Mapping of the gene for a novel spinocerebellar ataxia with pure cerebellar signs and epilepsy.

abstract：:The pharmacokinetics of levodopa (L-dopa) in plasma and in cisternal and lumbar cerebrospinal fluid (CSF) were studied in Rhesus monkeys that were given 2- to 3-hour intravenous infusions of L-dopa. Steady-state L-dopa concentrations in cisternal CSF correlated well with plasma levels, and yielded a CSF:plasma ratio o...

journal_title：Annals of neurology

authors： Hammerstad JP,Woodward WR,Gliessman P,Boucher B,Nutt JG

更新日期：1990-05-01 00:00:00

abstract：OBJECTIVE:Lacunar strokes are a leading cause of cognitive impairment and vascular dementia. However, adequate characterization of cognitive impairment is lacking. The aim of this study was to estimate the prevalence and characterize the neuropsychological impairment in lacunar stroke patients. METHODS:All English-spe...

journal_title：Annals of neurology

authors： Jacova C,Pearce LA,Costello R,McClure LA,Holliday SL,Hart RG,Benavente OR

更新日期：2012-09-01 00:00:00

abstract：:Striopallidodentate calcinosis (Fahr's disease) is characterized clinically by seizures, rigidity, and dementia and pathologically by mineral deposition in the basal ganglia, dentate nucleus, and cerebral cortex. Disorders of iron and calcium-phosphate metabolism are thought to play a role in its pathogenesis. We pres...

journal_title：Annals of neurology

authors： Beall SS,Patten BM,Mallette L,Jankovic J

更新日期：1989-10-01 00:00:00

abstract：:The clinical value of cerebrospinal fluid (CSF) polyamine determinations in childhood medulloblastoma has been suggested. We performed 72 CSF polyamine determinations in 35 children with primary brain tumors. Spermine values were normal and spermidine values were inconsistently elevated. CSF putrescine values, however...

journal_title：Annals of neurology

authors： Phillips PC,Kremzner LT,De Vivo DC

更新日期：1986-04-01 00:00:00

abstract：:Gene therapy methods have continued to develop rapidly, and many initial limitations that hampered clinical application have been overcome. Thus serious consideration of clinical application of gene therapy is warranted for selected disorders in which the pathogenesis is well defined. Parkinson's disease has been the ...

journal_title：Annals of neurology

authors： Kang UJ,Nakamura K

更新日期：2003-01-01 00:00:00

abstract：:alpha 1-Antichymotrypsin (ACT) is a serine protease inhibitor that is markedly elevated in the serum and cerebrospinal fluid of patients with Alzheimer's disease (AD). Patients with Down's syndrome are known to develop neuropathological changes of AD by age 40 years and many become demented. Therefore, in the present ...

journal_title：Annals of neurology

authors： Brugge K,Katzman R,Hill LR,Hansen LA,Saitoh T

更新日期：1992-08-01 00:00:00

abstract：:Regional patterns of cerebral glucose utilization (rCMRglc) and blood flow (rCBF) were examined in the early recovery period following transient forebrain ischemia in order to correlate early postischemic physiological events with regionally selective patterns of ischemic neuropathology. Wistar rats were subjected to ...

journal_title：Annals of neurology

authors： Ginsberg MD,Graham DI,Busto R

更新日期：1985-10-01 00:00:00

abstract：:The consequences of axonal injuries in the adult nervous system depend on the location of the axons: complete anatomical and functional repair can occur in the peripheral but not the central nervous system. A quantitative electron microscopical comparison of the reactions to axonal injuries in a peripheral site (the s...

journal_title：Annals of neurology

authors： Raisman G

更新日期：1978-02-01 00:00:00

abstract：OBJECTIVE:Blunted tachycardia during hypotension is a characteristic feature of patients with autonomic failure, but the range has not been defined. This study reports the range of orthostatic heart rate (HR) changes in patients with autonomic failure caused by neurodegenerative synucleinopathies. METHODS:Patients eva...

journal_title：Annals of neurology

authors： Norcliffe-Kaufmann L,Kaufmann H,Palma JA,Shibao CA,Biaggioni I,Peltier AC,Singer W,Low PA,Goldstein DS,Gibbons CH,Freeman R,Robertson D,Autonomic Disorders Consortium.

