Phenotypic heterogeneity of spinal muscular atrophy mapping to chromosome 5q11.2-13.3 (SMA 5q).

abstract：OBJECTIVE:To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. METHODS:This is a national multicenter cohort study. We measured motor strength, motor function,...

journal_title：Neurology

authors： Sacconi S,Briand-Suleau A,Gros M,Baudoin C,Lemmers RJLF,Rondeau S,Lagha N,Nigumann P,Cambieri C,Puma A,Chapon F,Stojkovic T,Vial C,Bouhour F,Cao M,Pegoraro E,Petiot P,Behin A,Marc B,Eymard B,Echaniz-Laguna A,Laf

更新日期：2019-05-07 00:00:00

abstract：:We performed a prospective clinical and electrophysiologic study of common peroneal (CP) neuropathy to evaluate the extent of involvement of the muscles and cutaneous areas supplied by this nerve. In 22 patients, seven had more weakness clinically in muscles innervated by the deep peroneal nerve than in those innervat...

journal_title：Neurology

authors： Sourkes M,Stewart JD

更新日期：1991-07-01 00:00:00

abstract：OBJECTIVE:To compare access to intravenous thrombolysis (IVT) for acute ischemic stroke (AIS) and its outcomes in patients with and without dementia. METHODS:This was a longitudinal cohort study of the Swedish dementia and stroke registries. Patients with preexisting dementia who had AIS from 2010 to 2014 (n = 1,356) ...

journal_title：Neurology

authors： Zupanic E,von Euler M,Kåreholt I,Contreras Escamez B,Fastbom J,Norrving B,Religa D,Kramberger MG,Winblad B,Johnell K,Eriksdotter M,Garcia-Ptacek S

更新日期：2017-10-31 00:00:00

abstract：OBJECTIVE:To determine whether metformin is associated with a lower incidence of dementia than sulfonylureas. METHODS:This was a retrospective cohort study of US veterans ≥65 years of age with type 2 diabetes who were new users of metformin or a sulfonylurea and had no dementia. Follow-up began after 2 years of therap...

journal_title：Neurology

authors： Orkaby AR,Cho K,Cormack J,Gagnon DR,Driver JA

更新日期：2017-10-31 00:00:00

abstract：:We conducted an exploratory study of young-onset Parkinson's disease (YOPD) to examine occupational and environmental factors associated with disease risk. This case-control study included 63 YOPD patients (diagnosis on or before age 50); controls (n = 68) were diagnosed with rheumatoid arthritis. Crude odds ratios (O...

journal_title：Neurology

authors： Butterfield PG,Valanis BG,Spencer PS,Lindeman CA,Nutt JG

更新日期：1993-06-01 00:00:00

abstract：OBJECTIVE:To explore the incidence of depression and anxiety and to measure quality of life in women with idiopathic intracranial hypertension (IIH), a matched group cross-sectional study was conducted. Women with IIH (n = 28) were compared with control groups of weight- and age-matched women not diagnosed with IIH (n ...

journal_title：Neurology

authors： Kleinschmidt JJ,Digre KB,Hanover R

更新日期：2000-01-25 00:00:00

abstract：:The antimigraine efficacy of many drugs may be mediated less through their primary modes of action than through the common pathway of serotonergic transmission stabilization. Migraine treatment may be symptomatic, acute/abortive, or prophylactic. Because oral drug absorption is impaired during attacks, parenteral agen...

journal_title：Neurology

authors： Raskin NH

更新日期：1993-06-01 00:00:00

abstract：:The clinical and radiologic impact of developing neutralizing antibodies (NAbs) to interferon beta (IFNbeta) while on this therapy for multiple sclerosis (MS) is assessed. On the basis of Class II and III evidence, it is concluded that treatment of patients with MS with IFNbeta (Avonex, Betaseron, or Rebif) is associa...

journal_title：Neurology

authors： Goodin DS,Frohman EM,Hurwitz B,O'Connor PW,Oger JJ,Reder AT,Stevens JC

更新日期：2007-03-27 00:00:00

abstract：:Relating the onset of clinical attacks as recorded on a videotape to surface and depth electrographic events improves our ability to define the local or diffuse origin of seizures. In two patients with complex partial seizures, all 14 attacks appeared 3 to 6 seconds after focal discharges began in the amygdala or hipp...

journal_title：Neurology

authors： Delgado-Escueta AV,Nashold B,Freedman M,Keplinger C,Waddell G,Miller P,Carwille S

更新日期：1979-04-01 00:00:00

abstract：OBJECTIVE:To characterize brain functional connectivity in subjects with prechiasmatic visual system damage and relate functional connectivity features to extent of vision loss. METHODS:In this case-control study, resting-state, eyes-closed EEG activity was recorded in patients with partial optic nerve damage (n = 15)...

