Absence of genetic linkage of Charcot-Marie-Tooth disease (HMSN Ia) with chromosome 1 gene markers.

Abstract:

:We previously reported a large Charcot-Marie-Tooth family not linked to the Duffy blood group marker, supporting the existence of genetic heterogeneity in this neuropathy. In order to investigate the possibility of another disease locus on chromosome 1, we analyzed this family further, using DNA polymorphisms of 6 genes. Absence of linkage makes a second disease locus on chromosome 1 unlikely.

journal_name

Neurology

journal_title

Neurology

authors

Raeymaekers P,De Jonghe P,Backhovens H,Wehnert A,De Winter G,Swerts L,Gheuens J,Martin JJ,Vandenberghe A,Van Broeckhoven C

doi

10.1212/wnl.39.6.844

subject

Has Abstract

pub_date

1989-06-01 00:00:00

pages

844-6

issue

6

eissn

0028-3878

issn

1526-632X

journal_volume

39

pub_type

杂志文章
  • 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...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.29.5.717

    authors: Skoglund RR

    更新日期:1979-05-01 00:00:00

  • Treatment of status epilepticus in children.

    abstract::In children, seizures associated with status epilepticus (SE) include a number of types that are age-related. These types of seizures are not associated with SE in older patients. Likewise, etiologies of SE in children are also unique to this patient population, in particular those responsible for SE in the neonate. C...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:

    authors: Lockman LA

    更新日期:1990-05-01 00:00:00

  • Prevalence of AD among whites: a summary by levels of severity.

    abstract:OBJECTIVE:To determine age- and sex-specific AD prevalence rates for whites using each of four severity-based definitions of a case: a person diagnosed as having at least questionable AD, one diagnosed as having at least mild AD, one diagnosed as having moderate or severe AD, and one diagnosed as having severe AD. MET...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.55.2.198

    authors: Hy LX,Keller DM

    更新日期:2000-07-25 00:00:00

  • Spinal cord injury and type 2 diabetes: results from a population health survey.

    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

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000436074.98534.6e

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

    更新日期:2013-11-19 00:00:00

  • Emergency treatment of status epilepticus.

    abstract::Status epilepticus occurs in more than 50,000 people in the United States each year and should be considered a neurologic emergency. A variety of drugs are used to treat status epilepticus, including i.v. benzodiazepines, phenytoin, and barbiturates. They are all short of being ideal, primarily because of difficulties...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.46.6_suppl_1.20s

    authors: Runge JW,Allen FH

    更新日期:1996-06-01 00:00:00

  • Osteopenia and osteoporosis in idiopathic benign positional vertigo.

    abstract:OBJECTIVE:Causes of benign positional vertigo (BPV) are mostly unknown. The aim of this study was to elucidate an association of osteoporosis with idiopathic BPV. METHODS:Two hundred nine consecutive patients with a confirmed diagnosis of idiopathic BPV underwent bone mineral densitometry of anterior-posterior lumbar ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000345016.33983.e0

    authors: Jeong SH,Choi SH,Kim JY,Koo JW,Kim HJ,Kim JS

    更新日期:2009-03-24 00:00:00

  • Abeta1-42 promotes cholinergic sprouting in patients with AD and Lewy body variant of AD.

    abstract:BACKGROUND:The neurodegenerative process in Alzheimer's disease (AD) and in the Lewy body variant of AD (LBV) patients is characterized by cholinergic dysfunction and deposition of amyloid beta-peptide (Abeta) 1-40 and 1-42; however, the differential effects of Abeta species on the cholinergic system are not completely...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000073987.79060.4b

    authors: Masliah E,Alford M,Adame A,Rockenstein E,Galasko D,Salmon D,Hansen LA,Thal LJ

    更新日期:2003-07-22 00:00:00

  • Idiopathic intracranial hypertension: relationship to depression, anxiety, and quality of life.

    abstract:OBJECTIVE:To explore the incidence of depression and anxiety and to measure quality of life in women with idiopathic intracranial hypertension (IIH), a matched group cross-sectional study was conducted. Women with IIH (n = 28) were compared with control groups of weight- and age-matched women not diagnosed with IIH (n ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.54.2.319

    authors: Kleinschmidt JJ,Digre KB,Hanover R

    更新日期:2000-01-25 00:00:00

  • Weir Mitchell's 1859 demonstration of "a peculiar contraction" produced by a percussion hammer.

