Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

abstract：OBJECTIVE:The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC). METHODS:A total of 103 patients with TSC were evaluated for A...

journal_title：Neurology

authors： Numis AL,Major P,Montenegro MA,Muzykewicz DA,Pulsifer MB,Thiele EA

更新日期：2011-03-15 00:00:00

abstract：:We reviewed the records of all patients with optic neuritis (ON) in Olmsted County, Minnesota, identified through the comprehensive records-linkage system at the Mayo Clinic, and identified 156 ON patients from 1935 to 1991 who had onset of the disease while residing in Olmsted County (incidence cases). Poisson regres...

journal_title：Neurology

authors： Rodriguez M,Siva A,Cross SA,O'Brien PC,Kurland LT

更新日期：1995-02-01 00:00:00

abstract：:We performed a retrospective study on a series of 119 of our patients who have Friedreich's disease to assess the predictive value of age at onset, gender, and left ventricular hypertrophy in regard to disease progression. Outcome variables were survival, time to loss of independent gait, and time to confinement in a ...

journal_title：Neurology

authors： De Michele G,Perrone F,Filla A,Mirante E,Giordano M,De Placido S,Campanella G

更新日期：1996-11-01 00:00:00

abstract：:Mammalian spinal cord neurons were grown in dissociated cell culture and used to study the effects of the anticonvulsant barbiturates phenobarbital and mephobarbital, and the anesthetic barbiturates pentobarbital, secobarbital, and 1,3-dimethyl-butylethyl barbituric acid on amino acid responses and neuronal membrane p...

journal_title：Neurology

authors： Macdonald RL,Barker JL

更新日期：1979-04-01 00:00:00

abstract：OBJECTIVE:Brain atrophy is common in subcortical ischemic vascular disease, but the underlying mechanisms are poorly understood. We set out to examine the effects of incident subcortical infarcts on cortical morphology. METHODS:A total of 276 subjects with cerebral autosomal dominant arteriopathy with subcortical infa...

journal_title：Neurology

authors： Duering M,Righart R,Csanadi E,Jouvent E,Hervé D,Chabriat H,Dichgans M

更新日期：2012-11-13 00:00:00

abstract：:There are multiple difficulties in evaluating new treatments for multiple sclerosis (MS). The clinical diagnosis is imprecise, and the correlation between lesion and clinical dysfunction is incomplete. The neurologic evaluation is complex and lacks full precision. The course of MS is complex and has limited predictabi...

journal_title：Neurology

authors： Brown JR

更新日期：1980-07-01 00:00:00

abstract：:Although people with migraine are aware of their headaches they are often not aware that they have migraine. This can lead to inappropriate or ineffective use of treatments, delays in seeking appropriate care, and miscommunication during clinical encounters. This article assesses self-recognition of migraine and ident...

journal_title：Neurology

authors： Lipton RB,Stewart WF,Liberman JN

更新日期：2002-05-14 00:00:00

abstract：OBJECTIVE:To examine the relationship between the degree of handedness and hemispheric language dominance in patients with epilepsy. METHODS:The authors examined the relationship between degree of handedness and hemispheric language dominance in 174 epilepsy surgery candidates using the intracarotid amobarbital proced...

journal_title：Neurology

authors： Isaacs KL,Barr WB,Nelson PK,Devinsky O

更新日期：2006-06-27 00:00:00

abstract：OBJECTIVE:To characterize disease severity and distribution of disability in pediatric-onset multiple sclerosis (POMS) and to develop an optimized modeling scale for measuring disability, we performed a multicenter retrospective analysis of disability scores in 873 persons with POMS over time and compared this to previ...

journal_title：Neurology

authors： Santoro JD,Waltz M,Aaen G,Belman A,Benson L,Gorman M,Goyal MS,Graves JS,Harris Y,Krupp L,Lotze T,Mar S,Moodley M,Ness J,Rensel M,Rodriguez M,Schreiner T,Tillema JM,Waubant E,Weinstock-Guttman B,Hurtubise BF,Roal

更新日期：2020-09-29 00:00:00

abstract：:The clinical and electroencephalographic (EEG) effects of sodium valproate were studied in four patients by means of serial 24-hour EEG recordings and simultaneous hourly determinations of serum drug concentrations. The patients all had frequent clinical seizures and generalized spike-wave discharges. Valproate appear...

journal_title：Neurology

authors： Rowan AJ,Binnie CD,de Beer-Pawlikowski NK,Goedhart DM,Gutter T,van der Geest P,Meinardi H,Meijer JW

