Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease.

abstract：BACKGROUND:Inherited and de novo mutations in sodium channel genes underlie a variety of channelopathies. Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of in...

journal_title：Neurology

authors： Liao Y,Anttonen AK,Liukkonen E,Gaily E,Maljevic S,Schubert S,Bellan-Koch A,Petrou S,Ahonen VE,Lerche H,Lehesjoki AE

更新日期：2010-10-19 00:00:00

abstract：:A 25-year-old woman with Kearns-Sayre syndrome (KSS) had complete external ophthalmoplegia, short stature, ataxia, cardiac conduction defects, and pigmentary retinopathy. Muscle biopsy revealed ragged-red fibers. Electron microscopy showed increased numbers of mitochondria with disordered structure and paracrystalline...

journal_title：Neurology

authors： Rivner MH,Shamsnia M,Swift TR,Trefz J,Roesel RA,Carter AL,Yanamura W,Hommes FA

更新日期：1989-05-01 00:00:00

abstract：OBJECTIVE:To determine whether longitudinal cognitive decline is associated with increased risk of sleep disturbance in older, nondemented, community-dwelling women. METHODS:We studied 2,474 women (mean age 68.9 years) who were part of a prospective study started in 1986; women with baseline or follow-up evidence of p...

journal_title：Neurology

authors： Yaffe K,Blackwell T,Barnes DE,Ancoli-Israel S,Stone KL,Study of Osteoporotic Fractures Group.

更新日期：2007-07-17 00:00:00

abstract：OBJECTIVE:To test efficacy and safety of atorvastatin in subjects with clinically isolated syndrome (CIS). METHODS:Subjects with CIS were enrolled in a phase II, double-blind, placebo-controlled, 14-center randomized trial testing 80 mg atorvastatin on clinical and brain MRI activity. Brain MRIs were performed quarter...

journal_title：Neurology

authors： Waubant E,Pelletier D,Mass M,Cohen JA,Kita M,Cross A,Bar-Or A,Vollmer T,Racke M,Stüve O,Schwid S,Goodman A,Kachuck N,Preiningerova J,Weinstock-Guttman B,Calabresi PA,Miller A,Mokhtarani M,Iklé D,Murphy S,Kopetskie

更新日期：2012-04-10 00:00:00

abstract：OBJECTIVE:Migrainous infarction is considered a rare complication of migraine. Although several studies reported silent brain lesions on neuroimaging in patients with migraine with aura, knowledge about lesion patterns in acute migrainous infarction is scarce. We investigated clinical and MRI characteristics in a serie...

journal_title：Neurology

authors： Wolf ME,Szabo K,Griebe M,Förster A,Gass A,Hennerici MG,Kern R

更新日期：2011-05-31 00:00:00

abstract：PURPOSE:To understand the role of the angiopoietin-like 6 gene (ANGPTL6) in intracranial aneurysms (IAs), we investigated its role in a large cohort of familial IAs. METHODS:Individuals with family history of IA were recruited to the Genetic and Observational Subarachnoid Haemorrhage (GOSH) study. The ANGPTL6 gene was...

journal_title：Neurology

authors： Hostettler IC,O'Callaghan B,Bugiardini E,O'Connor E,Vandrovcova J,Davagnanam I,Alg V,Bonner S,Walsh D,Bulters D,Kitchen N,Brown MM,Grieve J,Werring DJ,Houlden H,Genetics and Observational Subarachnoid Haemorrhage (GOSH) Stu

更新日期：2020-10-26 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：:Use of neuroleptic medications is common among elderly patients. Using multivariate models, the authors found that use of antipsychotic medications, age, and disability were strong predictors of developing self-reported Parkinson disease (PD) in the subsequent year among 1992 to 2000 Medicare Current Beneficiary Surve...

journal_title：Neurology

authors： Noyes K,Liu H,Holloway RG

更新日期：2006-03-28 00:00:00

abstract：:A 51-year-old man had a 4-month history of progressive headache and gradual onset of somnolence. MRI suggested spontaneous intracranial hypotension (SIH) with diencephalic compression, but he did not improve after three epidural blood patches. He became alert following intrathecal saline infusion that normalized his C...

journal_title：Neurology

authors： Pleasure SJ,Abosch A,Friedman J,Ko NU,Barbaro N,Dillon W,Fishman RA,Poncelet AN

更新日期：1998-06-01 00:00:00

abstract：BACKGROUND:Elevated serum retinol, CSF retinol, and serum retinol binding protein (RBP) levels have been found in some patients with idiopathic intracranial hypertension (IIH), but serum and CSF retinol levels have not been studied in matched serum and CSF samples in patients with IIH. OBJECTIVE:To determine whether s...