    abstract:BACKGROUND:The 1875 publications of Erb and Westphal brought widespread attention to the percussion of muscle stretch reflexes. Although the maneuver may have been observed before 1875, there is little concrete evidence of this. OBJECTIVES:To bring to light an early report of percussion eliciting the muscle stretch re...

    journal_title:Neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1212/01.wnl.0000305968.03898.fe

    authors: Louis ED

    更新日期:2008-03-18 00:00:00

  • Plasma beta-amyloid and white matter lesions in AD, MCI, and cerebral amyloid angiopathy.

    abstract:BACKGROUND:Microvascular brain injury, typically measured by extent of white matter hyperintensity (WMH) on MRI, is an important contributor to cognitive impairment in the elderly. Recent studies suggest a role for circulating beta-amyloid peptide in microvascular dysfunction and white matter disease. METHODS:The auth...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000191403.95453.6a

    authors: Gurol ME,Irizarry MC,Smith EE,Raju S,Diaz-Arrastia R,Bottiglieri T,Rosand J,Growdon JH,Greenberg SM

    更新日期:2006-01-10 00:00:00

  • Practical utility of amyloid and FDG-PET in an academic dementia center.

    abstract:OBJECTIVE:To evaluate the effect of amyloid imaging on clinical decision making. METHODS:We conducted a retrospective analysis of 140 cognitively impaired patients (mean age 65.0 years, 46% primary β-amyloid (Aβ) diagnosis, mean Mini-Mental State Examination 22.3) who underwent amyloid (Pittsburgh compound B [PiB]) PE...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000000032

    authors: Sánchez-Juan P,Ghosh PM,Hagen J,Gesierich B,Henry M,Grinberg LT,O'Neil JP,Janabi M,Huang EJ,Trojanowski JQ,Vinters HV,Gorno-Tempini M,Seeley WW,Boxer AL,Rosen HJ,Kramer JH,Miller BL,Jagust WJ,Rabinovici GD

    更新日期:2014-01-21 00:00:00

  • How redesigning AD clinical trials might increase study partners' willingness to participate.

    abstract:BACKGROUND:Timely recruiting and retaining participants into Alzheimer disease (AD) clinical trials is a challenge. We used conjoint analysis to identify how alterations in attributes of clinical trial design improve willingness to participate: risk, home visits, car service, or increased chance of receiving interventi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000336652.05779.ea

    authors: Karlawish J,Cary MS,Rubright J,Tenhave T

    更新日期:2008-12-02 00:00:00

  • Circulating cortisol and cognitive and structural brain measures: The Framingham Heart Study.

    abstract:OBJECTIVE:To assess the association of early morning serum cortisol with cognitive performance and brain structural integrity in community-dwelling young and middle-aged adults without dementia. METHODS:We evaluated dementia-free Framingham Heart Study (generation 3) participants (mean age 48.5 years, 46.8% men) who u...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000006549

    authors: Echouffo-Tcheugui JB,Conner SC,Himali JJ,Maillard P,DeCarli CS,Beiser AS,Vasan RS,Seshadri S

    更新日期:2018-11-20 00:00:00

  • Irreversible spinal cord injury as a complication of subarachnoid ethanol neurolysis.

    abstract::Subarachnoid neurolysis using ethanol to destroy selectively the posterior roots of the spinal cord is a method for providing pain relief in patients with advanced cancer. Weakness of the extremities is a complication of the procedure that has been attributed to spread of the neurolytic agent to the anterior roots. Th...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.54.7.1522

    authors: McGarvey ML,Ferrante FM,Patel RS,Maljian JA,Stecker M

    更新日期:2000-04-11 00:00:00

  • Sensory neuronopathy and Sjögren's syndrome: clinical and immunologic study of two patients.

    abstract::In two patients, a sensory neuronopathy was the initial presentation of Sjögren's syndrome. There was no systemic or peripheral nerve vasculitis. Immunochemical studies failed to demonstrate specific antibodies against the nervous system. These features suggest that the damage to the sensory neurons might not be media...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.38.10.1637

    authors: Graus F,Pou A,Kanterewicz E,Anderson NE

    更新日期:1988-10-01 00:00:00

  • Relationship between mesial temporal seizure focus and elevated serum prolactin in temporal lobe epilepsy.

