Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.

abstract：:We report an infant with molybdenum cofactor deficiency (MCD) and a unique clinical presentation of hemiplegia, hypotonia, dystonia, and bilateral basal ganglia changes. Biochemistry revealed absent serum homocysteine, low concentrations of plasma cystine, high levels of urinary S-sulfocysteine and sulfite, and high l...

journal_title：Neurology

authors： Graf WD,Oleinik OE,Jack RM,Weiss AH,Johnson JL

更新日期：1998-09-01 00:00:00

abstract：:A 48-year-old woman became totally deaf after a head injury. Magnetic resonance imaging showed bilateral contusions around the inferior colliculi and the brainstem auditory evoked potentials (BAEP) failed to show any abnormality. This case demonstrates that small, symmetrical, bilateral lesions around the inferior col...

journal_title：Neurology

authors： Hu CJ,Chan KY,Lin TJ,Hsiao SH,Chang YM,Sung SM

更新日期：1997-05-01 00:00:00

abstract：:The scanning electronmicroscope was used to study the development of anencephaly in an experimental model. Anencephaly was produced consistently, using vitamin A as the teratogen. Embryos destined to become anencephalic displayed failure of opposing sides of the rostral neural tube to fuse. Subsequently, the neural fo...

journal_title：Neurology

authors： Smith MT,Wood LR,Honig SR

更新日期：1982-09-01 00:00:00

abstract：:Elevated CSF free kappa light chains (FKLCs) may predict disability in multiple sclerosis (MS). We reviewed records of 57 patients with MS with 15-year median follow-up for correlations of disability and CSF FKLCs. Levels > or = 1.53 microg/mL predicted progression to need for ambulatory assistance during follow-up (s...

journal_title：Neurology

authors： Rinker JR 2nd,Trinkaus K,Cross AH

更新日期：2006-10-10 00:00:00

abstract：OBJECTIVE:To investigate whether cognitive function is related to incidence of stroke. METHODS:A population-based cohort of 1551 subjects with no clinical history or signs of stroke, age 75 years and over at baseline, were followed up for 3 years. Individuals with a first-ever stroke event that was recorded in the Sto...

journal_title：Neurology

authors： Zhu L,Fratiglioni L,Guo Z,Winblad B,Viitanen M

更新日期：2000-06-13 00:00:00

abstract：:No uniformly accepted hypothesis explains the genesis and rupture of intracranial aneurysms. We followed 5,184 men and women prospectively for 26 years; 36 cases of aneurysmal subarachnoid hemorrhage (SAH) accounted for 62% of all intracranial hemorrhages. Blood pressure before SAH was higher in these patients than in...

journal_title：Neurology

authors： Sacco RL,Wolf PA,Bharucha NE,Meeks SL,Kannel WB,Charette LJ,McNamara PM,Palmer EP,D'Agostino R

更新日期：1984-07-01 00:00:00

abstract：:We measured the cerebral metabolic rate for glucose (CMRglc) with positron emission tomography and [18F]2-fluoro-2-deoxy-D-glucose in a 47-year-old man with trisomy 21 Down's syndrome (DS) and autopsy-confirmed Alzheimer's disease. Dementia was evident from a confirmed history of cognitive decline, memory loss, and pe...

journal_title：Neurology

authors： Schapiro MB,Ball MJ,Grady CL,Haxby JV,Kaye JA,Rapoport SI

更新日期：1988-06-01 00:00:00

abstract：OBJECTIVE:To test the hypotheses predicted in a hypothetical model of Alzheimer disease (AD) biomarkers that rates of β-amyloid (Aβ) accumulation on PET imaging are not related to hippocampal neurodegeneration whereas rates of neurodegenerative brain atrophy depend on the presence of both amyloid and neurodegeneration ...

journal_title：Neurology

authors： Jack CR Jr,Wiste HJ,Knopman DS,Vemuri P,Mielke MM,Weigand SD,Senjem ML,Gunter JL,Lowe V,Gregg BE,Pankratz VS,Petersen RC

更新日期：2014-05-06 00:00:00

abstract：:We undertook serial clinical and electromyographic muscle action potential (MAP) amplitude assessments in nine patients with the Lambert-Eaton myasthenic syndrome (LEMS) over 0.5 to 2.5 years who received plasma exchange (PE; 5 to 15 exchanges over 4 to 19 days) and immunosuppressive drug (IS) treatment (prednisolone ...

journal_title：Neurology

authors： Newsom-Davis J,Murray NM

更新日期：1984-04-01 00:00:00

abstract：OBJECTIVE:To characterize presenting symptomatology in patients with semantic dementia (SD) and to investigate whether left and right temporal variants of the disease have distinct behavioral and cognitive profiles. METHODS:Retrospective examination of case notes was performed in 47 consecutive referrals of patients w...