更新日期：2018-03-01 00:00:00

abstract：:Dopa-responsive dystonia (DRD) is one form of childhood-onset idiopathic torsion dystonia. Adult-onset parkinsonism has appeared in several previously unaffected members in families with DRD suggesting that this may be an additional phenotypical expression of the disease. We report a family with DRD in which 2 women a...

journal_title：Annals of neurology

authors： Nygaard TG,Takahashi H,Heiman GA,Snow BJ,Fahn S,Calne DB

更新日期：1992-11-01 00:00:00

abstract：:Guillain-Barré syndrome (GBS) is an immune-mediated neuropathy, in which leukocytes and humoral components of the immune system proposedly initiate localized inflammation. An important pathogenic role for anti-GM1 ganglioside antibodies has been suggested. Therefore, we evaluated anti-GM1 IgG antibody-induced leukocyt...

journal_title：Annals of neurology

authors： van Sorge NM,van den Berg LH,Geleijns K,van Strijp JA,Jacobs BC,van Doorn PA,Wokke JH,van de Winkel JG,Leusen JH,van der Pol WL

更新日期：2003-05-01 00:00:00

abstract：:The genetic architecture of common epilepsies is largely unknown. HCNs are excellent epilepsy candidate genes because of their fundamental neurophysiological roles. Screening in subjects with febrile seizures and genetic epilepsy with febrile seizures plus revealed that 2.4% carried a common triple proline deletion (d...

journal_title：Annals of neurology

authors： Dibbens LM,Reid CA,Hodgson B,Thomas EA,Phillips AM,Gazina E,Cromer BA,Clarke AL,Baram TZ,Scheffer IE,Berkovic SF,Petrou S

更新日期：2010-04-01 00:00:00

abstract：:Dentatorubral-pallidoluysian atrophy is an autosomal dominant neurodegenerative disease characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy, and dementia as well as a wide range of ages at onset. A specific unstable trinucleotide repeat expansion in a gene on the short arm of chromoso...

journal_title：Annals of neurology

authors： Ikeuchi T,Koide R,Tanaka H,Onodera O,Igarashi S,Takahashi H,Kondo R,Ishikawa A,Tomoda A,Miike T

更新日期：1995-06-01 00:00:00

abstract：OBJECTIVE:To determine the presence and kinetics of antibodies against synaptic proteins in patients with herpes simplex virus encephalitis (HSE). METHODS:Retrospective analysis of 44 patients with polymerase chain reaction-proven HSE for the presence of a large panel of onconeuronal and synaptic receptor antibodies. ...

journal_title：Annals of neurology

authors： Prüss H,Finke C,Höltje M,Hofmann J,Klingbeil C,Probst C,Borowski K,Ahnert-Hilger G,Harms L,Schwab JM,Ploner CJ,Komorowski L,Stoecker W,Dalmau J,Wandinger KP

更新日期：2012-12-01 00:00:00

abstract：OBJECTIVE:Autosomal recessive primary microcephaly (MCPH) is a rare condition characterized by a reduced cerebral cortex accompanied with intellectual disability. Mutations in 17 genes have been shown to cause this phenotype. Recently, mutations in CIT, encoding CRIK (citron rho-interacting kinase)-a component of the c...

journal_title：Annals of neurology

authors： Moawia A,Shaheen R,Rasool S,Waseem SS,Ewida N,Budde B,Kawalia A,Motameny S,Khan K,Fatima A,Jameel M,Ullah F,Akram T,Ali Z,Abdullah U,Irshad S,Höhne W,Noegel AA,Al-Owain M,Hörtnagel K,Stöbe P,Baig SM,Nürnberg P

