,Li X,Lu HM,Lu H,Farwell Gonzalez KD,Wei JP,Chao EC,Prior TW,Snyder PJ,Bonkowsky JL,Swoboda KJ

更新日期：2014-04-15 00:00:00

abstract：OBJECTIVE:To investigate the role of blocking antibodies in neonatal Guillain-Barré syndrome (GBS) occurring 12 days postpartum in a child born to a mother with ongoing GBS. METHODS:We studied plasma filtrate, purified IgG, and monovalent Fab fragments from the affected mother and serum from the neonate as well as ser...

journal_title：Neurology

authors： Buchwald B,de Baets M,Luijckx GJ,Toyka KV

更新日期：1999-10-12 00:00:00

abstract：:Using a 1.5-tesla GE Signa MR scanner, we imaged the brains of 14 right-handed Tourette's syndrome (TS) patients (11 men, three women), aged 18 to 49 years, who had minimal lifetime neuroleptic exposure. We also studied an equal number of normal controls individually matched for age, sex, and handedness and group-matc...

journal_title：Neurology

authors： Peterson B,Riddle MA,Cohen DJ,Katz LD,Smith JC,Hardin MT,Leckman JF

更新日期：1993-05-01 00:00:00

abstract：:Antiepileptic drug use was documented before and after temporal lobectomy. Carbamazepine, phenytoin, and clobazam were the most commonly used drugs, both pre- and postoperatively. Preoperatively, polytherapy was used in 78% of patients; at 6 months follow-up, 47%; at 12 months, 18%; and at 24 months, 14%. Preoperative...

journal_title：Neurology

authors： Maher J,McLachlan RS

更新日期：1998-07-01 00:00:00

abstract：BACKGROUND:Photophobia is an abnormal sensitivity to light experienced by migraineurs during attacks. The pathophysiology of photophobia is poorly understood. Nevertheless, 2 facts appear to have a link with photophobia: visual cortex hyperexcitability on the one hand and interactions between visual pathway and trigemi...

journal_title：Neurology

authors： Denuelle M,Boulloche N,Payoux P,Fabre N,Trotter Y,Géraud G

更新日期：2011-01-18 00:00:00

abstract：:A 47-year-old woman had myasthenia gravis with only moderate weakness and a consistently poor response to anticholinesterase medication. She was investigated with routine electrophysiologic studies and single-fiber electromyography. The studies showed a limited effect of anticholinesterase medication. There was a decr...

journal_title：Neurology

authors： Schwartz MS,Stålberg E

更新日期：1975-01-01 00:00:00

abstract：:The local cerebral metabolic rate for glucose (1=CMRg) was computed in rats with methylphenidate-induced stereotypy using the quantitative 14C-2-deoxyglucose (2-DG) technique. Four rats received methylphenidate 15 mg per kilogram IP. Compared to five control animals, treated rats showed statistically significant (p le...

journal_title：Neurology

authors： Bell RD,Alexander GM,Schwartzman RJ,Yu J

更新日期：1982-04-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is the most common fatal neuromuscular disease of infancy. SMA type I is the most severe and mortality is usually due to respiratory failure. In type II the disability is of later onset and less severe, and prognosis has improved primarily due to supportive care. Type III is the mildest f...

journal_title：Neurology

authors： Hirtz D,Iannaccone S,Heemskerk J,Gwinn-Hardy K,Moxley R 3rd,Rowland LP

更新日期：2005-11-08 00:00:00

abstract：BACKGROUND:No data exist on whether the syndrome of amnestic mild cognitive impairment occurs in the oldest old, or if the relationships for functional status and neuropsychometric performance based on clinical diagnosis hold true in this age group. DESIGN/METHODS:The authors performed comprehensive neurologic evaluat...

journal_title：Neurology

authors： Boeve B,McCormick J,Smith G,Ferman T,Rummans T,Carpenter T,Ivnik R,Kokmen E,Tangalos E,Edland S,Knopman D,Petersen R

更新日期：2003-02-11 00:00:00

abstract：OBJECTIVE:To determine quantitative size thresholds for enlargement of the optic nerve, chiasm, and tract in children with neurofibromatosis type 1 (NF1). METHODS:Children 0.5-18.6 years of age who underwent high-resolution T1-weighted MRI were eligible for inclusion. This consisted of children with NF1 with or withou...

journal_title：Neurology

authors： Avery RA,Mansoor A,Idrees R,Biggs E,Alsharid MA,Packer RJ,Linguraru MG

更新日期：2016-06-14 00:00:00

abstract：:Methionine-enkephalin, substance P, and homovanillic acid concentrations were measured in the CSF of subjects not affected by neurologic disorders (group 1), and in parkinsonian patients who had a slight or moderate (group 2) or severe (group 3) disability. Homovanillic acid and substance P concentrations in the CSF o...

