Prion protein codon 129 polymorphism and risk of Alzheimer disease.

abstract：:Genetic factors clearly cause Lewy-body Parkinson's disease (PD) in a subset of autosomal-dominant families. However, most cases of PD are sporadic. The two most likely models of four discussed for sporadic PD are the reduced penetrance model and the multifactorial model. Sporadic PD is likely to be caused by the comb...

journal_title：Neurology

authors： Johnson WG

更新日期：1991-05-01 00:00:00

abstract：:Ninety-seven chronic alcoholics, both impaired and unimpaired, without clinically evident liver disease, showed significantly more cerebral atrophy on computed tomography than age-matched neurologic controls. Age was the variable most highly correlated with cerebral atrophy measurements, and it accounted for most of t...

journal_title：Neurology

authors： Carlen PL,Wilkinson DA,Wortzman G,Holgate R,Cordingley J,Lee MA,Huszar L,Moddel G,Singh R,Kiraly L,Rankin JG

更新日期：1981-04-01 00:00:00

abstract：OBJECTIVE:To investigate the risk factors of neutralizing antibody (NAB)-induced complete secondary treatment failure (cSTF) during long-term botulinum neurotoxin (BoNT) treatment in various neurologic indications. METHODS:This monocenter retrospective cohort study analyzed the data of 471 patients started on BoNT the...

journal_title：Neurology

authors： Walter U,Mühlenhoff C,Benecke R,Dressler D,Mix E,Alt J,Wittstock M,Dudesek A,Storch A,Kamm C

更新日期：2020-05-19 00:00:00

abstract：OBJECTIVES:While plasma biomarkers have been proposed to aid in the clinical diagnosis of Alzheimer disease (AD), few biomarkers have been validated in independent patient cohorts. Here we aim to determine plasma biomarkers associated with AD in 2 independent cohorts and validate the findings in the multicenter Alzheim...

journal_title：Neurology

authors： Hu WT,Holtzman DM,Fagan AM,Shaw LM,Perrin R,Arnold SE,Grossman M,Xiong C,Craig-Schapiro R,Clark CM,Pickering E,Kuhn M,Chen Y,Van Deerlin VM,McCluskey L,Elman L,Karlawish J,Chen-Plotkin A,Hurtig HI,Siderowf A,Swens

更新日期：2012-08-28 00:00:00

abstract：:A 71-year-old man developed severe limb, bulbar, and respiratory weakness over 18 months. A muscle biopsy showed only a moderate degree of type 2 atrophy, but immunocytochemistry showed absence of chondroitin sulfate C glycosaminoglycan in the endomysium. Prednisone produced a marked increase in strength. Diffuse loss...

journal_title：Neurology

authors： al-Lozi MT,Hemelt VB,Pestronk A

更新日期：1998-02-01 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：:Dementia occurs infrequently in patients with giant cell (temporal) arteritis (GCA). Three elderly women with biopsy-proven GCA showed abrupt cognitive decline during periods of clinically active GCA, 1 to 6 months after diagnostic temporal artery biopsy, during periods of corticosteroid taper. One patient had additio...

journal_title：Neurology

authors： Caselli RJ

更新日期：1990-05-01 00:00:00

abstract：:Ullrich disease is a form of congenital muscular dystrophy characterized clinically by generalized muscle weakness, contractures of the proximal joints, and hyperflexibility of the distal joints from birth or early infancy. Recently, mutations of the collagen VI gene have been associated with Ullrich disease. The auth...

journal_title：Neurology

authors： Ishikawa H,Sugie K,Murayama K,Ito M,Minami N,Nishino I,Nonaka I

更新日期：2002-09-24 00:00:00

abstract：OBJECTIVE:To review clinical and electrodiagnostic features of the medial brachial fascial compartment syndrome, a complication of percutaneous axillary vessel puncture. METHODS:The authors reviewed electrodiagnostic examinations over a 20-year period. RESULTS:This syndrome presents with weakness, pain, and numbness ...

journal_title：Neurology

authors： Tsao BE,Wilbourn AJ

更新日期：2003-10-28 00:00:00

abstract：OBJECTIVE:To test the hypothesis that concussion-related brain alterations seen at symptomatic injury and medical clearance to return to play (RTP) will have dissipated by 1 year after RTP. METHODS:For this observational study, 24 athletes with concussion were scanned longitudinally within 1 week after injury, at RTP,...

journal_title：Neurology

authors： Churchill NW,Hutchison MG,Graham SJ,Schweizer TA

更新日期：2019-11-19 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：:Described are the clinical, EEG, MR, and genetic characteristics of 106 members of a family with autosomal dominant temporal lobe epilepsy (TLE) and febrile seizures (FS), with 22 affected individuals. Eleven patients had a history of FS, and 10 patients had TLE. EEG showed epileptic activity in five. None had hippoca...