journal_title：Neurology

authors： Bola M,Gall C,Moewes C,Fedorov A,Hinrichs H,Sabel BA

更新日期：2014-08-05 00:00:00

abstract：OBJECTIVE:To investigate whether arginine methylation is altered in patients with amyotrophic lateral sclerosis (ALS) and how it affects disease severity, progression, and prognosis. METHODS:We compared the immunoreactivity of protein arginine methyltransferase 1 (PRMT1) and its products, asymmetric dimethylated prote...

journal_title：Neurology

authors： Ikenaka K,Atsuta N,Maeda Y,Hotta Y,Nakamura R,Kawai K,Yokoi D,Hirakawa A,Taniguchi A,Morita M,Mizoguchi K,Mochizuki H,Kimura K,Katsuno M,Sobue G

更新日期：2019-04-16 00:00:00

abstract：OBJECTIVE:To construct a grading score that predicts neurologic function 1 year after diagnosis of anti-NMDA receptor (NMDAR) encephalitis. METHODS:Three hundred eighty-two patients with detailed information and functional status at 1 year were studied. Factors associated with poor status (defined as modified Rankin S...

journal_title：Neurology

authors： Balu R,McCracken L,Lancaster E,Graus F,Dalmau J,Titulaer MJ

更新日期：2019-01-15 00:00:00

abstract：:The authors studied the tolerability of subcutaneous interferon beta-1a (IFNbeta-1a) in 51 patients with early-onset multiple sclerosis. The most frequent systemic adverse effects were flu-like symptoms in 65%. Laboratory abnormalities included asymptomatic leukopenia (27%) and elevated hepatic transaminases (35%). Tr...

journal_title：Neurology

authors： Pohl D,Rostasy K,Gärtner J,Hanefeld F

更新日期：2005-03-08 00:00:00

abstract：:We performed 15 dynamic gadolinium-DTPA (Gd-DTPA)-enhanced MRI studies in 8 patients with relapsing and remitting multiple sclerosis; 7 were follow-up studies. We measured the time course of enhancement in 102 enhancing lesions for up to 384 minutes, with rest breaks. Immediate postcontrast MRIs demonstrated many diff...

journal_title：Neurology

authors： Kermode AG,Tofts PS,Thompson AJ,MacManus DG,Rudge P,Kendall BE,Kingsley DP,Moseley IF,du Boulay EP,McDonald WI

更新日期：1990-02-01 00:00:00

abstract：:We systematically reviewed and analyzed published and unpublished cases of lamotrigine-associated adverse drug reactions consistent with the features of the anticonvulsant hypersensitivity syndrome (AHS) to identify characteristics of the syndrome. We identified 26 cases (mean age, 28+/-18 years; range, 3.5 to 74 year...

journal_title：Neurology

authors： Schlienger RG,Knowles SR,Shear NH

更新日期：1998-10-01 00:00:00

abstract：:Concentrations of cyclic adenosine 3',5' monophosphate (cAMP) were significantly lower in parkinsonian patients than in controls, but concentrations of guanosine 3',5' monophosphate (cGMP) were not altered. Both cAMP and cGMP levels were lower in patients with more severe symptoms on the left side of the body. Somatos...

journal_title：Neurology

authors： Volicer L,Beal MF,Direnfeld LK,Marquis JK,Albert ML

更新日期：1986-01-01 00:00:00

abstract：:We report a Japanese boy with muscular dystrophy whose clinical symptoms were intermediate between those usually considered typical of Duchenne and Becker muscular dystrophies. The patient had a large inframe deletion extending from exons 3 to 41 of the dystrophin gene, which would be expected to cause the production ...

journal_title：Neurology

authors： Takeshima Y,Nishio H,Narita N,Wada H,Ishikawa Y,Ishikawa Y,Minami R,Nakamura H,Matsuo M

更新日期：1994-09-01 00:00:00

abstract：:A 78-year-old woman presented with a right basal ganglia infarct 6 weeks after a left herpes zoster ophthalmicus. MR angiography showed focal segmental stenosis of the proximal segments of the anterior, middle, and posterior cerebral arteries. Varicella DNA was detected in the CSF by polymerase chain reaction (PCR). T...

journal_title：Neurology

authors： Melanson M,Chalk C,Georgevich L,Fett K,Lapierre Y,Duong H,Richardson J,Marineau C,Rouleau GA

更新日期：1996-08-01 00:00:00

abstract：OBJECTIVE:To determine the association between hypertensive disorders of pregnancy (HDP) and cognitive impairment 15 years after pregnancy, we measured cognitive performance in 115 women with a history of HDP and in 481 women with a previous normotensive pregnancy. METHODS:This was a nested cohort study embedded in a ...

journal_title：Neurology

authors： Adank MC,Hussainali RF,Oosterveer LC,Ikram MA,Steegers EAP,Miller EC,Schalekamp-Timmermans S

更新日期：2021-02-02 00:00:00

abstract：:Migraine is a frequent familial disorder that, in common with most multifactorial disorders, has an unknown etiology. The authors identified several families with multiple individuals affected by typical migraine using a single set of diagnostic criteria and studied these families for cosegregation between the disorde...

