Quantifying physical decline in juvenile neuronal ceroid lipofuscinosis (Batten disease).

abstract：OBJECTIVE:To devise a neurophysiologic strategy to select X-linked Charcot-Marie-Tooth neuropathy syndrome (CMTX) families for connexin 32 mutation screening. BACKGROUND:Once the common chromosome 17 DNA duplication (CMT1A syndrome) has been excluded, clinical features are not sufficiently distinctive to select which ...

journal_title：Neurology

authors： Nicholson GA,Yeung L,Corbett A

更新日期：1998-11-01 00:00:00

abstract：OBJECTIVE:To examine the association between body mass index (BMI) and the risk of Parkinson disease (PD). METHODS:Study cohorts included 22,367 Finnish men and 23,439 women 25 to 59 years of age without a history of PD at baseline. Hazards ratios (HRs) of incident PD were estimated for different levels of BMI. RESUL...

journal_title：Neurology

authors： Hu G,Jousilahti P,Nissinen A,Antikainen R,Kivipelto M,Tuomilehto J

更新日期：2006-12-12 00:00:00

abstract：:We analyzed the clinical, CT, and angiographic findings in 50 black patients with carotid transient ischemic attacks (TIAs). Thirty-two percent had TIAs lasting less than 1 hour, 26% had TIAs lasting 1 to 6 hours, and 42% had TIAs lasting 6 to 24 hours. Fifty-two percent of TIA patients had CT evidence of cerebral inf...

journal_title：Neurology

authors： Weisberg LA

更新日期：1991-09-01 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：OBJECTIVE:To identify the cause of hypokalemic periodic paralysis (HOKPP) in a family whose disease is not caused by a mutation in the dihydropyridine-sensitive (DHP) receptor alpha1-subunit gene (CACNA1S). BACKGROUND:Hypokalemic periodic paralysis is primarily caused by mutations within CACNA1S. Genetic heterogeneity...

journal_title：Neurology

authors： Bulman DE,Scoggan KA,van Oene MD,Nicolle MW,Hahn AF,Tollar LL,Ebers GC

更新日期：1999-12-10 00:00:00

abstract：OBJECTIVE:To compare the clinical features of patients with chronic daily headache (CDH) with idiopathic intracranial hypertension without papilledema (IIHWOP) to those with normal CSF pressure. METHODS:A case-control study was conducted at a tertiary headache center. Cases consisted of 25 consecutive patients (24 wom...

journal_title：Neurology

authors： Wang SJ,Silberstein SD,Patterson S,Young WB

更新日期：1998-07-01 00:00:00

abstract：OBJECTIVE:This methodologic study investigates if the 2-minute walk test (2MWT) can be a valid alternative to the 6-minute walk test (6MWT) to describe walking capability in patients with neuromuscular diseases. METHODS:Patients (n = 115) with different neuromuscular diseases were invited to participate on 2 test days...

journal_title：Neurology

authors： Andersen LK,Knak KL,Witting N,Vissing J

更新日期：2016-02-02 00:00:00

abstract：:The authors identified two novel heterozygous missense transitions in the gene for the mitochondrial polymerase gammaA subunit (POLG) in a family with an autosomal recessive syndrome comprising progressive external ophthalmoplegia (PEO), polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders. Thes...

journal_title：Neurology

authors： Mancuso M,Filosto M,Bellan M,Liguori R,Montagna P,Baruzzi A,DiMauro S,Carelli V

更新日期：2004-01-27 00:00:00

abstract：BACKGROUND:Mild parkinsonian signs (MPS) are associated with prevalent and incident dementia but it is not known whether they are associated with mild cognitive impairment (MCI). OBJECTIVE:To determine whether MPS and specific MPS (changes in axial function, rigidity, tremor) are associated with MCI in nondemented com...

journal_title：Neurology

authors： Louis ED,Schupf N,Manly J,Marder K,Tang MX,Mayeux R

更新日期：2005-04-12 00:00:00

abstract：OBJECTIVE:Evidence of a relation between use of lipid lowering drugs and cognitive outcomes is mixed. This study aimed to test the association between use of statins and incidence of dementia and cognitive impairment without dementia (CIND) over 5 years of follow-up. METHODS:Data were from a population-based cohort st...

journal_title：Neurology

authors： Cramer C,Haan MN,Galea S,Langa KM,Kalbfleisch JD

更新日期：2008-07-29 00:00:00

abstract：OBJECTIVES:To estimate the risk to public safety posed by drivers with epilepsy, the authors compared annual totals and disease-specific risk for fatal crashes associated with seizures and other medical conditions. They compared individual risks for fatal crashes due to seizures and other causes of mortality in patient...

