Fatal ataxic encephalopathy and carnitine acetyltransferase deficiency: a functional defect of pyruvate oxidation?

abstract：OBJECTIVE:To describe the clinical features of cardiac injury associated with neurogenic pulmonary edema (NPE) in patients with acute subarachnoid hemorrhage (SAH). BACKGROUND:NPE is generally viewed as a form of noncardiogenic pulmonary edema related to massive sympathetic discharge. METHODS:Case series. RESULTS:We...

journal_title：Neurology

authors： Mayer SA,Fink ME,Homma S,Sherman D,LiMandri G,Lennihan L,Solomon RA,Klebanoff LM,Beckford A,Raps EC

更新日期：1994-05-01 00:00:00

abstract：:A 20-year-old mentally retarded woman, who had a history of intractable epileptic seizures since early childhood, had prolonged episodes of confusion, decreased responsiveness and automatic behavior lasting as long as 2 days. These are believed to represent epileptic status of the complex partial (psychomotor) type be...

journal_title：Neurology

authors： Markand ON,Wheeler GL,Pollack SL

更新日期：1978-02-01 00:00:00

abstract：OBJECTIVE:To study the safety of off-label IV thrombolysis in patients with very severe stroke (NIH Stroke Scale [NIHSS] scores >25) compared with severe stroke (NIHSS scores 15-25), where treatment is within European regulations. METHODS:Data were analyzed from 57,247 patients with acute ischemic stroke receiving IV ...

journal_title：Neurology

authors： Mazya MV,Lees KR,Collas D,Rand VM,Mikulik R,Toni D,Wahlgren N,Ahmed N

更新日期：2015-12-15 00:00:00

abstract：OBJECTIVE:To assess whether genetic subgroups in recent amyotrophic lateral sclerosis (ALS) trials responded to treatment with lithium carbonate, but that the treatment effect was lost in a large cohort of nonresponders. METHODS:Individual participant data were obtained from 3 randomized trials investigating the effic...

journal_title：Neurology

authors： van Eijk RPA,Jones AR,Sproviero W,Shatunov A,Shaw PJ,Leigh PN,Young CA,Shaw CE,Mora G,Mandrioli J,Borghero G,Volanti P,Diekstra FP,van Rheenen W,Verstraete E,Eijkemans MJC,Veldink JH,Chio A,Al-Chalabi A,van den Berg

更新日期：2017-10-31 00:00:00

abstract：OBJECTIVE:To use the Unified Batten Disease Rating Scale (UBDRS) to measure the rate of decline in physical and functional capability domains in patients with juvenile neuronal ceroid lipofuscinosis (JNCL) or Batten disease, a neurodegenerative lysosomal storage disorder. We have evaluated the UBDRS in subjects with JN...

journal_title：Neurology

authors： Kwon JM,Adams H,Rothberg PG,Augustine EF,Marshall FJ,Deblieck EA,Vierhile A,Beck CA,Newhouse NJ,Cialone J,Levy E,Ramirez-Montealegre D,Dure LS,Rose KR,Mink JW

更新日期：2011-11-15 00:00:00

abstract：BACKGROUND:Although hospital-outcome relationships have been explored for a variety of procedures and interventions, little is known about the association between annual stroke admission volumes and stroke mortality. Our aim was to determine whether facility type and hospital volume was associated with stroke mortality...

journal_title：Neurology

authors： Saposnik G,Baibergenova A,O'Donnell M,Hill MD,Kapral MK,Hachinski V,Stroke Outcome Research Canada (SORCan) Working Group.

更新日期：2007-09-11 00:00:00

abstract：:We transplanted autologous adrenal medullary tissue into the caudate nucleus of 3 patients with advanced Parkinson's disease. The 1st patient, a 59-year-old man with parkinsonian symptoms for 15 years, had mild improvement in his motor functioning after the operation. However, his postoperative course was characterize...

journal_title：Neurology

authors： Jankovic J,Grossman R,Goodman C,Pirozzolo F,Schneider L,Zhu Z,Scardino P,Garber AJ,Jhingran SG,Martin S

更新日期：1989-09-01 00:00:00

abstract：:The authors evaluated response, time to progression (TTP), survival, prognostic factors, and toxicity in 63 patients with a recurrent glioblastoma multiforme treated with procarbazine, lomustine, and vincristine (PCV) chemotherapy. Complete and partial response was observed in two (3%) and five patients (8%). In 16 pa...

journal_title：Neurology

authors： Kappelle AC,Postma TJ,Taphoorn MJ,Groeneveld GJ,van den Bent MJ,van Groeningen CJ,Zonnenberg BA,Sneeuw KC,Heimans JJ

更新日期：2001-01-09 00:00:00

abstract：:The authors report eight patients with primary dural lymphoma (PDL). All patients had extra-axial masses on MRI that diffusely enhanced after gadolinium. Pathology revealed low-grade non-Hodgkin lymphoma (marginal zone lymphoma of MALT [mucosa-associated lymphoid tissue] type) in all patients. All patients underwent r...

