Prion protein codon 129 polymorphism and risk of Alzheimer disease.


:The authors investigated the PRNP Met129Val polymorphism in 1,393 subjects including 482 patients with Alzheimer disease (AD) and two independent control groups. In patients, PRNP Met homozygosity conferred increasing risk with decreasing age at onset (onset: 61 to 70 years, n = 151, p = 0.02, odds ratio [OR] = 1.72, 95% CI = 1.2 to 2.53; onset: < or =60 years, n = 138, p = 0.013, OR = 1.92, 95% CI = 1.31 to 2.87), whereas no association was obtained in patients with onset at older than 70 years. The results suggest involvement of the prion protein in the pathogenesis of early-onset AD.






Riemenschneider M,Klopp N,Xiang W,Wagenpfeil S,Vollmert C,Müller U,Förstl H,Illig T,Kretzschmar H,Kurz A




Has Abstract


2004-07-27 00:00:00














  • Mild cognitive impairment in the oldest old.

    abstract:BACKGROUND:No data exist on whether the syndrome of amnestic mild cognitive impairment occurs in the oldest old, or if the relationships for functional status and neuropsychometric performance based on clinical diagnosis hold true in this age group. DESIGN/METHODS:The authors performed comprehensive neurologic evaluat...


    pub_type: 杂志文章


    authors: Boeve B,McCormick J,Smith G,Ferman T,Rummans T,Carpenter T,Ivnik R,Kokmen E,Tangalos E,Edland S,Knopman D,Petersen R

    更新日期:2003-02-11 00:00:00

  • Brain size, head size, and intelligence quotient in monozygotic twins.

    abstract::Many studies of monozygotic (MZ) twins have revealed evidence of genetic influences on intellectual functions and their derangement in certain neurologic and psychiatric diseases afflicting the forebrain. Relatively little is known about genetic influences on the size and shape of the human forebrain and its gross mor...


    pub_type: 临床试验,杂志文章


    authors: Tramo MJ,Loftus WC,Stukel TA,Green RL,Weaver JB,Gazzaniga MS

    更新日期:1998-05-01 00:00:00

  • SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.

    abstract:BACKGROUND:Inherited and de novo mutations in sodium channel genes underlie a variety of channelopathies. Mutations in SCN2A, encoding the brain sodium channel Na(V)1.2, have previously been reported to be associated with benign familial neonatal infantile seizures, febrile seizures plus, and intractable epilepsy of in...


    pub_type: 杂志文章


    authors: Liao Y,Anttonen AK,Liukkonen E,Gaily E,Maljevic S,Schubert S,Bellan-Koch A,Petrou S,Ahonen VE,Lerche H,Lehesjoki AE

    更新日期:2010-10-19 00:00:00

  • AIDS-associated progressive multifocal leukoencephalopathy (PML): comparison to non-AIDS PML with in situ hybridization and immunohistochemistry.

    abstract::We studied brain sections from 10 patients with the acquired immunodeficiency syndrome (AIDS) and progressive multifocal leukoencephalopathy (PML) by in situ hybridization with a biotin-labeled JC virus (JCV) DNA probe and by immunohistochemistry using antibody against the JCV capsid antigen. We compared the results w...


    pub_type: 杂志文章


    authors: Aksamit AJ,Gendelman HE,Orenstein JM,Pezeshkpour GH

    更新日期:1990-07-01 00:00:00

  • Elevated CSF free kappa light chains correlate with disability prognosis in multiple sclerosis.

    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...


    pub_type: 临床试验,杂志文章


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

    更新日期:2006-10-10 00:00:00

  • Functional paralysis of horizontal gaze.

    abstract::A 52-year-old steelworker displayed a consistent defect in leftward voluntary gaze across the midline. Both fast (saccadic) and slow (pursuit) eye movements were affected. Neuro-ophthalmologic evaluation revealed no additional neurologic or ophthalmologic deficit. Pupilary miosis occurred during leftward gaze attempt,...


    pub_type: 杂志文章


    authors: Troost BT,Troost EG

    更新日期:1979-01-01 00:00:00

  • Reversible alexia, mitochondrial myopathy, and lactic acidemia.

    abstract::A 11-year-old boy of short stature had recurrent right temporal pounding headaches of 7 months' duration, and progressive visual loss for 3 days. There was a left hemianopia, alexia without agraphia, and diffuse muscle weakness. Investigation established the presence of a mitochondrial myopathy with pyruvate and lacti...


    pub_type: 杂志文章


    authors: Skoglund RR

    更新日期:1979-05-01 00:00:00

  • Effects of fish oil supplementation on acute ischemic brain injury in the rat.