journal_title：Neurology

authors： Tabassi A,Salmasi AH,Jalali M

更新日期：2005-06-14 00:00:00

abstract：BACKGROUND:In polyneuropathy associated with immunoglobulin M (IgM) monoclonal gammopathy, antibodies to myelin-associated glycoprotein (MAG), sulfoglucuronyl paragloboside (SGPG), and sulfatide have been associated with specific clinical and electrophysiologic features. However, it is not known whether the results of ...

journal_title：Neurology

authors： Eurelings M,Moons KG,Notermans NC,Sasker LD,De Jager AE,Wintzen AR,Wokke JH,Van den Berg LH

更新日期：2001-01-23 00:00:00

abstract：:Successful screening for neuropathy in patients with diabetes is available using the 10 g Semmes-Weinstein monofilament (Mid-Delta Health Systems, Inc., Belzoni, MS) (touch/pressure sensation) and the Neurothesiometer (Horwell Scientific, London, UK; vibration perception threshold). In healthy volunteers and patients ...

journal_title：Neurology

authors： Dimitrakoudis D,Bril V

更新日期：2002-08-27 00:00:00

abstract：:Despite a paucity of controlled data, stereotactic pallidotomy is increasingly used for the treatment of advanced Parkinson's disease (PD). To study the efficacy of the procedure on the cardinal PD features of rigidity, tremor, bradykinesia, and postural instability, we blindly rated randomized videos of 34 patients r...

journal_title：Neurology

authors： Ondo WG,Jankovic J,Lai EC,Sankhla C,Khan M,Ben-Arie L,Schwartz K,Grossman RG,Krauss JK

更新日期：1998-01-01 00:00:00

abstract：OBJECTIVE:To examine the relationships between age at onset and duration of seizure disorder with severity of hippocampal sclerosis (HS) and cognitive functioning in patients with HS and unilateral temporal lobe epilepsy. METHODS:Twenty-six subjects had left temporal lobe seizure onset; 20 had right temporal onset. Me...

journal_title：Neurology

authors： Fuerst D,Shah J,Kupsky WJ,Johnson R,Shah A,Hayman-Abello B,Ergh T,Poore Q,Canady A,Watson C

更新日期：2001-07-24 00:00:00

abstract：OBJECTIVE:To estimate rate of progression from normal cognition or mild impairment to dementia, and to identify potential risk and protective factors for incident dementia, based on age at dementia onset in a prospective study of a population-based cohort (n = 1,982) aged 65 years and older. METHODS:Following the coho...

journal_title：Neurology

authors： Ganguli M,Lee CW,Snitz BE,Hughes TF,McDade E,Chang CC

更新日期：2015-01-06 00:00:00

abstract：:We carried out a door-to-door-survey to screen a community of 14,010 people (Parsis living in colonies in Bombay, India) for possible neurologic diseases, and used defined diagnostic criteria to evaluate people who tested positive on the screening survey. There were three clinically definite cases of multiple sclerosi...

journal_title：Neurology

authors： Bharucha NE,Bharucha EP,Wadia NH,Singhal BS,Bharucha AE,Bhise AV,Kurtzke JF,Schoenberg BS

更新日期：1988-05-01 00:00:00

abstract：OBJECTIVE:The aim of the study was to perform a third cognitive assessment in our pediatric-onset multiple sclerosis (MS) patient cohort and determine predictors of the individual cognitive outcome. METHODS:After 4.7 ± 0.7 years from baseline evaluation, 48 of 63 patients in the original cohort were reassessed on an e...

journal_title：Neurology

authors： Amato MP,Goretti B,Ghezzi A,Hakiki B,Niccolai C,Lori S,Moiola L,Falautano M,Viterbo RG,Patti F,Cilia S,Pozzilli C,Bianchi V,Roscio M,Martinelli V,Comi G,Portaccio E,Trojano M,MS Study Group of the Italian Neurological

更新日期：2014-10-14 00:00:00

abstract：:Current concepts suggest that avoidance of pulsatile stimulation of dopamine receptors in Parkinson's disease (PD) can prevent the onset of dyskinesia. In MPTP-treated primates, repeated administration of levodopa or other short-acting dopamine agonist drugs leads to the onset of marked involuntary movements. In contr...

journal_title：Neurology

authors： Jenner P

更新日期：2004-01-13 00:00:00

abstract：BACKGROUND:The Vietnam Head Injury Study (VHIS) is a prospective, longitudinal follow-up of 1,221 Vietnam War veterans with mostly penetrating head injuries (PHIs). The high prevalence (45%-53%) of posttraumatic epilepsy (PTE) in this unique cohort makes it valuable for study. METHODS:A standardized multidisciplinary ...

