A presenilin 1 R278I mutation presenting with language impairment.

Abstract:

:Presenilin (PSEN)1 mutations are responsible for many cases of autosomal dominant Alzheimer disease (AD), although the clinical spectrum has not been fully defined. The authors describe two members of a kindred with a novel PSEN1 mutation (R278I) presenting with language impairment and relative preservation of memory. Screening for PSEN1 mutations may be appropriate in cases of familial dementia even where the clinical phenotype is not typical of AD.

journal_name

Neurology

journal_title

Neurology

authors

Godbolt AK,Beck JA,Collinge J,Garrard P,Warren JD,Fox NC,Rossor MN

doi

10.1212/01.wnl.0000143060.98164.1a

subject

Has Abstract

pub_date

2004-11-09 00:00:00

pages

1702-4

issue

9

eissn

0028-3878

issn

1526-632X

pii

63/9/1702

journal_volume

63

pub_type

杂志文章
  • Handcuff neuropathies.

    abstract::Compressive neuropathy due to tight application of handcuffs occurred in 5 patients. The superficial radial nerve was affected in 8 hands and the median nerve in two. Neurologic deficits persisted as long as 3 years after handcuffing. Nerve conduction studies helped to exclude malingering and other diagnoses. All pati...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.41.1.145

    authors: Stone DA,Laureno R

    更新日期:1991-01-01 00:00:00

  • Brain amyloid load and its associations with cognition and vascular risk factors in FINGER Study.

    abstract:OBJECTIVE:To investigate brain amyloid pathology in a dementia-risk population defined as cardiovascular risk factors, aging, and dementia risk (CAIDE) score of at least 6 but with normal cognition and to examine associations between brain amyloid load and cognitive performance and vascular risk factors. METHODS:A sub...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004827

    authors: Kemppainen N,Johansson J,Teuho J,Parkkola R,Joutsa J,Ngandu T,Solomon A,Stephen R,Liu Y,Hänninen T,Paajanen T,Laatikainen T,Soininen H,Jula A,Rokka J,Rissanen E,Vahlberg T,Peltoniemi J,Kivipelto M,Rinne JO

    更新日期:2018-01-16 00:00:00

  • Lorazepam treatment of experimental status epilepticus in the rat: relevance to clinical practice.

    abstract::We studied the efficacy, pharmacokinetics, and brain entry of lorazepam in the treatment of status epilepticus (SE) using a rat model of secondarily generalized convulsive SE. Lorazepam entered the bloodstream rapidly following intraperitoneal injection. Brain concentrations peaked 10 minutes after peak serum levels w...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.40.6.990

    authors: Walton NY,Treiman DM

    更新日期:1990-06-01 00:00:00

  • Competency to consent to medical treatment in cognitively impaired patients with Parkinson's disease.

    abstract:OBJECTIVES:To investigate capacity to consent to medical treatment (competency) in cognitively impaired patients with PD. BACKGROUND:Although competency has been studied empirically in patients with cortical dementia (AD), no empirical studies have examined competency in patients with PD or other subcortical neurodege...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.56.1.17

    authors: Dymek MP,Atchison P,Harrell L,Marson DC

    更新日期:2001-01-09 00:00:00

  • Primary cervical dystonia and scoliosis: a multicenter case-control study.

    abstract:OBJECTIVE:To study the distribution of prior scoliosis among patients with primary adult-onset cervical dystonia (CD) and matched control subjects. METHODS:Case and control subjects were selected among consecutive outpatients attending four Italian centers. Control outpatients were matched for age (+/-5 years), sex, a...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/01.wnl.0000049932.22065.60

    authors: Defazio G,Abbruzzese G,Girlanda P,Buccafusca M,Currà A,Marchese R,Martino D,Masi G,Mazzella L,Vacca L,Livrea P,Berardelli A

    更新日期:2003-03-25 00:00:00

  • Correlates of posttraumatic epilepsy 35 years following combat brain injury.

    abstract:BACKGROUND:The Vietnam Head Injury Study (VHIS) is a prospective, longitudinal follow-up of 1,221 Vietnam War veterans with mostly penetrating head injuries (PHIs). The high prevalence (45%-53%) of posttraumatic epilepsy (PTE) in this unique cohort makes it valuable for study. METHODS:A standardized multidisciplinary ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181e8e6d0

    authors: Raymont V,Salazar AM,Lipsky R,Goldman D,Tasick G,Grafman J

    更新日期:2010-07-20 00:00:00

  • Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin.

    abstract::Primary deficiency of merosin is the cause of the classic form of congenital muscular dystrophy (CMD) accompanied by brain white matter abnormalities. We report a female infant with dystrophinopathy who was deficient in merosin in skeletal muscle. The patient had a phenotype of typical CMD and white matter abnormaliti...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.49.2.579

    authors: Tachi N,Ohya K,Chiba S,Matsuo M,Patria SY,Matsumura K

    更新日期:1997-08-01 00:00:00

  • Transient ischemic attacks: a prospective study of 225 patients.