journal_title：Neurology

authors： Thompson SA,Patterson K,Hodges JR

更新日期：2003-11-11 00:00:00

abstract：OBJECTIVE:To evaluate urinary neurotrophin receptor p75 extracellular domain (p75ECD) levels as disease progression and prognostic biomarkers in amyotrophic lateral sclerosis (ALS). METHODS:The population in this study comprised 45 healthy controls and 54 people with ALS, 31 of whom were sampled longitudinally. Urinar...

journal_title：Neurology

authors： Shepheard SR,Wuu J,Cardoso M,Wiklendt L,Dinning PG,Chataway T,Schultz D,Benatar M,Rogers ML

更新日期：2017-03-21 00:00:00

abstract：:We examined correlates of depression in patients whose onset of Parkinson's disease (PD) began before age 55 (early-onset group) compared with patients whose onset was after age 55 (late-onset group). The early-onset group showed a significantly higher frequency of depression than the late-onset group. When both group...

journal_title：Neurology

authors： Starkstein SE,Berthier ML,Bolduc PL,Preziosi TJ,Robinson RG

更新日期：1989-11-01 00:00:00

abstract：:A patient received an overdose of intravascular contrast medium and experienced protracted seizures associated with radiographic evidence of prolonged retention of the contrast agent in the cerebral cortex, basal ganglia, and thalami. This is only the second report and the first survivor of a similar neurologic syndro...

journal_title：Neurology

authors： May EF,Ling GS,Geyer CA,Jabbari B

更新日期：1993-04-01 00:00:00

abstract：OBJECTIVE:To evaluate whether subthalamic nucleus (STN) stimulation has an effect on the orthostatic regulation of patients with Parkinson disease (PD), we studied cardiovascular regulation during on and off phases of STN stimulation. METHODS:We examined 14 patients with PD (mean age 58.1 +/- 5.8 years, 4 women, 10 me...

journal_title：Neurology

authors： Stemper B,Beric A,Welsch G,Haendl T,Sterio D,Hilz MJ

更新日期：2006-11-28 00:00:00

abstract：:A two-octapeptide repeat deletion of the prion protein gene has been recently observed in a patient with a 2-year history of dementia and a clinical diagnosis of possible Creutzfeldt-Jakob disease (CJD). The authors report a similar deletion in a patient with a definitive diagnosis of CJD. Since the two-repeat deletio...

journal_title：Neurology

authors： Capellari S,Parchi P,Wolff BD,Campbell J,Atkinson R,Posey DM,Petersen RB,Gambetti P

更新日期：2002-11-26 00:00:00

abstract：OBJECTIVE:To preliminarily assess the safety and efficacy of transdermal nicotine therapy on cognitive performance and clinical status in subjects with mild cognitive impairment (MCI). METHODS:Nonsmoking subjects with amnestic MCI were randomized to transdermal nicotine (15 mg per day or placebo) for 6 months. Primary...

journal_title：Neurology

authors： Newhouse P,Kellar K,Aisen P,White H,Wesnes K,Coderre E,Pfaff A,Wilkins H,Howard D,Levin ED

更新日期：2012-01-10 00:00:00

abstract：:We report cerebral vasculitis in 2 cocaine users who developed symptoms (transient blindness and persistent headache) while smoking "crack," followed by progressive widespread cerebral dysfunction with focal signs over the next few weeks. One patient had smoked crack exclusively, and the other also used cocaine intrav...

journal_title：Neurology

authors： Krendel DA,Ditter SM,Frankel MR,Ross WK

更新日期：1990-07-01 00:00:00

abstract：OBJECTIVE:To investigate residual function of the motor cortex corresponding to the hand of the amputated arm (MCamp). METHODS:Focal transcranial magnetic stimulation (TMS) of MCamp was performed in 10 patients 22 to 52 years after arm amputation to inhibit tonic muscle contraction in the intact hand ipsilateral to co...

journal_title：Neurology

authors： Röricht S,Meyer BU

更新日期：2000-02-22 00:00:00

abstract：OBJECTIVE:To evaluate the utility of "clinic room" case presentation in the ambulatory care setting. BACKGROUND:Neurology is increasingly an outpatient specialty. The transition from ward to clinic presents challenges for student and resident education. Interaction between attending physician and trainee is limited by...

journal_title：Neurology

authors： Smith AG,Bromberg MB,Singleton JR,Forshew DA

更新日期：1999-01-15 00:00:00

abstract：:A marked decrease in the amplitude of the evoked thenar compound muscle action potential followed brief exercise at room temperature in two patients with paramyotonia congenita. This decline was more rapid and pronounced in our patient with coexistent thyrotoxicosis. The prolonged recovery period in paramyotonia conge...

