PREPL deficiency with or without cystinuria causes a novel myasthenic syndrome.

abstract：:The electronic medical record (EMR) is changing the landscape of medical practice in the modern age. Increasing emphasis on quality metric reporting, data-driven documentation, and timely coding and billing are pressuring institutions across the country to adopt the latest EMR technology. The impact of these systems o...

journal_title：Neurology

authors： Strowd RE 3rd

更新日期：2014-09-23 00:00:00

abstract：:Men and women with dementia of the Alzheimer type (DAT) had more brain atrophy and ventricular dilatation, measured by quantitative CT, than did respective age- and sex-matched healthy controls (p less than 0.05). The male DAT patients with mild dementia had a larger mean third ventricle volume, whereas male patients ...

journal_title：Neurology

authors： Creasey H,Schwartz M,Frederickson H,Haxby JV,Rapoport SI

更新日期：1986-12-01 00:00:00

abstract：:We report a Jewish family of Yemenite origin in which three brothers born from a consanguineous marriage had juvenile parkinsonism. The DNA samples from three affected brothers and one healthy brother were analyzed for the linkage to markers covering the autosomal-recessive juvenile parkinsonism (AR-JP) locus. A perfe...

journal_title：Neurology

authors： Nisipeanu P,Inzelberg R,Blumen SC,Carasso RL,Hattori N,Matsumine H,Mizuno Y

更新日期：1999-10-22 00:00:00

abstract：OBJECTIVE:To test the accuracy of an equation in adult patients with status epilepticus that calculates the free concentration of serum valproic acid (fVPA) from the total concentration of serum valproic acid (tVPA) and serum albumin. METHODS:All adult patients with status epilepticus who were treated at a Swiss acade...

journal_title：Neurology

authors： Fisch U,Baumann SM,Semmlack S,Marsch S,Rüegg S,Sutter R

更新日期：2021-01-05 00:00:00

abstract：BACKGROUND:In a previous study, the authors found that the risk of AD among mothers who were 35 years or younger when their children with Down syndrome (DS) were born was five times that of mothers of children with other forms of mental retardation. The current study investigated the specificity of the familial aggrega...

journal_title：Neurology

authors： Schupf N,Kapell D,Nightingale B,Lee JH,Mohlenhoff J,Bewley S,Ottman R,Mayeux R

更新日期：2001-09-25 00:00:00

abstract：BACKGROUND:Hypothalamic hamartomas (HHs), rare developmental abnormalities of the inferior hypothalamus, often cause refractory, symptomatic, mixed epilepsy, including gelastic seizures. We present 37 patients with HH who underwent transcortical transventricular endoscopic resection. METHODS:Between October 2003 and A...

journal_title：Neurology

authors： Ng YT,Rekate HL,Prenger EC,Wang NC,Chung SS,Feiz-Erfan I,Johnsonbaugh RE,Varland MR,Kerrigan JF

更新日期：2008-04-22 00:00:00

abstract：:A group of 204 muscular dystrophy patients were screened for immunohistochemical and biochemical alpha-sarcoglycan defect and their DNA was analyzed for pathogenetic mutation in the four sarcoglycan genes. We identified 21 patients with alpha-, beta-, or gamma-sarcoglycan gene mutations. Patients with alpha-sarcoglyca...

journal_title：Neurology

authors： Angelini C,Fanin M,Freda MP,Duggan DJ,Siciliano G,Hoffman EP

更新日期：1999-01-01 00:00:00

abstract：:The relationship between multiple sclerosis (MS) and primary Sjögren's syndrome (PSS) is ambiguous; it was suggested that some patients diagnosed with MS may instead have PSS. In a recent epidemiologic study, the prevalence of PSS was 2.7% in southern Sweden. We randomly selected 30 patients with definite MS from our ...

journal_title：Neurology

authors： Sandberg-Wollheim M,Axéll T,Hansen BU,Henricsson V,Ingesson E,Jacobsson L,Larsson A,Lieberkind K,Manthorpe R

更新日期：1992-04-01 00:00:00

abstract：BACKGROUND:Parkinsonian signs such as gait disturbance, rigidity, bradykinesia, and tremor are common among individuals with dementia and are associated with negative outcomes, but little is known about parkinsonian signs among individuals with mild cognitive impairment (MCI). OBJECTIVE:To examine the extent to which ...

journal_title：Neurology

authors： Boyle PA,Wilson RS,Aggarwal NT,Arvanitakis Z,Kelly J,Bienias JL,Bennett DA

更新日期：2005-12-27 00:00:00

abstract：OBJECTIVE:To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC). METHODS:We performed detailed clinical and electrophysiologic characterization in 60 patients with phenotypes consistent with MC. DNA sequencing of CLCN1 followed by multiplex ligation-dependent p...

journal_title：Neurology

authors： Raja Rayan DL,Haworth A,Sud R,Matthews E,Fialho D,Burge J,Portaro S,Schorge S,Tuin K,Lunt P,McEntagart M,Toscano A,Davis MB,Hanna MG