journal_title：Neurology

authors： Iwamoto FM,DeAngelis LM,Abrey LE

更新日期：2006-06-13 00:00:00

abstract：:The effects of acute ethanol injection on force production were measured in normal and chronic alcoholic rats. Acutely injected normal rats, acutely injected chronic alcoholic rats, and noninjected chronic alcoholic rats were compared with control groups: normal nonalcoholic rats and a dietetically deprived control gr...

journal_title：Neurology

authors： Martyn DA,Munsat TL

更新日期：1980-02-01 00:00:00

abstract：OBJECTIVE:To investigate the etiology of aseptic meningitis and encephalitis in an adult population using modern microbiologic methods. METHODS:Consecutive patients (ages > or =16) with aseptic meningitis or encephalitis treated in Turku University Hospital, Finland, during 1999 to 2003 were included in the study. Mic...

journal_title：Neurology

authors： Kupila L,Vuorinen T,Vainionpää R,Hukkanen V,Marttila RJ,Kotilainen P

更新日期：2006-01-10 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：BACKGROUND:Evidence linking APOE to myelin repair, neuronal plasticity, and cerebral inflammatory processes suggests that it may be relevant in multiple sclerosis (MS). The purpose of this study was to determine whether the epsilon4 allele of APOE is associated with cognitive deficits in patients with MS. METHOD:Using...

journal_title：Neurology

authors： Ghaffar O,Reis M,Pennell N,O'Connor P,Feinstein A

更新日期：2010-05-18 00:00:00

abstract：:We compared 42 myasthenia gravis (MG) patients with thymoma with 42 generalized MG patients without thymoma using a modified Osserman classification. The mean Osserman grades at diagnosis, 6 months, and 5 and 10 years post-thymectomy did not differ between groups. Our results indicate that thymoma is not a negative de...

journal_title：Neurology

authors： Bril V,Kojic J,Dhanani A

更新日期：1998-10-01 00:00:00

abstract：:In multifocal motor neuropathy (MMN), little is known of the long-term effect of human immunoglobulin (HIG) infusions as a maintenance therapy. We report a patient who improved after an initial HIG infusion of 2 g/kg and continued to improve both clinically and electrophysiologically during maintenance HIG treatment c...

journal_title：Neurology

authors： Van den Berg LH,Franssen H,Wokke JH

更新日期：1995-05-01 00:00:00

abstract：:We studied four patients with neurologic disorders of the lumbosacral plexus. Except for location of symptoms, the disorder confirmed to criteria established for the clinical diagnosis of brachial plexus neuritis. Acute onset of pain in one or both legs was followed by weakness, loss of stretch reflexes, and sometimes...

journal_title：Neurology

authors： Sander JE,Sharp FR

更新日期：1981-04-01 00:00:00

abstract：:We studied five patients with nonhemorrhagic thalamic infarction with neuropsychological tests, CT, and somatosensory evoked responses (SERs). The three patients with left thalamic lesions had abnormalities of language, memory, visuospatial processing, intellect, and personality-changes compatible with dementia. The t...

journal_title：Neurology

authors： Graff-Radford NR,Eslinger PJ,Damasio AR,Yamada T

更新日期：1984-01-01 00:00:00

abstract：BACKGROUND:Migraine and headache in general have been associated with subsequent risk of stroke, primarily in retrospective case-control studies. Prospective data evaluating the association between specific headache forms and stroke are sparse. METHODS:A prospective cohort study was conducted among 39,754 US health pr...

journal_title：Neurology

authors： Kurth T,Slomke MA,Kase CS,Cook NR,Lee IM,Gaziano JM,Diener HC,Buring JE

更新日期：2005-03-22 00:00:00

abstract：:Coenzyme Q10 (CoQ10) transfers electrons from complexes I and II of the mitochondrial respiratory chain to complex III. There is one published report of human CoQ10 deficiency describing two sisters with encephalopathy, proximal weakness, myoglobinuria, and lactic acidosis. We report a patient who had delayed motor mi...

journal_title：Neurology

authors： Sobreira C,Hirano M,Shanske S,Keller RK,Haller RG,Davidson E,Santorelli FM,Miranda AF,Bonilla E,Mojon DS,Barreira AA,King MP,DiMauro S

更新日期：1997-05-01 00:00:00

abstract：:The one-and-a-half syndrome is a clinical disorder of extraocular movements characterized by a conjugate horizontal gaze palsy in one direction plus an internuclear ophthalmoplegia in the other. The syndrome is usually due to a single unilateral lesion of the paramedian pontine reticular formation or the abducens nucl...

journal_title：Neurology

authors： Wall M,Wray SH

更新日期：1983-08-01 00:00:00

abstract：BACKGROUND:Pregnancy registries for women taking anticonvulsant drugs have been developed to determine more efficiently the fetal risks of each drug. A total of 722 drug-exposed pregnancies are needed to identify a sevenfold increase in the rate of occurrence of a specific abnormality, such as spina bifida, with a freq...