    abstract::Between the years 1964 and 1973, 225 patients with transient ischemic attacks (TIAs) due primarily to atherosclerosis were evaluated and treated. They have now been followed for from 3 to 14 years (average 5.5 years). As of 1976, 82 of the 225 patients were dead, 21 from cerebral infarction, 52 from heart disease and ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.28.8.746

    authors: Toole JF,Yuson CP,Janeway R,Johnston F,Davis C,Cordell AR,Howard G

    更新日期:1978-08-01 00:00:00

  • Microdysgenesis in resected temporal neocortex: incidence and clinical significance in focal epilepsy.

    abstract::Fifty patients underwent superficial temporal lobectomy for intractable temporal lobe epilepsy. Total cure rate was 52%, and significant improvement was achieved in 88%. Cytoarchitectural changes in gray and white tissue were analyzed under light microscopy. Neuronal dysgenesis was correlated with the duration of seiz...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.7.1041

    authors: Hardiman O,Burke T,Phillips J,Murphy S,O'Moore B,Staunton H,Farrell MA

    更新日期:1988-07-01 00:00:00

  • Mapping of the gene for X-linked dominant Charcot-Marie-Tooth neuropathy.

    abstract::We performed a clinical study and linkage analysis on 278 subjects (66 affected) belonging to eight families with X-linked dominant Charcot-Marie-Tooth (CMT) neuropathy. This form affects 11.8% of CMT patients in Iowa. Motor nerve conduction velocities (MNCVs) were significantly slowed consistent with type 1 CMT. Fift...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.42.4.903

    authors: Ionasescu VV,Trofatter J,Haines JL,Ionasescu R,Searby C

    更新日期:1992-04-01 00:00:00

  • The impact of new pharmaceutical agents on the cost of neurologic care.

    abstract::Since the emergence of the specialty, neurologists have worked with a rather restricted list of relatively inexpensive pharmacologic agents. This is rapidly changing with the development of new agents for the treatment of migraine, multiple sclerosis, Parkinson's disease, Alzheimer's disease, and epilepsy, accelerated...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.45.3.569

    authors: Gunderson CH

    更新日期:1995-03-01 00:00:00

  • Right hippocampal sclerosis is more common than left after febrile seizures.

    abstract::Temporal lobe epilepsy (TLE) is frequently associated with hippocampal sclerosis (HS) and a history of febrile convulsions (HFC). The authors investigated 292 patients with TLE due to HS. Left HS occurred more frequently (57%) than right HS (43%, p = 0.01). Forty-seven percent of the patients had HFC. In patients with...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/01.wnl.0000052823.29467.a0

    authors: Janszky J,Woermann FG,Barsi P,Schulz R,Halász P,Ebner A

    更新日期:2003-04-08 00:00:00

  • Edema associated with calcified lesions in neurocysticercosis.

    abstract:OBJECTIVE:To determine serial MRI and CT abnormalities around calcified cysts due to cysticercosis in previously treated patients during periods of seizure activity. BACKGROUND:Some patients with calcified lesions due to cysticercosis have seizures. How and why seizures occur in this setting are unknown. METHODS:Thre...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.53.4.777

    authors: Nash TE,Patronas NJ

    更新日期:1999-09-11 00:00:00

  • Outcome prediction in mechanically ventilated neurologic patients by junior neurointensivists.

    abstract:OBJECTIVE:Physician prediction of outcome in critically ill neurologic patients impacts treatment decisions and goals of care. In this observational study, we prospectively compared predictions by neurointensivists to patient outcomes at 6 months. METHODS:Consecutive neurologic patients requiring mechanical ventilatio...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3181d8197f

    authors: Finley Caulfield A,Gabler L,Lansberg MG,Eyngorn I,Mlynash M,Buckwalter MS,Venkatasubramanian C,Wijman CA

    更新日期:2010-04-06 00:00:00

  • Mixed-location cerebral hemorrhage/microbleeds: Underlying microangiopathy and recurrence risk.

    abstract:OBJECTIVE:To assess the predominant type of cerebral small vessel disease (SVD) and recurrence risk in patients who present with a combination of lobar and deep intracerebral hemorrhage (ICH)/microbleed locations (mixed ICH). METHODS:Of 391 consecutive patients with primary ICH enrolled in a prospective registry, 75 (...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004797

    authors: Pasi M,Charidimou A,Boulouis G,Auriel E,Ayres A,Schwab KM,Goldstein JN,Rosand J,Viswanathan A,Pantoni L,Greenberg SM,Gurol ME