更新日期：2012-06-12 00:00:00

abstract：:We evaluated four formulas for estimating the intra-blood-brain barrier (IBBB) synthesis of IgG in a computer model of two types of BBB damage and in 1,629 consecutively received pairs of CSF and serum. These four formulas were the IgG synthesis rate (SR), IgG(loc) (ie, local), IgG index, and IgG extended index. Resul...

journal_title：Neurology

authors： Peter JB,Bowman RL

更新日期：1992-03-01 00:00:00

abstract：:We studied the effects of low-frequency transcranial magnetic stimulation (TMS) on motor cortex excitability in humans. TMS at 0.1 Hz for 1 hour did not change cortical excitability. Stimulation at 0.9 Hz for 15 minutes (810 pulses), similar to the parameters used to induce long-term depression (LTD) in cortical slice...

journal_title：Neurology

authors： Chen R,Classen J,Gerloff C,Celnik P,Wassermann EM,Hallett M,Cohen LG

更新日期：1997-05-01 00:00:00

abstract：OBJECTIVE:To assess neurodevelopmental outcome after endovascular treatment of vein of Galen malformations (VOGM). METHODS:Outcome of patients who underwent endovascular treatment for VOGM between 1983 and 2002 was assessed by chart review and parental questionnaires. Development was classified as normal, minor delay ...

journal_title：Neurology

authors： Fullerton HJ,Aminoff AR,Ferriero DM,Gupta N,Dowd CF

更新日期：2003-11-25 00:00:00

abstract：OBJECTIVE:To evaluate relationships among cognitive, behavioral, and psychiatric/psychosocial measures assessed in a multicenter cohort of patients with amyotrophic lateral sclerosis (ALS). METHODS:Recently diagnosed patients with definite or probable ALS diagnosis were administered 7 standardized psychiatric/psychoso...

journal_title：Neurology

authors： Rabkin J,Goetz R,Murphy JM,Factor-Litvak P,Mitsumoto H,ALS COSMOS Study Group.

更新日期：2016-09-27 00:00:00

abstract：OBJECTIVE:To correlate muscle biopsy findings with prebiopsy and postbiopsy clinical course and response to therapy in polymyositis (PM) and sporadic inclusion body myositis (IBM). BACKGROUND:Existence of pure PM has recently been questioned; subsequently, the definition and criteria for diagnosing PM were debated. M...

journal_title：Neurology

authors： Chahin N,Engel AG

更新日期：2008-02-05 00:00:00

abstract：:The results of a multicenter, double-blind, placebo-controlled clinical trial of the efficacy and safety of progabide (PGB) in the treatment of partial seizures are presented. This study was performed with a number of rigorous controls not usually present in clinical trials. These included uniform co-medication in whi...

journal_title：Neurology

authors： Leppik IE,Dreifuss FE,Porter R,Bowman T,Santilli N,Jacobs M,Crosby C,Cloyd J,Stackman J,Graves N

更新日期：1987-06-01 00:00:00

abstract：:Two adult brothers became ill within 48 hours of each other, and both had severe myoglobinuria. One brother died of oliguric renal failure. The other did not have renal failure and survived. Acute influenza A infection was documented serologically and from throat washings in the surviving brother, and by isolation of ...

journal_title：Neurology

authors： Zamkoff K,Rosen N

更新日期：1979-03-01 00:00:00

abstract：OBJECTIVE:To track cognitive and language changes over time in patients with logopenic (lv-PPA) and semantic (sv-PPA) variants of primary progressive aphasia (PPA). METHODS:Thirteen consecutive patients with lv-PPA and 11 patients with sv-PPA underwent yearly evaluation for a mean of 3 years. Nineteen patients (11 lv-...

journal_title：Neurology

authors： Leyton CE,Hsieh S,Mioshi E,Hodges JR

更新日期：2013-03-05 00:00:00

abstract：:We report 9 patients with an isolated infarct of the anterior part of the rostral cerebellum, ie, the territory of the lateral branch of the superior cerebellar artery. Clinicoanatomic correlations are based on CT, MRI, or both in 8 patients and on pathologic data in the ninth. The main clinical features were ipsilate...

journal_title：Neurology

authors： Amarenco P,Roullet E,Goujon C,Chéron F,Hauw JJ,Bousser MG

更新日期：1991-02-01 00:00:00

abstract：:Electroencephalography has traditionally been considered a useful adjunct to the clinical evaluation of headache. We performed a literature review to determine whether evidence supports the routine use of the electroencephalogram (EEG) for patients with headache. After excluding case reports, case series in which subj...

journal_title：Neurology

authors： Gronseth GS,Greenberg MK

更新日期：1995-07-01 00:00:00

abstract：OBJECTIVE:We aimed to create an index to stratify cryptogenic stroke (CS) patients with patent foramen ovale (PFO) by their likelihood that the stroke was related to their PFO. METHODS:Using data from 12 component studies, we used generalized linear mixed models to predict the presence of PFO among patients with CS, a...