journal_title：Neurology

authors： Sheth SG,Krauss G,Krumholz A,Li G

更新日期：2004-09-28 00:00:00

abstract：OBJECTIVE:To determine whether the pathologic mechanisms of AD alter the brain networks subserving performance of a verbal recognition task. BACKGROUND:Functional imaging studies comparing task-related activation in AD patients and controls generally have not used network analysis and have not controlled for task diff...

journal_title：Neurology

authors： Stern Y,Moeller JR,Anderson KE,Luber B,Zubin NR,DiMauro AA,Park A,Campbell CE,Marder K,Bell K,Van Heertum R,Sackeim HA

更新日期：2000-11-14 00:00:00

abstract：OBJECTIVE:To investigate the pathogenesis of proximal diabetic neuropathy (PDN) with nerve and muscle biopsies. BACKGROUND:Recent evidence suggests that nerve ischemia secondary to immune-mediated vasculopathy rather than diabetic microangiopathy may be responsible for PDN. METHOD:- Fifteen patients with PDN and two ...

journal_title：Neurology

authors： Kelkar P,Masood M,Parry GJ

更新日期：2000-07-12 00:00:00

abstract：BACKGROUND:Hereditary neuralgic amyotrophy (HNA) is an autosomal-dominant disorder associated with recurrent, episodic, painful, brachial neuropathy. The gene for HNA has been mapped to chromosome 17q25. Characteristic features including hypotelorism, short stature, and cleft palate occur in some patients. OBJECTIVE:T...

journal_title：Neurology

authors： Jeannet PY,Watts GD,Bird TD,Chance PF

更新日期：2001-12-11 00:00:00

abstract：:In 10 patients with myasthenia gravis, we studied the relationship between plasma pyridostigmine levels and five measures of neuromuscular function (NMF) following single oral doses of 60 to 120 mg. The NMF measures were percent decrement of the evoked muscle compound potential, maximum force, force-time integral, vit...

journal_title：Neurology

authors： Milner-Brown HS,Mellenthin M,Sharma ML,Miller RG

更新日期：1987-05-01 00:00:00

abstract：OBJECTIVE:To assess the effects of gabapentin on sensory and motor symptoms in patients with restless legs syndrome (RLS). METHODS:Patients with RLS (22 idiopathic, 2 secondary to iron deficiency) were randomized and treated for 6 weeks with either gabapentin or placebo. After a 1-week washout they crossed over to the...

journal_title：Neurology

authors： Garcia-Borreguero D,Larrosa O,de la Llave Y,Verger K,Masramon X,Hernandez G

更新日期：2002-11-26 00:00:00

abstract：:We report the treatment of four patients with inclusion-body myositis (IBM) and severe slowly progressive weakness using high-dose intravenous immunoglobulin (IVIg). After two monthly infusions, the strength of the proximal and less atrophic muscle groups improved or normalized in three of the four patients. The impro...

journal_title：Neurology

authors： Soueidan SA,Dalakas MC

更新日期：1993-05-01 00:00:00

abstract：:Neurologic abnormalities were seen in 13 of 20 patients with a history of chronic solvent vapor (primarily toluene) abuse for 2 or more years. The patients were evaluated after an abstinence period of at least 4 weeks, to avoid neurologic effects of acute intoxication. Neurologic signs included cognitive (60%), pyrami...

journal_title：Neurology

authors： Hormes JT,Filley CM,Rosenberg NL

更新日期：1986-05-01 00:00:00

abstract：:The authors evaluated education attainment and neuropsychological deficits in children with sickle cell disease (SCD) and silent cerebral infarcts. Children with silent infarcts had twice the rate of school difficulties as children without infarcts. Eighty percent of silent infarct cases had clinically significant cog...

journal_title：Neurology

authors： Schatz J,Brown RT,Pascual JM,Hsu L,DeBaun MR

更新日期：2001-04-24 00:00:00

abstract：:The prevalence and psychopathologic features of psychiatric adverse events (PAE) in 517 patients taking levetiracetam (LEV) were investigated. Fifty-three (10.1%) patients developed PAE. A significant association was found with previous psychiatric history, history of febrile convulsions, and history of status epilept...