journal_title：Neurology

authors： Gutmann L,Riggs JE,Brick JF

更新日期：1986-01-01 00:00:00

abstract：BACKGROUND:After 1 to 4 years, seizure-free children with epilepsy are encouraged to stop daily antiepileptic drug (AED) treatment. Approximately 70% are successful. The authors examined how often intractable epilepsy follows discontinuation of AED treatment in a population-based cohort of children with epilepsy. METH...

journal_title：Neurology

authors： Camfield P,Camfield C

更新日期：2005-03-22 00:00:00

abstract：:Both mevalonic aciduria, characterized by psychomotor retardation, cerebellar ataxia, recurrent fever attacks, and death in early childhood, and hyper-immunoglobulin D (hyper-IgD) syndrome, with recurrent fever attacks without neurologic symptoms, are caused by a functional deficiency of mevalonate kinase. In a system...

journal_title：Neurology

authors： Simon A,Kremer HP,Wevers RA,Scheffer H,De Jong JG,Van Der Meer JW,Drenth JP

更新日期：2004-03-23 00:00:00

abstract：OBJECTIVE:To analyze the frequency of neurologic events during commercial airline flights and to assess whether onboard emergency medical kits are adequate for in-flight neurologic emergencies. METHODS:Collaboration of the Mayo Clinic's Departments of Emergency Medicine and Medical Transportation Service and the Divis...

journal_title：Neurology

authors： Sirven JI,Claypool DW,Sahs KL,Wingerchuk DM,Bortz JJ,Drazkowski J,Caselli R,Zanick D

更新日期：2002-06-25 00:00:00

abstract：:We have used computerized tomography (CT) to look for evidence of cerebral demyelination in children with progressive neurologic disorders. Fourteen patients with a clinical diagnosis of a demyelinating disorder were examined by CT, and five had CT findings suggesting cerebral demyelination. In two patients with a so-...

journal_title：Neurology

authors： Robertson WC Jr,Gomez MR,Reese DF,Okazaki H

更新日期：1977-09-01 00:00:00

abstract：:Machado-Joseph disease is a dominantly inherited, multisystem, degenerative disorder that lacks a proven genetic marker. Peripheral nerve conduction-refractory period, sensory evoked potentials, and quantified oculomotor recordings were studied in nine patients affected with this disease to look for a potential physio...

journal_title：Neurology

authors： Hotson JR,Langston EB,Louis AA,Rosenberg RN

更新日期：1987-01-01 00:00:00

abstract：OBJECTIVE:To study the efficacy and safety of low-dose oral tetrahydrocannabinol (THC) in the treatment of dementia-related neuropsychiatric symptoms (NPS). METHODS:This is a randomized, double-blind, placebo-controlled study. Patients with dementia and clinically relevant NPS were randomly assigned to receive THC 1.5...

journal_title：Neurology

authors： van den Elsen GA,Ahmed AI,Verkes RJ,Kramers C,Feuth T,Rosenberg PB,van der Marck MA,Olde Rikkert MG

更新日期：2015-06-09 00:00:00

abstract：BACKGROUND:On proton magnetic resonance spectroscopic imaging ((1)H MRSI), there is a decrease in cerebellar N-acetylaspartate/total creatine (NAA/tCr) in essential tremor (ET), signifying cerebellar neuronal dysfunction or degeneration. Harmane, which is present in the human diet, is a potent tremor-producing neurotox...

journal_title：Neurology

authors： Louis ED,Zheng W,Mao X,Shungu DC

更新日期：2007-08-07 00:00:00

abstract：:Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening ...

journal_title：Neurology

authors： Burke G,Cossins J,Maxwell S,Owens G,Vincent A,Robb S,Nicolle M,Hilton-Jones D,Newsom-Davis J,Palace J,Beeson D

更新日期：2003-09-23 00:00:00

abstract：:Cisplatin, used to treat ovarian, bladder, and testicular cancers, causes a sensory dose-limiting neuropathy. Preliminary observations in humans and animals suggest that nerve damage may be prevented by ACTH analogs, particularly those belonging to the melanocortin class, and by nerve growth factor (NGF). We establish...

journal_title：Neurology

authors： Windebank AJ,Smith AG,Russell JW

更新日期：1994-03-01 00:00:00

abstract：BACKGROUND:New immigrants to North America, most of whom are under age 50 years, exhibit fewer risk factors for cardiovascular disease than their native-born counterparts, yet the stress of resettlement may conceivably place them at higher risk of stroke. We determined the risk of acute stroke associated with recency o...

journal_title：Neurology

authors： Saposnik G,Redelmeier DA,Lu H,Lonn E,Fuller-Thomson E,Ray JG

更新日期：2010-02-09 00:00:00