    abstract::We evaluated the relationship between mesial temporal seizure focus and serum prolactin (PRL) in patients before and after they underwent anterior temporal lobectomy (ATL) for medically intractable temporal lobe epilepsy (TLE). These patients had a confirmed unilateral epileptogenic focus in mesial temporal structures...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.49.2.528

    authors: Lin YY,Su MS,Yiu CH,Shih YH,Yen DJ,Kwan SY,Wu ZA,Chan SH

    更新日期:1997-08-01 00:00:00

  • Why do patients with PSP fall? Evidence for abnormal otolith responses.

    abstract:BACKGROUND:Patients with progressive supranuclear palsy (PSP) fall frequently, beginning early in the course of their disease. Abnormal vestibulospinal reflexes are suspected, but the angular vestibulo-ocular reflex, which is mediated by the labyrinthine semicircular canals, survives late into the course of the disease...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/01.wnl.0000304134.33380.1e

    authors: Liao K,Wagner J,Joshi A,Estrovich I,Walker MF,Strupp M,Leigh RJ

    更新日期:2008-03-04 00:00:00

  • Nerve regeneration patterns after acute ischemic injury.

    abstract::We performed morphologic studies on regeneration of the cat's hind limb nerves, following simultaneous ligation of the aorta and right femoral artery. There were 2 regeneration patterns depending on the extent of ischemic necrosis. When nerve infarcts were limited only to intrafascicular regions, there was no basic ch...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.39.7.932

    authors: Korthals JK,Gieron MA,Wisniewski HM

    更新日期:1989-07-01 00:00:00

  • Proton MRS profile of cerebral metabolic abnormalities in Krabbe disease.

    abstract:BACKGROUND:Krabbe disease (globoid cell leukodystrophy [GLD]) is an autosomal recessive lysosomal disorder affecting the central and peripheral nervous system. The authors performed MRS to characterize metabolic alterations and their regional variation in brain tissue in GLD in vivo. METHODS:Abnormalities of cerebral ...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章

    doi:10.1212/01.wnl.0000049469.29011.e9

    authors: Brockmann K,Dechent P,Wilken B,Rusch O,Frahm J,Hanefeld F

    更新日期:2003-03-11 00:00:00

  • Surgical treatment for intracerebral hemorrhage (STICH): a single-center, randomized clinical trial.

    abstract:OBJECTIVE:To perform a single-center pilot investigation of early hematoma removal in patients with intracerebral hemorrhage (ICH). BACKGROUND:Considerable debate remains regarding the utility of surgical clot evacuation for ICH. METHODS:This was a prospective trial of open craniotomy within 12 hours of ICH symptom o...

    journal_title:Neurology

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1212/wnl.51.5.1359

    authors: Morgenstern LB,Frankowski RF,Shedden P,Pasteur W,Grotta JC

    更新日期:1998-11-01 00:00:00

  • Whole-exome sequencing identifies a missense mutation in hnRNPA1 in a family with flail arm ALS.

    abstract:OBJECTIVE:To identify the disease-causing gene of a family with upper limb predominant, slowly progressive amyotrophic lateral sclerosis (ALS), which was diagnosed as flail arm syndrome (FAS). METHODS:After causation of 24 known ALS genes was excluded by targeted next-generation sequencing, whole-exome sequencing was ...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000003256

    authors: Liu Q,Shu S,Wang RR,Liu F,Cui B,Guo XN,Lu CX,Li XG,Liu MS,Peng B,Cui LY,Zhang X

    更新日期:2016-10-25 00:00:00

  • Prognosis and response to therapy of cytomegalovirus encephalitis and meningomyelitis in AIDS.

    abstract::Effective diagnosis and treatment of cytomegalovirus infection of the nervous system in AIDS patients has been limited by a lack of sensitive diagnostic measures. Retrospective series suggest a poor prognosis for cytomegalovirus encephalitis with rapid mortality. Polymerase chain reaction amplification of cytomegalovi...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.46.2.444

    authors: Cohen BA

    更新日期:1996-02-01 00:00:00

  • Evaluation of hyperacute infarct volume using ASPECTS and brain CT perfusion core volume.

    abstract:OBJECTIVE:To compare the accuracy of Alberta Stroke Program Early Computed Tomography Score (ASPECTS) and CT perfusion to detect established infarction in acute anterior circulation stroke. METHODS:We performed an observational study in 59 acute anterior circulation ischemic stroke patients who underwent brain noncont...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000004028

    authors: Demeestere J,Garcia-Esperon C,Garcia-Bermejo P,Ombelet F,McElduff P,Bivard A,Parsons M,Levi C