journal_title：Neurology

authors： Holmes LB,Baldwin EJ,Smith CR,Habecker E,Glassman L,Wong SL,Wyszynski DF

更新日期：2008-05-27 00:00:00

abstract：:We studied a family with an extrapyramidal disorder characterized by childhood onset of lower-limb and axial dystonia, followed by parkinsonism. Dramatic response to levodopa therapy and minimal progression in adult life was seen. The family included five generations of affected members of both sexes in an autosomal d...

journal_title：Neurology

authors： Nygaard TG,Duvoisin RC

更新日期：1986-11-01 00:00:00

abstract：OBJECTIVE:Clinical trials of fetal neural tissue transplantation for Huntington disease (HD) have been conducted with variable clinical results. However, no long-term analysis of graft survival and integration has been published. Here, we report the pathologic findings in two patients with HD who died 74 and 79 months ...

journal_title：Neurology

authors： Keene CD,Sonnen JA,Swanson PD,Kopyov O,Leverenz JB,Bird TD,Montine TJ

更新日期：2007-06-12 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：:Cytolytic T lymphocyte precursors (CTL-p) and natural killer precursors (NK-p) in the CSF of 15 MS patients and 11 patients with other neurologic disorders (OND) were quantitatively assessed, using a T-lymphocyte microculture system that allows clonal expansion of all human T cells. CSF CTL-p and NK-p frequencies were...

journal_title：Neurology

authors： Weber WE,Buurman WA,Vandermeeren MM,Medaer RH,Raus JC

更新日期：1987-03-01 00:00:00

abstract：OBJECTIVE:Current prehospital scales used to detect large vessel occlusion reveal very low endovascular thrombectomy (EVT) rates among selected patients. We developed a novel prehospital scale, the Madrid-Direct Referral to Endovascular Center (M-DIRECT), to identify EVT candidates for direct transfer to EVT-capable ce...

journal_title：Neurology

authors： Rodríguez-Pardo J,Riera-López N,Fuentes B,Alonso de Leciñana M,Secades-García S,Álvarez-Fraga J,Busca-Ostolaza P,Carneado-Ruiz J,Díaz-Guzmán J,Egido-Herrero J,Gil-Núñez A,Masjuan-Vallejo J,Real-Martínez V,Vivancos-Mora J,Díez

更新日期：2020-02-25 00:00:00

abstract：BACKGROUND:Co-occurrence of Parkinson disease (PD) and melanoma has been reported in numerous studies. If this was due to common genetic mechanisms, a positive family history of melanoma would be associated with an excessive PD risk, independent of environmental risk factors for PD. METHODS:We prospectively examined a...

journal_title：Neurology

authors： Gao X,Simon KC,Han J,Schwarzschild MA,Ascherio A

更新日期：2009-10-20 00:00:00

abstract：OBJECTIVE:To compare the clinical features of patients showing a classical phenotype of facioscapulohumeral muscular dystrophy (FSHD) with genetic and epigenetic characteristics of the FSHD1 and FSHD2 loci D4Z4 and SMCHD1. METHODS:This is a national multicenter cohort study. We measured motor strength, motor function,...

journal_title：Neurology

authors： Sacconi S,Briand-Suleau A,Gros M,Baudoin C,Lemmers RJLF,Rondeau S,Lagha N,Nigumann P,Cambieri C,Puma A,Chapon F,Stojkovic T,Vial C,Bouhour F,Cao M,Pegoraro E,Petiot P,Behin A,Marc B,Eymard B,Echaniz-Laguna A,Laf

更新日期：2019-05-07 00:00:00

abstract：OBJECTIVE:The objective of this study was to evaluate the association between spinal cord injury (SCI) and type 2 diabetes in a large representative sample and to determine whether an association exists irrespective of known risk factors for type 2 diabetes. METHODS:Data were obtained on 60,678 respondents to the Stat...

journal_title：Neurology

authors： Cragg JJ,Noonan VK,Dvorak M,Krassioukov A,Mancini GB,Borisoff JF

更新日期：2013-11-19 00:00:00

abstract：OBJECTIVE:To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise the degree of clinical suspicion for the diagnosis variant A-T, and to assess a genotype-phenotype relationship for mutations in the ATM gene. METHODS:Retrospective analysis of the clinical characterist...

journal_title：Neurology

authors： Verhagen MM,Abdo WF,Willemsen MA,Hogervorst FB,Smeets DF,Hiel JA,Brunt ER,van Rijn MA,Majoor Krakauer D,Oldenburg RA,Broeks A,Last JI,van't Veer LJ,Tijssen MA,Dubois AM,Kremer HP,Weemaes CM,Taylor AM,van Deuren M

更新日期：2009-08-11 00:00:00