journal_title：Neurology

authors： Kent DM,Ruthazer R,Weimar C,Mas JL,Serena J,Homma S,Di Angelantonio E,Di Tullio MR,Lutz JS,Elkind MS,Griffith J,Jaigobin C,Mattle HP,Michel P,Mono ML,Nedeltchev K,Papetti F,Thaler DE

更新日期：2013-08-13 00:00:00

abstract：:A 78-year-old woman presented with a right basal ganglia infarct 6 weeks after a left herpes zoster ophthalmicus. MR angiography showed focal segmental stenosis of the proximal segments of the anterior, middle, and posterior cerebral arteries. Varicella DNA was detected in the CSF by polymerase chain reaction (PCR). T...

journal_title：Neurology

authors： Melanson M,Chalk C,Georgevich L,Fett K,Lapierre Y,Duong H,Richardson J,Marineau C,Rouleau GA

更新日期：1996-08-01 00:00:00

abstract：:A 57-year-old chronically immunosuppressed woman with systemic lupus erythematosus developed fulminant meningoencephalitis due to Acanthamoeba castellanii. Amebic trophozoites were also found in the lungs, suggesting a primary pulmonary focus of infection. This case illustrates that Acanthamoeba can cause a fulminant,...

journal_title：Neurology

authors： Grunnet ML,Cannon GH,Kushner JP

更新日期：1981-02-01 00:00:00

abstract：BACKGROUND:In epilepsy as in other disorders, family history information is often obtained by asking patients about the medical histories of their relatives rather than interviewing or examining the relatives directly. The accuracy of this type of information for epilepsy and other seizure disorders is unclear. METHOD...

journal_title：Neurology

authors： Ottman R,Barker-Cummings C,Leibson CL,Vasoli VM,Hauser WA,Buchhalter JR

更新日期：2011-01-25 00:00:00

abstract：:Of 53 patients with drug-induced seizures seen in the last decade, 45% had single seizures, 40% had multiple convulsions, and 15% had status epilepticus. Generalized seizures with focal features were common, but simple partial (motor) seizures occurred in only two patients. Isoniazid, insulin, lidocaine, and psychotro...

journal_title：Neurology

authors： Messing RO,Closson RG,Simon RP

更新日期：1984-12-01 00:00:00

abstract：OBJECTIVE:To undertake an effectiveness and safety analysis of EVT in patients with LVO and NIH Stroke Scale (NIHSS) score ≤6 using datasets of multicenter and multinational nature. METHODS:We pooled patients with anterior circulation occlusion from 3 prospective international cohorts. Patients were eligible if presen...

journal_title：Neurology

authors： Volny O,Zerna C,Tomek A,Bar M,Rocek M,Padr R,Cihlar F,Nevsimalova M,Jurak L,Havlicek R,Kovar M,Sevcik P,Rohan V,Fiksa J,Cernik D,Jura R,Vaclavik D,Cimflova P,Puig J,Dowlatshahi D,Khaw AV,Fainardi E,Najm M,De

更新日期：2020-12-15 00:00:00

abstract：BACKGROUND:In patients with active epilepsy, adverse medication effects and severity of depression are correlated with health-related quality of life, but seizure frequency is not. We sought to examine if the same pattern exists in patients with psychogenic nonepileptic seizures (PNES). METHODS:We administered seizure...

journal_title：Neurology

authors： LaFrance WC Jr,Syc S

更新日期：2009-08-04 00:00:00

abstract：BACKGROUND:Treatment with 3-hydroxy-3-methylglutaryl-coenzyme-A reductase inhibitors ("statins") has been associated in some epidemiologic studies with reduced risk of Alzheimer disease (AD). However, direct evidence of statin effects on neuropathologic markers of AD is lacking. We investigated whether antecedent stati...

journal_title：Neurology

authors： Li G,Larson EB,Sonnen JA,Shofer JB,Petrie EC,Schantz A,Peskind ER,Raskind MA,Breitner JC,Montine TJ

更新日期：2007-08-28 00:00:00

abstract：BACKGROUND:Long-term treatment with valproate (VPA) or carbamazepine (CBZ) may induce reproductive endocrine disorders in patients with epilepsy. METHODS:Serum concentrations of reproductive hormones were studied in 17 women and 22 men with recently diagnosed epilepsy before they started either VPA or CBZ medication, ...

journal_title：Neurology

authors： Rättyä J,Pakarinen AJ,Knip M,Repo-Outakoski M,Myllylä VV,Isojärvi JI

更新日期：2001-08-14 00:00:00

abstract：OBJECTIVES:To investigate whether (1) there were differences between HLA-DRB1*15-positive and -negative patients at baseline, and (2) HLA-DRB1*15-positive patients showed a greater development of brain and spinal cord damage, as assessed by MRI, and greater progression of disability, during a 5-year follow-up, compared...

journal_title：Neurology

authors： Tur C,Ramagopalan S,Altmann DR,Bodini B,Cercignani M,Khaleeli Z,Miller DH,Thompson AJ,Ciccarelli O

更新日期：2014-11-04 00:00:00