    更新日期:2017-06-13 00:00:00

  • Myasthenia gravis activities of daily living profile.

    abstract::The authors have developed an MG activities of daily living (ADL) profile (MG-ADL)-a simple eight-question survey of MG symptoms. In 254 consecutive encounters with established MG patients, the authors compared scores from the MG-ADL to the quantitative MG score (QMG)-a standardized, reliable scale used in clinical tr...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.52.7.1487

    authors: Wolfe GI,Herbelin L,Nations SP,Foster B,Bryan WW,Barohn RJ

    更新日期:1999-04-22 00:00:00

  • Loss of TBK1 is a frequent cause of frontotemporal dementia in a Belgian cohort.

    abstract:OBJECTIVE:To assess the genetic contribution of TBK1, a gene implicated in amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and FTD-ALS, in Belgian FTD and ALS patient cohorts containing a significant part of genetically unresolved patients. METHODS:We sequenced TBK1 in a hospital-based cohort of 48...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000002220

    authors: Gijselinck I,Van Mossevelde S,van der Zee J,Sieben A,Philtjens S,Heeman B,Engelborghs S,Vandenbulcke M,De Baets G,Bäumer V,Cuijt I,Van den Broeck M,Peeters K,Mattheijssens M,Rousseau F,Vandenberghe R,De Jonghe P,Cras P

    更新日期:2015-12-15 00:00:00

  • The value of stroke prevention and treatment.

    abstract::An emerging issue in stroke prevention and stroke treatment is that therapies shown to be effective in clinical trials are not being used or are being used suboptimally. One of many explanations relates to cost, ranging from concerns about inappropriate use of societal resources to more immediate concerns of organizat...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.51.3_suppl_3.s31

    authors: Matchar DB

    更新日期:1998-09-01 00:00:00

  • The role of small diffusion-weighted imaging lesions in cerebral small vessel disease.

    abstract:OBJECTIVE:To investigate the prevalence of asymptomatic diffusion-weighted imaging-positive (DWI+) lesions in individuals with cerebral small vessel disease (SVD) and identify their role in the origin of SVD markers on MRI. METHODS:We included 503 individuals with SVD from the Radboud University Nijmegen Diffusion Ten...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0000000000008364

    authors: Wiegertjes K,Ter Telgte A,Oliveira PB,van Leijsen EMC,Bergkamp MI,van Uden IWM,Ghafoorian M,van der Holst HM,Norris DG,Platel B,Klijn CJM,Tuladhar AM,de Leeuw FE

    更新日期:2019-10-22 00:00:00

  • Angioplasty and stenting for stroke prevention: good questions that need answers.

    abstract::Extracranial and intracranial angioplasty and stenting of the cerebral vessels are being performed more frequently. One clinical trial demonstrated equivalent outcomes between extracranial carotid angioplasty and carotid endarterectomy, but the results in both groups were suboptimal. Concerns remain about the iatrogen...

    journal_title:Neurology

    pub_type: 杂志文章,评审

    doi:10.1212/wnl.59.5.664

    authors: Chaturvedi S,Fessler R

    更新日期:2002-09-10 00:00:00

  • Proportional anterior commissure area in humans and monkeys.

    abstract::Behavioral testing following division of the corpus callosum has shown that the anterior commissure can transfer information related to visual tasks interhemispherically in nonhuman primates but not in humans. We have found that the ratio of anterior commissure cross-sectional area to total neocortical commissural are...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/wnl.36.11.1513

    authors: Foxman BT,Oppenheim J,Petito CK,Gazzaniga MS

    更新日期:1986-11-01 00:00:00

  • Cerebellar learning distinguishes inflammatory neuropathy with and without tremor.

    abstract:OBJECTIVES:This study aims to investigate if patients with inflammatory neuropathies and tremor have evidence of dysfunction in the cerebellum and interactions in sensorimotor cortex compared to nontremulous patients and healthy controls. METHODS:A prospective data collection study investigating patients with inflamma...

    journal_title:Neurology

    pub_type: 杂志文章

    doi:10.1212/WNL.0b013e318292a2b8

    authors: Schwingenschuh P,Saifee TA,Katschnig-Winter P,Reilly MM,Lunn MP,Manji H,Aguirregomozcorta M,Schmidt R,Bhatia KP,Rothwell JC,Edwards MJ

    更新日期:2013-05-14 00:00:00