    abstract::We studied the effects of long-term fish oil (FO) dietary supplementation on brain edema, polymorphonuclear neutrophil (PMN) infiltration, and infarct size in a rat stroke model. Rats were given regular rat chow with or without FO supplement (20% of total calories) for 7 weeks. Body weight did not differ between the t...


    pub_type: 杂志文章


    authors: Lai ML,Hsu CY,Liu TH,He YY,Xu J,Navidi M,Sun G,Hogan EL

    更新日期:1993-06-01 00:00:00

  • Gabapentin relieves trigeminal neuralgia in multiple sclerosis patients.

    abstract::This report describes the effectiveness of gabapentin, a recently approved anticonvulsant, in seven patients with MS experiencing trigeminal neuralgia refractory to treatment with conventional medical therapy. Gabapentin relieved pain completely in six and significantly in the seventh patient. Gabapentin may be a valu...


    pub_type: 杂志文章


    authors: Khan OA

    更新日期:1998-08-01 00:00:00

  • Quantitation of herpes simplex virus type 1 DNA in cells of cerebrospinal fluid of patients with herpes simplex virus encephalitis.

    abstract::We used a nested polymerase chain reaction assay to quantitate the number of viral copies in cells of CSF of eight patients with herpes simplex virus encephalitis (HSVE). The viral load was monitored in serial CSF samples during the course of disease and correlated to clinical symptoms, radiologic manifestations, effi...


    pub_type: 杂志文章


    authors: Wildemann B,Ehrhart K,Storch-Hagenlocher B,Meyding-Lamadé U,Steinvorth S,Hacke W,Haas J

    更新日期:1997-05-01 00:00:00

  • Clinical manifestations of chronic thiamine deficiency in rhesus monkey.

    abstract::In the course of multiple episodes of thiamine deficiency in the rhesus monkey, the triad of anorexia, apathy, and hind limb weakness is the earliest clinical manifestation. In later episodes, nystagmus, abducens paresis, midline ataxia, dysmetria, and congestive heart failure are also seen. With the exception of dysm...


    pub_type: 杂志文章


    authors: Mesulam MM,Van Hoesen GW,Butters N

    更新日期:1977-03-01 00:00:00

  • Feasibility and validity of computerized ambulatory monitoring in stroke patients.

    abstract:BACKGROUND:Computerized ambulatory monitoring provides real-time assessments of clinical outcomes in natural contexts, and it has been increasingly applied in recent years to investigate symptom expression in a wide range of disorders. The purpose of this study was to examine the feasibility and validity of this data c...


    pub_type: 杂志文章


    authors: Johnson EI,Sibon I,Renou P,Rouanet F,Allard M,Swendsen J

    更新日期:2009-11-10 00:00:00

  • West Nile virus infection presenting as acute flaccid paralysis in an HIV-infected patient: a case report and review of the literature.

    abstract::We describe a case of West Nile virus (WNV) infection in an HIV-infected patient who presented with an isolated flaccid monoparesis of the right upper extremity. To our knowledge, this is the first reported case of flaccid paralysis caused by WNV infection in an HIV-infected patient. We then review the medical literat...


    pub_type: 杂志文章,评审


    authors: Torno M,Vollmer M,Beck CK

    更新日期:2007-02-13 00:00:00

  • Quantitative MRI in hypomyelinating disorders: Correlation with motor handicap.

    abstract:OBJECTIVE:To assess the correlation of tissue parameters estimated by quantitative magnetic resonance (MR) techniques and motor handicap in patients with hypomyelination. METHODS:Twenty-eight patients with different causes of hypomyelination (12 males, 16 females; mean age 10 years) and 61 controls (33 males, 28 femal...


    pub_type: 杂志文章


    authors: Steenweg ME,Wolf NI,van Wieringen WN,Barkhof F,van der Knaap MS,Pouwels PJ

    更新日期:2016-08-23 00:00:00

  • Chromosome 9p-linked families with frontotemporal dementia associated with motor neuron disease.

    abstract:BACKGROUND:Frontotemporal dementia associated with motor neuron disease (FTD-MND) is a rare neurodegenerative disorder that may be inherited by autosomal dominant trait. No major gene has been identified but a locus was mapped on chromosome 9 (9p21.3-p13.3). METHODS:Ten French families with FTD-MND were tested for lin...


    pub_type: 杂志文章


    authors: Le Ber I,Camuzat A,Berger E,Hannequin D,Laquerrière A,Golfier V,Seilhean D,Viennet G,Couratier P,Verpillat P,Heath S,Camu W,Martinaud O,Lacomblez L,Vercelletto M,Salachas F,Sellal F,Didic M,Thomas-Anterion C,Puel M