更新日期：2017-10-01 00:00:00

abstract：OBJECTIVE:The UCHL-1 gene is widely cited as a susceptibility factor for sporadic Parkinson's disease (PD). The strongest evidence comes from a meta-analysis of small studies that reported the S18Y polymorphism as protective against PD, after pooling studies of white and Asian subjects. Here, we present data that chall...

journal_title：Annals of neurology

authors： Healy DG,Abou-Sleiman PM,Casas JP,Ahmadi KR,Lynch T,Gandhi S,Muqit MM,Foltynie T,Barker R,Bhatia KP,Quinn NP,Lees AJ,Gibson JM,Holton JL,Revesz T,Goldstein DB,Wood NW

更新日期：2006-04-01 00:00:00

abstract：OBJECTIVE:C9orf72 expansion is the most common genetic cause of frontotemporal dementia (FTD). We examined aging trajectories of cortical thickness (CTh) and surface area in C9orf72 expansion adult carriers compared to healthy controls to characterize preclinical cerebral changes leading to symptoms. METHODS:Data were...

journal_title：Annals of neurology

authors： Le Blanc G,Jetté Pomerleau V,McCarthy J,Borroni B,van Swieten J,Galimberti D,Sanchez-Valle R,LaForce R Jr,Moreno F,Synofzik M,Graff C,Masellis M,Tartaglia MC,Rowe JB,Vandenberghe R,Finger E,Tagliavini F,de Mendonça A,

更新日期：2020-07-01 00:00:00

abstract：:Positron emission tomography (PET) of glucose metabolism is often applied for the localization of epileptogenic brain regions, but hypometabolic areas are often larger than or can miss epileptogenic cortex in nonlesional neocortical epilepsy. The present study is a three-dimensional brain surface analysis designed to ...

journal_title：Annals of neurology

authors： Juhász C,Chugani DC,Muzik O,Watson C,Shah J,Shah A,Chugani HT

更新日期：2000-07-01 00:00:00

abstract：:Seven patients with postfacial palsy contracture and mass contractions were investigated electrophysiologically. In 3 patients the early blink reflex showed an unusually high amplitude, which can be attributed to enhanced excitability of facial motor neurons. In 5 patients the early blink reflex had acquired a crossed...

journal_title：Annals of neurology

authors： Bratzlavsky M,vander Eecken H

更新日期：1977-07-01 00:00:00

abstract：:Discussing the problem of multiple sclerosis and viruses should not be limited to reviewing the epidemiological evidence in favor, or against, a particular candidate, such as Epstein-Barr virus or human herpes virus 6. In this text, I discuss the difficulty of going from association to causation in human epidemiology;...

journal_title：Annals of neurology

authors： Brahic M

更新日期：2010-07-01 00:00:00

abstract：:Plasma valproate concentrations were monitored prospectively in 54 previously untreated adult patients with epilepsy. Dose and plasma concentration were highly correlated. Adverse effects were common in association with plasma levels above 100 micrograms/ml. In patients suffering tonic-clonic seizures without focal sy...

journal_title：Annals of neurology

authors： Turnbull DM,Rawlins MD,Weightman D,Chadwick DW

更新日期：1983-07-01 00:00:00

abstract：:Prevalence and titer of total, free, and bound cerebrospinal fluid anti-myelin basic protein (MBP) antibodies as well as free/bound ratios were determined in four groups of patients with multiple sclerosis (MS) and three groups of controls. All patients with clinically active MS have elevated levels of total anti-MBP,...

journal_title：Annals of neurology

authors： Warren KG,Catz I

更新日期：1986-07-01 00:00:00

abstract：OBJECTIVE:To determine the clinical consequences of the PMP22 point mutation, T118M, which has been previously considered to either cause an autosomal recessive form of Charcot-Marie-Tooth (CMT) disease or be a benign polymorphism. METHODS:We analyzed patients from five separate kindreds and characterized their periph...