journal_title：Neurology

authors： Depondt C,Van Paesschen W,Matthijs G,Legius E,Martens K,Demaerel P,Wilms G

更新日期：2002-05-14 00:00:00

abstract：:Patients, clinicians, and hospitals have undergone monumental changes during the coronavirus disease 2019 (COVID-19) pandemic. This crisis has forced us to consider the obligations that we neurologists have to our individual patients as well as the greater community. By returning to our fundamental understanding of th...

journal_title：Neurology

authors： Rubin MA,Bonnie RJ,Epstein L,Hemphill C,Kirschen M,Lewis A,Suarez JI,Ethics, Law, and Humanities Committee, a joint committee of the American Academy of Neurology, American Neurological Association, and Child Neurology Society; in collabor

更新日期：2020-07-28 00:00:00

abstract：OBJECTIVE:To examine whether late-life exposure to PM2.5 (particulate matter with aerodynamic diameters <2.5-µm) contributes to progressive brain atrophy predictive of Alzheimer's disease (AD) using a community-dwelling cohort of women (aged 70-89) with up to two brain MRI scans (MRI-1: 2005-6; MRI-2: 2010-11). METHOD...

journal_title：Neurology

authors： Younan D,Wang X,Casanova R,Barnard R,Gaussoin SA,Saldana S,Petkus AJ,Beavers DP,Resnick SM,Manson JE,Serre ML,Vizuete W,Henderson VW,Sachs BC,Salinas JA,Gatz M,Espeland MA,Chui HC,Shumaker SA,Rapp SR,Chen JC,Wom

更新日期：2020-11-18 00:00:00

abstract：:A 11-year-old boy of short stature had recurrent right temporal pounding headaches of 7 months' duration, and progressive visual loss for 3 days. There was a left hemianopia, alexia without agraphia, and diffuse muscle weakness. Investigation established the presence of a mitochondrial myopathy with pyruvate and lacti...

journal_title：Neurology

authors： Skoglund RR

更新日期：1979-05-01 00:00:00

abstract：:We studied six patients with the clinical, sonographic, CT, and biochemical profile of minimal euthyroid Graves' disease (MEGD). This syndrome was characterized clinically by small but obtrusive and measurable amounts of diplopia related to endocrine ophthalmopathy and the conspicuous absence of systemic or laboratory...

journal_title：Neurology

authors： Spector RH,Carlisle JA

更新日期：1987-11-01 00:00:00

abstract：:Isovaleric acidemia (IVA) is an inborn error of leucine metabolism, resulting in an accumulation of isovaleric acid in the body fluids. The neuropathologic findings in an 11-day-old infant with IVA consisted of diffuse cerebral edema, massive cerebellar hemorrhage, upward transtentorial herniation, and focal degenerat...

journal_title：Neurology

authors： Fischer AQ,Challa VR,Burton BK,McLean WT

更新日期：1981-06-01 00:00:00

abstract：:In patients with cranial dystonia, we compared the effects of central anticholinergic, peripheral anticholinergic, and placebo treatments in a double-blind crossover study. One of the nine patients who completed the study improved markedly with central anticholinergic therapy. The three treatments were indistinguishab...

journal_title：Neurology

authors： Nutt JG,Hammerstad JP,deGarmo P,Carter J

更新日期：1984-02-01 00:00:00

abstract：:In a series of 44 consecutive patients with Charcot-Marie-Tooth disease (CMT), we found restless legs syndrome (RLS) in 10 of 27 CMT type 2 (CMT2) patients (37%) and in none of 17 CMT type 1 patients (p = 0.004). In the CMT2 patients, RLS was associated with positive sensory symptoms (10/10 versus 10/17; p = 0.026). T...

journal_title：Neurology

authors： Gemignani F,Marbini A,Di Giovanni G,Salih S,Terzano MG

更新日期：1999-03-23 00:00:00

abstract：OBJECTIVE:The human GABAAγ2(R43Q) mutation is associated with genetic epilepsy. Because of the role of γ-aminobutyric acid (GABA) in brain development, we asked whether this epilepsy mutation might affect excitability by changing cortical cytoarchitecture. METHODS:We used a mouse model harboring a heterozygous R43Q mi...

journal_title：Neurology

authors： Wimmer VC,Li MY,Berkovic SF,Petrou S

更新日期：2015-03-31 00:00:00

abstract：OBJECTIVE:To reassess the evidence for management issues related to the care of women with epilepsy (WWE) during pregnancy, including preconceptional folic acid use, prenatal vitamin K use, risk of hemorrhagic disease of the newborn, clinical implications of placental and breast milk transfer of antiepileptic drugs (AE...