journal_title：Neurology

authors： Raymont V,Salazar AM,Lipsky R,Goldman D,Tasick G,Grafman J

更新日期：2010-07-20 00:00:00

abstract：:Mammalian spinal neurons grown in tissue culture were used to study the effects of the four convulsants-penicillin, pentylenetetrazol, picrotoxin, and bicuculline-on these neurons' responses to amino acids. Bath application of all four convulsants produced paroxysmal depolarizing events in the neurons; iontophoresis o...

journal_title：Neurology

authors： Macdonald RL,Barker JL

更新日期：1978-04-01 00:00:00

abstract：:Cross-sectional studies have not adequately resolved the question of whether subjects infected with HIV-1 may suffer cognitive decline during the early, asymptomatic stages of the infection. We studied longitudinally 238 asymptomatic healthy HIV-1-infected homosexual/bisexual men (CDC groups 2 and 3) and 170 uninfecte...

journal_title：Neurology

authors： Selnes OA,Miller E,McArthur J,Gordon B,Muñoz A,Sheridan K,Fox R,Saah AJ

更新日期：1990-02-01 00:00:00

abstract：:The effect of bilateral frontal leukotomy on motor function was evaluated by neurologic examination, tests of praxis, and appropriate neuropsychologic tests administered to five groups of subjects. Postleukotomy schizophrenic patients were subdivided into three degrees of recovery. Two nonleukotomized groups served as...

journal_title：Neurology

authors： Benson DF,Stuss DT

更新日期：1982-12-01 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：:Unusual late-onset complications of brain irradiation, characterized by reversible neurologic focal signs, seizures, and MRI alterations, have recently been reported and classified as stroke-like migraine attacks after radiation therapy (SMART)(1) and peri-ictal pseudoprogression (PIPG).(2.) ...

journal_title：Neurology

authors： Di Stefano AL,Berzero G,Vitali P,Galimberti CA,Ducray F,Ceroni M,Bastianello S,Colombo AA,Simoncelli A,Brunelli MC,Giometto B,Diamanti L,Gaviani P,Salmaggi A,Silvani A,Marchioni E

更新日期：2013-09-10 00:00:00

abstract：BACKGROUND AND OBJECTIVE:Collagen abnormalities of skin have been reported among patients with ALS. However, little is known concerning glycosaminoglycans of the skin in ALS. Our objective was to clarify morphologic and biochemical findings of skin glycosaminoglycans among patients with ALS. METHODS:We performed morph...

journal_title：Neurology

authors： Ono S,Imai T,Aso A,Yamano T,Shimizu N,Nagao K

更新日期：1998-08-01 00:00:00

abstract：OBJECTIVE:To verify the previously reported association between long-term use of β2-adrenoreceptor (β2AR) agonist and antagonist with reduced and increased risk of Parkinson disease (PD), respectively. METHODS:We obtained odds ratios (ORs) associating time of β2AR agonist and antagonist use with PD risk in nationwide ...

journal_title：Neurology

authors： Hopfner F,Wod M,Höglinger GU,Blaabjerg M,Rösler TW,Kuhlenbäumer G,Christensen K,Deuschl G,Pottegård A

更新日期：2019-07-09 00:00:00

abstract：:Arm-diaphragm synkinesis may occur after injury to the proximal portion of the brachial plexus or cervical nerve roots. Regenerating axons of phrenic motor neurons are misdirected to supply limb muscles. Electrodiagnostic investigations of three patients with symptoms referable to upper brachial plexus or cervical roo...

journal_title：Neurology

authors： Swift TR,Leshner RT,Gross JA

更新日期：1980-04-01 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：:A 48-year-old man presented with progressive spastic paraparesis and diffuse white matter involvement on neuroimaging that suggested a primary demyelinating disease. Brain biopsy 3 years after onset of symptoms demonstrated idiopathic granulomatous angiitis. In patients with MRI features of diffuse white matter diseas...

journal_title：Neurology

authors： Finelli PF,Onyiuke HC,Uphoff DF

更新日期：1997-12-01 00:00:00

abstract：:We studied the cerebral effects of oxygen-derived free radicals generated from the xanthine oxidase/hypoxanthine/ADP-Fe3+ system. Xanthine oxidase/hypoxanthine/ADP-Fe3+ solution (0.1 ml) was infused into caudate putamen, and brain was frozen rapidly in situ. Brain water and sodium content increased concomitant with de...

journal_title：Neurology

authors： Chan PH,Schmidley JW,Fishman RA,Longar SM

更新日期：1984-03-01 00:00:00