    更新日期:2018-01-09 00:00:00

  • Rates and risk factors for progression to incident dementia vary by age in a population cohort.

    abstract:OBJECTIVE:To estimate rate of progression from normal cognition or mild impairment to dementia, and to identify potential risk and protective factors for incident dementia, based on age at dementia onset in a prospective study of a population-based cohort (n = 1,982) aged 65 years and older. METHODS:Following the coho...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000001113

    authors: Ganguli M,Lee CW,Snitz BE,Hughes TF,McDade E,Chang CC

    更新日期:2015-01-06 00:00:00

  • A clinico-neurophysiological study of urogenital dysfunction in MOG-antibody transverse myelitis.

    abstract:OBJECTIVE:To assess the clinical, urodynamic, and neurophysiologic features of patients with persisting bladder, bowel, and sexual dysfunction after transverse myelitis in myelin oligodendrocyte glycoprotein antibody (MOG-Ab) disease. METHODS:Patients with a history of MOG-Ab disease-related transverse myelitis seen p...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000011030

    authors: Li V,Malladi P,Simeoni S,Pakzad M,Everett R,Satukijchai C,Leite MI,Palace J,Panicker JN

    更新日期:2020-11-24 00:00:00

  • Predictive factors of in-hospital CNS complications following liver transplantation.

    abstract::We prospectively evaluated 84 consecutive adult patients with chronic liver disease before and after liver transplantation to define the type and frequency of post-transplant neurologic complications, and to assess possible pretransplant and operative variables associated with in-hospital CNS complications. There were...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.44.7.1226

    authors: Pujol A,Graus F,Rimola A,Beltrán J,Garcia-Valdecasas JC,Navasa M,Grande L,Galofré J,Visa J,Rodés J

    更新日期:1994-07-01 00:00:00

  • Neurologic abnormalities in murderers.

    abstract::Thirty-one individuals awaiting trial or sentencing for murder or undergoing an appeal process requested a neurologic examination through legal counsel. We attempted in each instance to obtain EEG, MRI or CT, and neuropsychological testing. Neurologic examination revealed evidence of "frontal" dysfunction in 20 (64.5%...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.45.9.1641

    authors: Blake PY,Pincus JH,Buckner C

    更新日期:1995-09-01 00:00:00

  • Coexistence of Lambert-Eaton myasthenic syndrome and subacute cerebellar degeneration: differential effects of treatment.

    abstract::A 61-year-old woman presented with two paraneoplastic neurologic disorders--Lambert-Eaton myasthenic syndrome (LEMS) and subacute cerebellar degeneration (SCD)--that antedated the diagnosis of small-cell carcinoma of the lung by 15 months. Plasmapheresis initiated before the identification of the tumor had a beneficia...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.41.10.1682

    authors: Blumenfeld AM,Recht LD,Chad DA,DeGirolami U,Griffin T,Jaeckle KA

    更新日期:1991-10-01 00:00:00

  • Topiramate placebo-controlled dose-ranging trial in refractory partial epilepsy using 200-, 400-, and 600-mg daily dosages. Topiramate YD Study Group.

    abstract::We conducted a randomized double-blind comparison of three doses of the novel antiepileptic drug (AED) topiramate (200, 400, and 600 mg/day) and placebo as adjunctive therapy in patients with refractory partial onset epilepsy receiving one or two other AEDs at therapeutic concentrations. A total of 181 patients comple...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1212/wnl.46.6.1684

    authors: Faught E,Wilder BJ,Ramsay RE,Reife RA,Kramer LD,Pledger GW,Karim RM

    更新日期:1996-06-01 00:00:00

  • Warm and cold complex regional pain syndromes: differences beyond skin temperature?

    abstract:OBJECTIVE:To investigate clinical differences in warm and cold complex regional pain syndrome (CRPS) phenotypes. BACKGROUND:CRPS represents inhomogeneous chronic pain conditions; approximately 70% patients with CRPS have "warm" affected limbs and 30% have "cold" affected limbs. METHODS:We examined 50 patients with "c...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000341930.35494.66

    authors: Eberle T,Doganci B,Krämer HH,Geber C,Fechir M,Magerl W,Birklein F

    更新日期:2009-02-10 00:00:00

  • Prospective memory in patients with juvenile myoclonic epilepsy and their healthy siblings.

    abstract:OBJECTIVE:Prospective memory (PM) describes the ability to fulfill previously planned intentions and is highly dependent on executive functions. Previous studies have shown deficits in executive functions in patients with juvenile myoclonic epilepsy (JME) and in their unaffected siblings. JME has a strong genetic predi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e318202010a

    authors: Wandschneider B,Kopp UA,Kliegel M,Stephani U,Kurlemann G,Janz D,Schmitz B