journal_title：Neurology

authors： Harden CL,Pennell PB,Koppel BS,Hovinga CA,Gidal B,Meador KJ,Hopp J,Ting TY,Hauser WA,Thurman D,Kaplan PW,Robinson JN,French JA,Wiebe S,Wilner AN,Vazquez B,Holmes L,Krumholz A,Finnell R,Shafer PO,Le Guen C,Americ

更新日期：2009-07-14 00:00:00

abstract：:We studied the effect of deep brain stimulation (DBS) of the ventral intermediate thalamic nucleus on voice symptoms in seven patients with essential tremor. All had undergone DBS for management of hand tremor. Five of the patients had received unilateral implants; two were treated bilaterally. Each reported improveme...

journal_title：Neurology

authors： Carpenter MA,Pahwa R,Miyawaki KL,Wilkinson SB,Searl JP,Koller WC

更新日期：1998-03-01 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：BACKGROUND:The probability of hearing loss during cerebellopontine angle (CPA) surgery can be reduced by using brainstem auditory evoked potential (BAEP) intraoperative monitoring (IOM). A wave V latency prolongation of 1.0 milliseconds or amplitude decrement of greater than 50% is arbitrarily considered the point when...

journal_title：Neurology

authors： James ML,Husain AM

更新日期：2005-11-22 00:00:00

abstract：:The authors report two patients with suspected brain death who required confirmatory tests other than clinical examination because of prolonged barbiturate administration for intracranial hypertension. Absence of intracranial blood flow was documented on CT angiography and confirmed by CT perfusion images. Cerebral an...

journal_title：Neurology

authors： Qureshi AI,Kirmani JF,Xavier AR,Siddiqui AM

更新日期：2004-02-24 00:00:00

abstract：:Seven patients had pendular, vertical, isolated movements of the eyes soon after severe pontine strokes. The movements had a frequency of about 2 Hz and amplitudes of 3 to 40 degrees. Other rhythmic body movements at similar frequencies occurred in four patients after a delay of 6 weeks to 9 months. The character and ...

journal_title：Neurology

authors： Keane JR

更新日期：1986-01-01 00:00:00

abstract：BACKGROUND:Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with mutations in six genes encoding proven or putative glycosyltransferases. OBJECTIVES:The aim of the study was to establish the prevalence of mutations in t...

journal_title：Neurology

authors： Mercuri E,Messina S,Bruno C,Mora M,Pegoraro E,Comi GP,D'Amico A,Aiello C,Biancheri R,Berardinelli A,Boffi P,Cassandrini D,Laverda A,Moggio M,Morandi L,Moroni I,Pane M,Pezzani R,Pichiecchio A,Pini A,Minetti C,Mon

更新日期：2009-05-26 00:00:00

abstract：:We tested the effect of bovine cortex phosphatidylserine (BC-PS), a membrane phospholipid known to inhibit the release of the cytokine tumor necrosis factor (TNF), in SJL/J mice sensitized for adoptively transferred experimental autoimmune encephalomyelitis (EAE). Control, sensitized mice developed severe clinical and...

journal_title：Neurology

authors： Monastra G,Cross AH,Bruni A,Raine CS

更新日期：1993-01-01 00:00:00

abstract：OBJECTIVE:SCN8A encodes the sodium channel voltage-gated α8-subunit (Nav1.6). SCN8A mutations have recently been associated with epilepsy and neurodevelopmental disorders. We aimed to delineate the phenotype associated with SCN8A mutations. METHODS:We used high-throughput sequence analysis of the SCN8A gene in 683 pat...

journal_title：Neurology

authors： Larsen J,Carvill GL,Gardella E,Kluger G,Schmiedel G,Barisic N,Depienne C,Brilstra E,Mang Y,Nielsen JE,Kirkpatrick M,Goudie D,Goldman R,Jähn JA,Jepsen B,Gill D,Döcker M,Biskup S,McMahon JM,Koeleman B,Harris M,Bra

更新日期：2015-02-03 00:00:00

abstract：:The presence of an APOE epsilon4 allele may be a risk factor for neuropathy severity in diabetes. The authors assessed the frequency of APOE epsilon4 in patients presenting with sensory predominant neuropathy. APOE epsilon4 frequency among patients with early diabetic neuropathy and impaired glucose tolerance-associat...

journal_title：Neurology

authors： Zhou Z,Hoke A,Cornblath DR,Griffin JW,Polydefkis M

更新日期：2005-01-11 00:00:00