更新日期：1979-11-01 00:00:00

abstract：:The P3 component of the auditory evoked potential has been shown to reflect "endogenous" processes related to cognition. This component was measured serially in seven patients who had confusional states or dementing illnesses that fluctuated in severity over time. The latency of P3 component reflected the clinical imp...

journal_title：Neurology

authors： Goodin DS,Starr A,Chippendale T,Squires KC

更新日期：1983-09-01 00:00:00

abstract：OBJECTIVE:To describe the clinical features, neuropathology, and genetic studies in a family with autosomal dominant frontotemporal dementia (FTD). BACKGROUND:Clinical Pick's disease, or FTD with parkinsonism, has been described in several families linked to chromosome 17 (FTDP-17). Most of these have shown tau protei...

journal_title：Neurology

authors： Kertesz A,Kawarai T,Rogaeva E,St George-Hyslop P,Poorkaj P,Bird TD,Munoz DG

更新日期：2000-02-22 00:00:00

abstract：:In muscles with sustained voluntary contraction, EMG activity is transiently inhibited after transcranial magnetic stimulation. We recorded this postexcitatory silent period (SP) at 1.5 times individual stimulus threshold level from the first dorsal interosseus muscle in 65 neurologic patients aged 11 to 80 years. Whe...

journal_title：Neurology

authors： Haug BA,Kukowski B

更新日期：1994-05-01 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：OBJECTIVE:To use a historical placebo control design to determine whether lithium carbonate slows progression of amyotrophic lateral sclerosis (ALS). METHODS:A phase II trial was conducted at 10 sites in the Western ALS Study Group using similar dosages (300-450 mg/day), target blood levels (0.3-0.8 mEq/L), outcome me...

journal_title：Neurology

authors： Miller RG,Moore DH,Forshew DA,Katz JS,Barohn RJ,Valan M,Bromberg MB,Goslin KL,Graves MC,McCluskey LF,McVey AL,Mozaffar T,Florence JM,Pestronk A,Ross M,Simpson EP,Appel SH,WALS Study Group.

更新日期：2011-09-06 00:00:00

abstract：OBJECTIVE:To evaluate the occurrence, treatment, and outcome of subdural empyema complicating community-acquired bacterial meningitis in adults. METHODS:Case series from a prospective nationwide cohort study from Dutch hospitals from 2006 to 2011. RESULTS:Subdural empyema was diagnosed in 28 of 1,034 episodes (2.7%),...

journal_title：Neurology

authors： Jim KK,Brouwer MC,van der Ende A,van de Beek D

更新日期：2012-11-20 00:00:00

abstract：:INeuro@neurolist.mcg. edu: An e-mail discussion list for neurologists Neuro@neurolist.mcg.edu (Neurolist) is a discussion list for neurologists. This Internet tool, established in 1994, allows the worldwide community of neurologists to communicate quickly and efficiently using e-mail, web browsers, and newsreaders. Ne...

journal_title：Neurology

authors： Rivner MH

更新日期：1999-06-10 00:00:00

abstract：BACKGROUND:Metals are suspected of being involved in the pathogenesis of various neurologic diseases. We previously found a complex imbalance in serum chemical elements and oxidative status in patients with clinically definite multiple sclerosis (CDMS). OBJECTIVE:To understand whether this imbalance affects people wit...

journal_title：Neurology

authors： Ristori G,Brescianini S,Pino A,Visconti A,Vittori D,Coarelli G,Cotichini R,Bocca B,Forte G,Pozzilli C,Pestalozza I,Stazi MA,Alimonti A,Salvetti M

更新日期：2011-02-08 00:00:00

abstract：OBJECTIVE:To investigate whether quantitative MR techniques can be used to distinguish between mesial temporal sclerosis in patients with a history of prolonged febrile convulsion and in patients without such a history. METHODS:Quantitative hippocampal T2 relaxometry, hippocampal volumetry, and single voxel (1)H-MRS d...

journal_title：Neurology

authors： Scott RC,Gadian DG,Cross JH,Wood SJ,Neville BG,Connelly A

更新日期：2001-06-26 00:00:00

abstract：OBJECTIVE:To study the effect of pregnancy on the frequency of neuromyelitis optica spectrum disorder (NMOSD) relapse and evaluate rates of pregnancy-related complications in an international multicenter setting. METHODS:We administered a standardized survey to 217 women with NMOSD from 7 medical centers and reviewed ...