    更新日期:2010-12-14 00:00:00

  • Oxidative stress in HIV demented patients and protection ex vivo with novel antioxidants.

    abstract:OBJECTIVE:To determine the role of oxidative stress in mediating HIV dementia and to identify novel therapeutic compounds that may block this oxidative stress. METHODS:Brain tissue from patients with HIV encephalitis and macaques with simian immune deficiency virus encephalitis was immunostained for lipid peroxidation...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000042048.85204.3d

    authors: Turchan J,Pocernich CB,Gairola C,Chauhan A,Schifitto G,Butterfield DA,Buch S,Narayan O,Sinai A,Geiger J,Berger JR,Elford H,Nath A

    更新日期:2003-01-28 00:00:00

  • Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

    abstract:OBJECTIVE:To identify the genetic and physiologic basis for recessive myasthenic congenital myopathy in 2 families, suggestive of a channelopathy involving the sodium channel gene, SCN4A. METHODS:A combination of whole exome sequencing and targeted mutation analysis, followed by voltage-clamp studies of mutant sodium ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000007185

    authors: Elia N,Palmio J,Castañeda MS,Shieh PB,Quinonez M,Suominen T,Hanna MG,Männikkö R,Udd B,Cannon SC

    更新日期:2019-03-26 00:00:00

  • Recanalization after intravenous thrombolysis: does a recanalization time window exist?

    abstract:BACKGROUND:To evaluate the time course of major vessel recanalization under IV thrombolysis in relation to functional outcome in acute ischemic stroke. METHODS:A total of 99 patients with an acute anterior circulation vessel occlusion who underwent IV thrombolysis were included. All patients had a standardized admissi...

    journal_title:Neurology

    pub_type: 杂志文章,多中心研究

    doi:10.1212/01.wnl.0000260604.26469.8e

    authors: Wunderlich MT,Goertler M,Postert T,Schmitt E,Seidel G,Gahn G,Samii C,Stolz E,Duplex Sonography in Acute Stroke (DIAS) Study Group.,Competence Network Stroke.

    更新日期:2007-04-24 00:00:00

  • Amyloid imaging and CSF biomarkers in predicting cognitive impairment up to 7.5 years later.

    abstract:OBJECTIVES:We compared the ability of molecular biomarkers for Alzheimer disease (AD), including amyloid imaging and CSF biomarkers (Aβ42, tau, ptau181, tau/Aβ42, ptau181/Aβ42), to predict time to incident cognitive impairment among cognitively normal adults aged 45 to 88 years and followed for up to 7.5 years. METHOD...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e3182918ca6

    authors: Roe CM,Fagan AM,Grant EA,Hassenstab J,Moulder KL,Maue Dreyfus D,Sutphen CL,Benzinger TL,Mintun MA,Holtzman DM,Morris JC

    更新日期:2013-05-07 00:00:00

  • Central nervous system involvement in dengue: a study in fatal cases from a dengue endemic area.

    abstract:OBJECTIVE:This study aimed to determine the frequency of CNS infection by dengue virus (DENV) in individuals with fatal outcomes. METHODS:Samples of 150 individuals suspect of an infection disease and with fatal outcomes were investigated for evidence of the presence of DENV. The sampling was made up of 150 CSF, 120 t...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e31824b94e9

    authors: Araújo FM,Araújo MS,Nogueira RM,Brilhante RS,Oliveira DN,Rocha MF,Cordeiro RA,Araújo RM,Sidrim JJ

    更新日期:2012-03-06 00:00:00

  • Restless legs syndrome: a predictor of lower physical function.

    abstract::Restless legs syndrome (RLS) is characterized by an urge to move the legs. The symptoms are more intense in the evening and during periods of inactivity. RLS symptoms are relieved by movement. It is classified as a sleep disorder, but in many ways it is actually a disorder of wakefulness that seems to intrude upon the...

    journal_title:Neurology

    pub_type: 评论,社论

    doi:10.1212/WNL.0000000000000298

    authors: Auerbach S,Walters AS

    更新日期:2014-04-08 00:00:00

  • Copaxone's effect on MRI-monitored disease in relapsing MS is reproducible and sustained.

    abstract::All but 6% of the subjects with relapsing remitting MS who were randomly assigned to receive glatiramer acetate or placebo for the 9-month controlled phase of the European/Canadian MRI trial entered an open-label extension with quarterly clinical and MRI evaluations for another 9 months. There was a 54% reduction in t...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验

    doi:10.1212/wnl.59.8.1284

    authors: Wolinsky JS,Comi G,Filippi M,Ladkani D,Kadosh S,Shifroni G,European\/Canadian Glatiramer Acetate Study Group.

    更新日期:2002-10-22 00:00:00