journal_title：Annals of neurology

authors： Shy ME,Scavina MT,Clark A,Krajewski KM,Li J,Kamholz J,Kolodny E,Szigeti K,Fischer RA,Saifi GM,Scherer SS,Lupski JR

更新日期：2006-02-01 00:00:00

abstract：:To examine the antiparkinsonian effects of blocking glycineB receptors, we designed a pilot study testing the potent and selective antagonist, PAMQX, in 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-treated primates. PAMQX had no intrinsic effects but markedly potentiated the antiparkinsonian action of levodopa. In a d...

journal_title：Annals of neurology

authors： Papa SM,Auberson YP,Greenamyre JT

更新日期：2004-11-01 00:00:00

abstract：:A previously healty 43-year-old woman developed bilateral middle cerebral artery occlusion, thrombocytopenia, and multiple thrombi of arteries in the spleen. No underlying cause of her thrombotic disease was detected except for a factor VIII level that was elevated fivefold. An etiological relationship between the cer...

journal_title：Annals of neurology

authors： Kosik KS,Furie B

更新日期：1980-10-01 00:00:00

abstract：:The ability to distinguish adaptive cortical reorganization may help to target future therapeutic strategies after neurological insult. We investigated cortical plasticity by prospectively applying visual functional magnetic resonance imaging (fMRI) and optic nerve MRI to 20 patients with acute optic neuritis at basel...

journal_title：Annals of neurology

authors： Toosy AT,Hickman SJ,Miszkiel KA,Jones SJ,Plant GT,Altmann DR,Barker GJ,Miller DH,Thompson AJ

更新日期：2005-05-01 00:00:00

abstract：:Evidence implicating mitochondrial dysfunction in the central nervous system of patients with sporadic amyotrophic lateral sclerosis (SALS) has recently been accumulating. In contrast, data on mitochondrial function in skeletal muscle in SALS are scarce and controversial. We investigated the in situ properties of musc...

journal_title：Annals of neurology

authors： Echaniz-Laguna A,Zoll J,Ribera F,Tranchant C,Warter JM,Lonsdorfer J,Lampert E

更新日期：2002-11-01 00:00:00

abstract：OBJECTIVE:Cortical spreading depolarizations (CSDs) are intense and ubiquitous depolarization waves relevant for the pathophysiology of migraine and brain injury. CSDs disrupt the blood-brain barrier (BBB), but the mechanisms are unknown. METHODS:A total of six CSDs were evoked over 1 hour by topical application of 30...

journal_title：Annals of neurology

authors： Sadeghian H,Lacoste B,Qin T,Toussay X,Rosa R,Oka F,Chung DY,Takizawa T,Gu C,Ayata C

更新日期：2018-09-01 00:00:00

abstract：:We have conducted a trial to randomly assess the efficacy and tolerance of intravenous immunoglobulin (i.v.Ig) or plasma exchange (PE) in myasthenia gravis (MG) exacerbation and to compare two doses of i.v.Ig. Eighty-seven patients with MG exacerbation were randomized to receive either three PE (n = 41), or i.v.Ig (n ...

journal_title：Annals of neurology

authors： Gajdos P,Chevret S,Clair B,Tranchant C,Chastang C

更新日期：1997-06-01 00:00:00

abstract：OBJECTIVE:To examine the association between odor identification deficits and future mortality in a multiethnic community cohort of older adults. METHODS:Participants were evaluated with the 40-item University of Pennsylvania Smell Identification Test (UPSIT). Follow-up occurred at 2-year intervals with information on...

journal_title：Annals of neurology

authors： Devanand DP,Lee S,Manly J,Andrews H,Schupf N,Masurkar A,Stern Y,Mayeux R,Doty RL

更新日期：2015-09-01 00:00:00