journal_title：Neurology

authors： Pezzoli G,Panerai AE,Di Giulio A,Longo A,Passerini D,Carenzi A

更新日期：1984-04-01 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：:Significant evidence has accrued suggesting that antibodies to voltage-gated calcium channel are observed in at least some patients with sporadic ALS (SALS) and that such antibodies alter the function of these ion channels in vitro and in vivo. Further, passive transfer of these immunoglobulin-containing fractions int...

journal_title：Neurology

authors： Smith RG,Siklos L,Alexianu ME,Engelhardt JI,Mosier DR,Colom L,Habib Mohamed A,Appel SH

更新日期：1996-10-01 00:00:00

abstract：:The authors performed linkage analysis in 39 families with autosomal recessive early-onset PD (AR-EOPD) negative for parkin and DJ-1 mutations. Eight families including three Japanese, two Taiwanese, one Turkish, one Israeli, and one Philippine showed evidence of linkage with PARK6 with multipoint log of the odds (lod...

journal_title：Neurology

authors： Hatano Y,Sato K,Elibol B,Yoshino H,Yamamura Y,Bonifati V,Shinotoh H,Asahina M,Kobayashi S,Ng AR,Rosales RL,Hassin-Baer S,Shinar Y,Lu CS,Chang HC,Wu-Chou YH,Ataç FB,Kobayashi T,Toda T,Mizuno Y,Hattori N

更新日期：2004-10-26 00:00:00

abstract：:The progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death. Neurologic signs tha...

journal_title：Neurology

authors： Knupp K,Wirrell E

更新日期：2014-02-04 00:00:00

abstract：:Clinicians have long suspected an association of classic amyotrophic lateral sclerosis (ALS) with Parkinson's disease (PD), dementia, or both. If proven, this would raise the possibility of a shared genetic susceptibility to the three disorders. To investigate this hypothesis, we compared 151 newly diagnosed ALS patie...

journal_title：Neurology

authors： Majoor-Krakauer D,Ottman R,Johnson WG,Rowland LP

更新日期：1994-10-01 00:00:00

abstract：:Sensorimotor polyneuropathy developed in two workers who had been exposed to ethylene oxide gas repeatedly for several months. Sural nerve biopsies revealed axonal degeneration with mild changes of the myelin sheath. Unmyelinated fibers were also involved. Muscle biopsies showed typical denervation atrophy. Symptoms i...

journal_title：Neurology

authors： Kuzuhara S,Kanazawa I,Nakanishi T,Egashira T

更新日期：1983-03-01 00:00:00

abstract：:Comprehensive management of patients with multiple sclerosis (MS) includes treatment to modify the disease course and interventions to address the persistent symptoms and consequences of this chronic illness, which can affect patients for decades. Although much excitement and attention accompanies new therapeutic init...

journal_title：Neurology

authors： Cohen BA

更新日期：2008-12-09 00:00:00

abstract：OBJECTIVE:Cerebral cavernous malformations (CCM) occur in familial and sporadic forms that cannot be distinguished by phenotype. Mutations in Krit1, a gene located at the CCM1 locus on chromosome 7q21, account for the majority of familial CCM cases. The authors investigated the role that mutations at the CCM1 locus pla...

journal_title：Neurology

authors： Reich P,Winkler J,Straube A,Steiger HJ,Peraud A

更新日期：2003-04-08 00:00:00

abstract：:Plasma levels of six short-chain fatty acids (SCFA) were measured in 23 Reye's syndrome patients. In sequential measurements, only propionic acid correlated closely with neurologic severity. Although admission SCFA levels were slightly elevated, there were no significant differences between patients grouped by severit...

journal_title：Neurology

authors： McArthur B,Sarnaik AP,Mitchell RA

更新日期：1984-06-01 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：:The visual-motor adaptation to lateral displacement of vision by prism glasses was studied in normal individuals and patients with cerebellar dysfunction, Parkinson's disease, right or left cerebral hemisphere lesions, Alzheimer's disease, or Korsakoff's syndrome. Adaptation was analyzed in two phases, the return to n...

journal_title：Neurology

authors： Weiner MJ,Hallett M,Funkenstein HH

更新日期：1983-06-01 00:00:00

abstract：:Following commissurotomy, it is usually the case that information presented to the left hemisphere can be named and described, while information presented to the mute, right hemisphere cannot be spoken about. In the present study, it was discovered that under special test conditions, an MRI-verified, callosally sectio...

journal_title：Neurology

authors： Gazzaniga MS,Holtzman JD,Smylie CS

更新日期：1987-04-01 00:00:00

abstract：:Acid protease activity was increased in skeletal muscle of patients with ALS. The highest levels of activity were found in individuals with the clinically and histologically most affected muscle. High levels of proteolytic activity correlated with the extent of muscle atrophy, the presence of target fibers and the ove...

journal_title：Neurology

authors： Antel JP,Chelmicka-Schorr E,Sportiello M,Stefansson K,Wollmann RL,Arnason BG

更新日期：1982-08-01 00:00:00