journal_title：Neurology

authors： Mula M,Trimble MR,Yuen A,Liu RS,Sander JW

更新日期：2003-09-09 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：:Diffusion-weighted MRI (DWI) was used in three patients with autopsy-proven sporadic Creutzfeldt-Jakob disease (CJD) to provide a rapid noninvasive way to make this sometimes confusing diagnosis. DWI prompted the diagnosis of CJD at an early stage and appears to be particularly useful for monitoring the progression of...

journal_title：Neurology

authors： Demaerel P,Heiner L,Robberecht W,Sciot R,Wilms G

更新日期：1999-01-01 00:00:00

abstract：:We reviewed the clinical and electrophysiologic features of 36 patients with increased titers of IgM anti-GM1 antibodies. Mildly elevated titers of up to 3,200 were not associated with any particular clinical syndrome or disease. Clinically, 14 of 16 patients with highly elevated titers of 6,400 or higher had progress...

journal_title：Neurology

authors： Kinsella LJ,Lange DJ,Trojaborg W,Sadiq SA,Younger DS,Latov N

更新日期：1994-07-01 00:00:00

abstract：:The authors studied the association of an exon 4 (E4*epsilon2/3/4) and three promoter polymorphisms of APOE with disease course and severity stratified by gender in 221 patients with multiple sclerosis from two overlapping population-based prevalence cohorts. Women carriers of the E4*epsilon2 allele took longer to att...

journal_title：Neurology

authors： Kantarci OH,Hebrink DD,Achenbach SJ,Pittock SJ,Altintas A,Schaefer-Klein JL,Atkinson EJ,De Andrade M,McMurray CT,Rodriguez M,Weinshenker BG

更新日期：2004-03-09 00:00:00

abstract：OBJECTIVE:To study activin signaling and its blockade in sporadic inclusion body myositis (sIBM) through translational studies and a randomized controlled trial. METHODS:We measured transforming growth factor β signaling by SMAD2/3 phosphorylation in muscle biopsies of 50 patients with neuromuscular disease (17 with s...

journal_title：Neurology

authors： Amato AA,Sivakumar K,Goyal N,David WS,Salajegheh M,Praestgaard J,Lach-Trifilieff E,Trendelenburg AU,Laurent D,Glass DJ,Roubenoff R,Tseng BS,Greenberg SA

更新日期：2014-12-09 00:00:00

abstract：OBJECTIVE:To assess the safety, tolerability, and biological activity of glial cell line-derived neurotrophic factor (GDNF) administered by an implanted intracerebroventricular (ICV) catheter and access port in advanced PD. BACKGROUND:GDNF is a peptide that promotes survival of dopamine neurons. It improved 6-OHDA- or...

journal_title：Neurology

authors： Nutt JG,Burchiel KJ,Comella CL,Jankovic J,Lang AE,Laws ER Jr,Lozano AM,Penn RD,Simpson RK Jr,Stacy M,Wooten GF,ICV GDNF Study Group. Implanted intracerebroventricular. Glial cell line-derived neurotrophic factor.

更新日期：2003-01-14 00:00:00

abstract：:The existence and specificity of a characteristic behavioral syndrome among patients with temporal lobe epilepsy (TLE) remains controversial. The behavioral pattern of many epilepsy patients differs from that of age-, sex-, and socioeconomic-matched control subjects. Patients with TLE and other forms of epilepsy can e...

journal_title：Neurology

authors： Devinsky O,Najjar S

更新日期：1999-01-01 00:00:00

abstract：:We studied four patients with neurologic disorders of the lumbosacral plexus. Except for location of symptoms, the disorder confirmed to criteria established for the clinical diagnosis of brachial plexus neuritis. Acute onset of pain in one or both legs was followed by weakness, loss of stretch reflexes, and sometimes...

journal_title：Neurology

authors： Sander JE,Sharp FR

更新日期：1981-04-01 00:00:00

abstract：:The blink reflex may be evoked by auditory click or light stimulation, the latter being constantly present in all healthy subjects. The latency and amplitude of the light-stimulus-evoked blink response (L-BR) is influenced by the light intensity, distance between the light stimulus and the eye, attention, and backgrou...

journal_title：Neurology

authors： Yates SK,Brown WF

更新日期：1981-03-01 00:00:00

abstract：OBJECTIVE:To determine the efficacy and tolerability of unilateral thalamic deep brain stimulation (DBS) for patients with medically refractory essential tremor (ET) and the tremor associated with Parkinson's disease (PD). BACKGROUND:The tremor of ET and PD may produce functional disability despite optimal medical the...

journal_title：Neurology

authors： Ondo W,Jankovic J,Schwartz K,Almaguer M,Simpson RK

更新日期：1998-10-01 00:00:00