journal_title：Neurology

authors： Nyholt DR,Lea RA,Goadsby PJ,Brimage PJ,Griffiths LR

更新日期：1998-05-01 00:00:00

abstract：:Moderate hypothermia (33 degrees C) was induced for 7 and 3 days, respectively, in two patients with multiple sclerosis. In both patients, striking improvement of clinical signs persisted throughout the period of cooling, indicating the potential for sustained reversal of the neurologic deficit. Hypothermia may aid ma...

journal_title：Neurology

authors： Symington GR,Mackay IR,Currie TT

更新日期：1977-03-01 00:00:00

abstract：BACKGROUND:Multiple system atrophy (MSA) is an atypical parkinsonian syndrome including cerebellar impairment and poor response to levodopa. We assessed right hand motor activation in patients with MSA before and after an acute levodopa challenge in comparison with patients with PD and healthy volunteers (HVs). METHOD...

journal_title：Neurology

authors： Payoux P,Brefel-Courbon C,Ory-Magne F,Regragui W,Thalamas C,Balduyck S,Durif F,Azulay JP,Tison F,Blin O,Esquerre JP,Rascol O

更新日期：2010-09-28 00:00:00

abstract：:We studied 35 patients with nonseptic cardiogenic cerebral emboli. In 28 cases, there was sudden onset with maximal neurologic deficit within 1 hour; in 7 cases, there was progression in 24 hours. In six cases, neurologic abnormality worsened in the first week after an initial period of stabilization. CT showed eviden...

journal_title：Neurology

authors： Weisberg LA

更新日期：1985-06-01 00:00:00

abstract：:Acute in-stent thrombosis is a well-known complication of carotid angioplasty and stenting (CAS) and often due to resistance to or inadequate treatment with platelet-inhibiting agents. The authors report three cases of a delayed in-stent thrombosis after more than a week but less than 3 months after CAS. In all cases,...

journal_title：Neurology

authors： Buhk JH,Wellmer A,Knauth M

更新日期：2006-05-23 00:00:00

abstract：OBJECTIVE:To investigate the safety and efficacy of escalating doses of the semi-synthetic triterpenoid omaveloxolone in patients with mitochondrial myopathy. METHODS:In cohorts of 8-13, 53 participants were randomized double-blind to 12 weeks of treatment with omaveloxolone 5, 10, 20, 40, 80, or 160 mg, or placebo. O...

journal_title：Neurology

authors： Madsen KL,Buch AE,Cohen BH,Falk MJ,Goldsberry A,Goldstein A,Karaa A,Koenig MK,Muraresku CC,Meyer C,O'Grady M,Scaglia F,Shieh PB,Vockley J,Zolkipli-Cunningham Z,Haller RG,Vissing J

更新日期：2020-02-18 00:00:00

abstract：:We evaluated ventilation during cycle exercise in four men lacking myophosphorylase. In submaximal exercise of similar relative intensity, ventilation was higher relative to oxygen uptake in McArdle patients than in normal men. The exercise ventilatory response returned to normal after glucose infusion, by fasting to ...

journal_title：Neurology

authors： Haller RG,Lewis SF

更新日期：1986-05-01 00:00:00

abstract：:This review summarizes evidence, primarily from recent human studies, indirectly supporting a novel hypothesis: that the assessment of healthy individuals' responses to standardized noxious stimuli in a controlled laboratory environment has important implications for the later risk of developing a broad spectrum of ch...

journal_title：Neurology

authors： Edwards RR

更新日期：2005-08-09 00:00:00

abstract：OBJECTIVE:To determine the effect of injections of botulinum toxin on simple motor tics. BACKGROUND:Case series with unblinded assessments have reported improvement in tic frequency and associated urge with botulinum toxin. METHODS:Patients with suitable simple motor tics were randomized to receive botulinum toxin an...

journal_title：Neurology

authors： Marras C,Andrews D,Sime E,Lang AE

更新日期：2001-03-13 00:00:00

abstract：:Serial determinations of spinal fluid homovanillic acid (HVA) and 5-hydroxyindoleacetic acid (5-HIAA) were made in four patients with the Lesch-Nyhan syndrome over a 5-year period. Control spinal fluids for age-matched comparison were obtained from 194 neurologic and nonneurologic pediatric patients. A rapid decline i...

journal_title：Neurology

authors： Silverstein FS,Johnston MV,Hutchinson RJ,Edwards NL

更新日期：1985-06-01 00:00:00

abstract：OBJECTIVE:Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicability of the 2010 International League Against Epilepsy (ILAE) organization of epilepsy syndromes, and to integrate molecular genetics with phenotypic analyses. METHODS:A total of 558 twin pair...

journal_title：Neurology

authors： Vadlamudi L,Milne RL,Lawrence K,Heron SE,Eckhaus J,Keay D,Connellan M,Torn-Broers Y,Howell RA,Mulley JC,Scheffer IE,Dibbens LM,Hopper JL,Berkovic SF

更新日期：2014-09-16 00:00:00