journal_title：Neurology

authors： Klawiter EC,Bove R,Elsone L,Alvarez E,Borisow N,Cortez M,Mateen F,Mealy MA,Sorum J,Mutch K,Tobyne SM,Ruprecht K,Buckle G,Levy M,Wingerchuk D,Paul F,Cross AH,Jacobs A,Chitnis T,Weinshenker B

更新日期：2017-11-28 00:00:00

abstract：:This double-blind, placebo-controlled, crossover study of the acute treatment of migraine investigated the efficacy and tolerability of oral sumatriptan 100 mg (Imitrex) administered for up to nine attacks compared with placebo administered for up to three attacks. Patients were randomized to receive oral sumatriptan ...

journal_title：Neurology

authors： Rederich G,Rapoport A,Cutler N,Hazelrigg R,Jamerson B

更新日期：1995-08-01 00:00:00

abstract：OBJECTIVE:To determine whether correlates of white matter integrity can provide general as well as specific insight into the chronic effects of head injury coupled with depression symptom expression in professional football players. METHOD:We studied 26 retired National Football League (NFL) athletes who underwent dif...

journal_title：Neurology

authors： Strain J,Didehbani N,Cullum CM,Mansinghani S,Conover H,Kraut MA,Hart J Jr,Womack KB

更新日期：2013-07-02 00:00:00

abstract：:Intracranial hypertension in the absence of an intracranial mass lesion or hydrocephalus can be caused by an alteration of one or more of the four determinants of cerebrospinal fluid (CSF) pressure: (1) intrasagittal sinus pressure, (2) resistance of arachnoid villi to the egress of CSF, (3) rate of production of CSF,...

journal_title：Neurology

authors： Donaldson JO

更新日期：1981-07-01 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：OBJECTIVES:To examine associations between 1H magnetic resonance spectroscopic imaging (1H MRSI)-detected hippocampal creatine to N-acetylaspartate (Cr/NAA) ratios and neuropsychological measures sensitive to mesial temporal lobe function. BACKGROUND:The measurement of 1H MRSI-detected hippocampal metabolites has prov...

journal_title：Neurology

authors： Martin RC,Sawrie S,Hugg J,Gilliam F,Faught E,Kuzniecky R

更新日期：1999-12-10 00:00:00

abstract：OBJECTIVE:To study the association of PD with preceding smoking, alcohol, and coffee consumption using a case-control design. METHODS:The authors used the medical records linkage system of the Rochester Epidemiology Project to identify 196 subjects who developed PD in Olmsted County, MN, during the years 1976 to 1995....

journal_title：Neurology

authors： Benedetti MD,Bower JH,Maraganore DM,McDonnell SK,Peterson BJ,Ahlskog JE,Schaid DJ,Rocca WA

更新日期：2000-11-14 00:00:00

abstract：:We measured plasma norepinephrine levels in patients with familial amyloid polyneuropathy. Patients with orthostatic hypotension had low basal plasma norepinephrine levels, which did not increase after postural change. On the basis of biochemical findings that suggest depletion of peripheral norepinephrine, DL-threo-3...

journal_title：Neurology

authors： Suzuki T,Higa S,Sakoda S,Hayashi A,Yamamura Y,Takaba Y,Nakajima A

更新日期：1981-10-01 00:00:00

abstract：:Loading doses of 15 to 20 mg per kilogram of both phenobarbital and phenytoin, administered intravenously, are necessary in the newborn to achieve rapid therapeutic plasma anticonvulsant levels. Maintenance doses of 3 to 4 mg per kilogram of both agents will maintain therapeutic levels. Phenytoin is, however, not pred...

journal_title：Neurology

authors： Painter MJ,Pippenger C,Wasterlain C,Barmada M,Pitlick W,Carter G,Abern S

更新日期：1981-09-01 00:00:00

abstract：:Using the centralized diagnostic data resource for the population of Rochester, Minnesota, we determined the prevalence of medically diagnosed dementia for this community. There were 289 individuals with dementia who were residing in Rochester on January 1, 1975: 208 women and 81 men. The overall age- and sex-adjusted...

journal_title：Neurology

authors： Kokmen E,Beard CM,Offord KP,Kurland LT

更新日期：1989-06-01 00:00:00

abstract：:Of 101 patients with benign intracranial hypertension not related to vasculitis, neck stiffness occurred in 31, tinnitus in 27, distal extremity paresthesias in 22, joint pains in 13, low back pain in 5, and gait "ataxia" in 4. Symptoms resolved promptly upon lowering the intracranial pressure by lumbar puncture, and ...

journal_title：Neurology

authors： Round R,Keane JR

更新日期：1988-09-01 00:00:00