    更新日期:2009-05-12 00:00:00

  • Cognition in multiple sclerosis: State of the field and priorities for the future.

    abstract::Cognitive decline is recognized as a prevalent and debilitating symptom of multiple sclerosis (MS), especially deficits in episodic memory and processing speed. The field aims to (1) incorporate cognitive assessment into standard clinical care and clinical trials, (2) utilize state-of-the-art neuroimaging to more thor...


    pub_type: 杂志文章,评审


    authors: Sumowski JF,Benedict R,Enzinger C,Filippi M,Geurts JJ,Hamalainen P,Hulst H,Inglese M,Leavitt VM,Rocca MA,Rosti-Otajarvi EM,Rao S

    更新日期:2018-02-06 00:00:00

  • Temporal arteritis and polymyalgia rheumatica: nosographic and nosologic considerations.

    abstract::Original reports on temporal arteritis and polymyalgia rheumatica were reviewed before and after the introduction of steroid therapy to prevent blindness in temporal arteritis. In some cases, the original data were reworked. There is evidence that both diseases have become more benign. As a result, the perceived risk ...


    pub_type: 杂志文章,评审


    authors: Turnbull J

    更新日期:1996-04-01 00:00:00

  • Spontaneous thrombosis of a giant cerebral aneurysm in five days. Report of a case.

    abstract::This single case report describes a large (giant) left internal carotid aneurysm that showed a very marked decrease in the size of its lumen on reevaluation 5 days after the initial arteriogram. A review of the literature found only 5 cases of spontaneous thrombosis documented by arteriography and only one involved a ...


    pub_type: 杂志文章


    authors: Carlson DH,Thomson D

    更新日期:1976-04-01 00:00:00

  • Blood-brain barrier disruption is associated with increased mortality after endovascular therapy.

    abstract:OBJECTIVE:To evaluate the incidence, baseline characteristics, and clinical prognosis of blood-brain barrier (BBB) disruption after endovascular therapy in acute ischemic stroke patients. METHODS:A total of 220 patients treated with endovascular therapy between April 2007 and October 2011 were identified from a prospe...


    pub_type: 杂志文章


    authors: Desilles JP,Rouchaud A,Labreuche J,Meseguer E,Laissy JP,Serfaty JM,Lapergue B,Klein IF,Guidoux C,Cabrejo L,Sirimarco G,Lavallée PC,Schouman-Claeys E,Amarenco P,Mazighi M

    更新日期:2013-02-26 00:00:00

  • Emergency management of status epilepticus in a high-fidelity simulation: A prospective study.

    abstract:OBJECTIVES:To quantify the quality of physicians' emergency first response to status epilepticus (SE) and to identify risk factors for nonadherence to treatment guidelines in a standardized simulated scenario. METHODS:In this prospective trial, 58 physicians (of different background) of the University Hospital Basel, ...


    pub_type: 杂志文章


    authors: Sutter R,Tisljar K,Opić P,De Marchis GM,Bassetti S,Bingisser R,Hunziker S,Marsch S

    更新日期:2019-11-05 00:00:00

  • Inflammatory markers and cognition in well-functioning African-American and white elders.

    abstract:BACKGROUND:Several lines of evidence suggest that inflammatory mechanisms contribute to AD. OBJECTIVE:To examine whether several markers of inflammation are associated with cognitive decline in African-American and white well-functioning elders. METHODS:The authors studied 3,031 African-American and white men and wom...


    pub_type: 杂志文章


    authors: Yaffe K,Lindquist K,Penninx BW,Simonsick EM,Pahor M,Kritchevsky S,Launer L,Kuller L,Rubin S,Harris T

    更新日期:2003-07-08 00:00:00

  • Seizures and their outcome in progressive multifocal leukoencephalopathy.

    abstract::Seizures are not expected in progressive multifocal leukoencephalopathy (PML), a condition considered to be restricted to the white matter. Review of medical records of 89 patients with possible or proven PML showed an 18% prevalence of seizures. Seizures usually responded well to treatment and did not affect survival...


    pub_type: 杂志文章


    authors: Lima MA,Drislane FW,Koralnik IJ

    更新日期:2006-01-24 00:00:00

  • Diagnostic accuracy of confrontation visual field tests.

    abstract:OBJECTIVE:To determine the diagnostic accuracy of confrontation visual field testing and to compare the accuracy of confrontation tests both individually and in combination. METHODS:Patients were prospectively recruited from ophthalmology clinics over a 6-month period. All patients underwent SITA-standard 24-2 Humphre...


    pub_type: 杂志文章


    authors: Kerr NM,Chew SS,Eady EK,Gamble GD,Danesh-Meyer HV

    更新日期:2010-04-13 00:00:00

  • The role of sex hormones in headache.

    abstract::Changes in estrogen levels at menarche, menstruation, pregnancy, and menopause may trigger or change the prevalence of migraine. The fall in estrogen that occurs with menstruation is the trigger for menstrual migraine, whereas the sustained high estrogen levels during pregnancy frequently result in headache relief. Es...


    pub_type: 杂志文章,评审


    authors: Silberstein SD

    更新日期:1992-03-01 00:00:00

  • Association of aortic plaque with intracranial atherosclerosis in patients with stroke.

    abstract:OBJECTIVE:To determine whether there is a relationship between aortic plaques and intracranial (IC) atherosclerosis. METHODS:We reviewed 922 patients with stroke who had both transesophageal echocardiography and cerebral angiography. The plaques of these patients were classified as either complex aortic plaques (CAP),...


    pub_type: 杂志文章


    authors: Nam HS,Han SW,Lee JY,Ahn SH,Ha JW,Rim SJ,Lee BI,Heo JH

    更新日期:2006-10-10 00:00:00

  • The lower hippocampus global connectivity, the higher its local metabolism in Alzheimer disease.

    abstract:OBJECTIVES:Based on the hippocampus disconnection hypothesis in Alzheimer disease (AD), which postulates that uncoupling from cortical inputs contributes to disinhibition-like changes in hippocampus activity, we suggested that in patients with AD, the more the intrinsic functional connectivity between hippocampus and p...


    pub_type: 杂志文章


    authors: Tahmasian M,Pasquini L,Scherr M,Meng C,Förster S,Mulej Bratec S,Shi K,Yakushev I,Schwaiger M,Grimmer T,Diehl-Schmid J,Riedl V,Sorg C,Drzezga A

    更新日期:2015-05-12 00:00:00

  • Increasing atrial fibrillation prevalence in acute ischemic stroke and TIA.

    abstract:OBJECTIVE:To evaluate trends in atrial fibrillation (AF) prevalence in acute ischemic stroke (AIS) and TIA in the United States. METHODS:We used the Nationwide Inpatient Sample to retrospectively compute weighted prevalence of AF in AIS (n = 4,355,140) and TIA (n = 1,816,459) patients admitted to US hospitals from 200...


    pub_type: 杂志文章


    authors: Otite FO,Khandelwal P,Chaturvedi S,Romano JG,Sacco RL,Malik AM

    更新日期:2016-11-08 00:00:00

  • Investigation of leptomeningeal enhancement in MS: a postcontrast FLAIR MRI study.

    abstract:OBJECTIVE:To investigate possible leptomeningeal contrast enhancement using postcontrast fluid-attenuated inversion recovery (FLAIR) MRI as an additional marker of inflammation in patients with multiple sclerosis (MS). METHODS:A cohort of 112 patients (73 women) with clinically definitive MS or a clinically isolated s...


    pub_type: 杂志文章


    authors: Eisele P,Griebe M,Szabo K,Wolf ME,Alonso A,Engelhardt B,Hennerici MG,Gass A

    更新日期:2015-02-24 00:00:00

  • Diagnosis of Creutzfeldt-Jakob disease: effect of clinical criteria on incidence estimates.

    abstract:OBJECTIVE:To assess the effect of usage of three different versions of Creutzfeldt-Jakob disease (CJD) diagnostic criteria on estimates of CJD incidence. METHODS:A total of 428 patients referred for suspected sporadic CJD between 1991 and 1997 were classified according to different criteria to be compared after analys...


    pub_type: 杂志文章


    authors: Brandel JP,Delasnerie-Lauprêtre N,Laplanche JL,Hauw JJ,Alpérovitch A

    更新日期:2000-03-14 00:00:00

  • The effect of tirilazad mesylate on infarct volume of patients with acute ischemic stroke.

    abstract::The authors investigated whether the lack of effect of tirilazad on clinical outcome in patients with acute ischemic stroke is explained by failure of tirilazad to reduce infarct volume. Overall, tirilazad had no significant effect on infarct volume. In the subgroups of male patients and of those with a cortical infar...


    pub_type: 临床试验,杂志文章


    authors: van der Worp HB,Kappelle LJ,Algra A,Bär PR,Orgogozo JM,Ringelstein EB,Bath PM,van Gijn J,TESS Investigators.,TESS II Investigators.

    更新日期:2002-01-08 00:00:00