Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree.


:Neurofibromatosis 2 (NF2), a dominantly inherited disorder, typically manifests as bilateral vestibular schwannomas and predisposes to other nervous system tumors. In this study, we present a large pedigree with a benign course of NF2 (mild Gardner type) characterized by slowly growing vestibular schwannomas but few other manifestations. The family was thoroughly investigated with neurologic, ophthalmologic, and neuro-otologic methods including gadolinium-enhanced MRI of the head and spine and DNA linkage analysis. In the clinical analysis of 22 family members, MRI was superior to neuro-otologic methods in the detection of asymptomatic tumors. Based on the DNA linkage analyses we identified the NF2 mutation carriers with a high degree of certainty. These DNA markers (CRYB2, NEFH, D22S268, and D22S280) can also be used for presymptomatic diagnosis in other NF2 families. Early detection of NF2 gene mutation carriers has become possible using linkage analysis in familial NF2. MRI screening of carriers will reveal presymptomatic vestibular schwannomas (and other CNS tumors), making early intervention possible, but an efficient treatment strategy to prevent deafness has not yet been established.






Sainio M,Strachan T,Blomstedt G,Salonen O,Setälä K,Palotie A,Palo J,Pyykkö I,Peltonen L,Jääskeläinen J




Has Abstract


1995-07-01 00:00:00












  • Chronic headache: appropriate use of opiate analgesics.

    abstract::The question of the appropriate use of opiate analgesics in the management of chronic headache pain is under debate. Often, the management of headache pain is complicated by the overuse of dependency-promoting analgesics. Because of confusion about the use of analgesics in pain management, some patients are denied acc...


    pub_type: 杂志文章


    authors: Markley HG

    更新日期:1994-05-01 00:00:00

  • Magnetic resonance brain tumor imaging in canine glioma.

    abstract::This study investigates a canine model of experimental brain tumor. Particularly addressed was the usefulness of gadolinium contrast-enhanced MRI for differentiating brain tumor tissue from cerebral edema. Cultured canine glioma cells were injected into the left hemispheres of six adult mongrel dogs. All dogs develope...


    pub_type: 杂志文章


    authors: Whelan HT,Clanton JA,Moore PM,Tolner DJ,Kessler RM,Whetsell WO Jr

    更新日期:1987-07-01 00:00:00

  • Physiologic events initiating REM sleep in patients with the postpolio syndrome.

    abstract:BACKGROUND:We previously studied the occurrence of muscle tone reduction (MTR), sawtooth waves (STW), and REM in sleep, and found a stereotypical sequence of these events in normal subjects. Patients with the postpolio syndrome may have involvement of the reticular formation in the brainstem, an area known to mediate i...


    pub_type: 杂志文章


    authors: Siegel H,McCutchen C,Dalakas MC,Freeman A,Graham B,Alling D,Sato S

    更新日期:1999-02-01 00:00:00

  • Coccidioidal meningitis and brain abscesses: analysis of 71 cases at a referral center.

    abstract:OBJECTIVE:Coccidioides species are the most common etiologic agents of chronic meningitis in regions endemic for coccidioidomycosis. Occasionally, even short-term travel to endemic regions results in the acquisition of meningeal disease, so awareness of this complication of coccidioidomycosis is important even in nonen...


    pub_type: 杂志文章


    authors: Drake KW,Adam RD

    更新日期:2009-11-24 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

  • Migraine and the risk of cervical artery dissection: a case-control study.

    abstract::The association between migraine and cervical artery dissection (CAD) was explored in a hospital-based case-control study. Migraine was present in 49.1% (23/47) of patients with CAD and in 21% (11/52) of patients hospitalized for a cerebral ischemic event not related to a CAD (adjusted odds ratio = 3.6; 1.5 to 8.6, p ...


    pub_type: 杂志文章


    authors: Tzourio C,Benslamia L,Guillon B,Aïdi S,Bertrand M,Berthet K,Bousser MG

    更新日期:2002-08-13 00:00:00

  • Brain injury, edema, and vascular permeability changes induced by oxygen-derived free radicals.

    abstract::We studied the cerebral effects of oxygen-derived free radicals generated from the xanthine oxidase/hypoxanthine/ADP-Fe3+ system. Xanthine oxidase/hypoxanthine/ADP-Fe3+ solution (0.1 ml) was infused into caudate putamen, and brain was frozen rapidly in situ. Brain water and sodium content increased concomitant with de...


    pub_type: 杂志文章


    authors: Chan PH,Schmidley JW,Fishman RA,Longar SM

    更新日期:1984-03-01 00:00:00

  • Lesion of thalamic centromedian--parafascicular complex after chronic deep brain stimulation.

    abstract::A patient with PD who exhibited disabling tremor and prominent dyskinesia underwent deep brain stimulation (DBS) of the left thalamic ventral intermediate nucleus. The electrode migrated and was replaced but with suboptimal clinical response. Two years later, postmortem analysis found the second electrode tip had ente...


    pub_type: 杂志文章


    authors: Henderson JM,O'Sullivan DJ,Pell M,Fung VS,Hely MA,Morris JG,Halliday GM

    更新日期:2001-06-12 00:00:00

  • The impact of lesion side on acute stroke treatment.

    abstract:BACKGROUND:Only a small percentage of patients with acute stroke are treated with recombinant tissue plasminogen activator (rt-PA). OBJECTIVE:To investigate why patients with right-hemisphere strokes seem at high risk of not receiving rt-PA. METHODS:This study includes two phases. Phase 1: the authors compared demogr...


    pub_type: 杂志文章


    authors: Di Legge S,Fang J,Saposnik G,Hachinski V

    更新日期:2005-07-12 00:00:00

  • Progression after chronic manganese exposure.

    abstract::We report a longitudinal follow-up study on six patients with chronic manganese-induced parkinsonism following cessation of manganese exposure. Compared with the 1987 study, their parkinsonian symptoms showed a slow progression, particularly in gait disturbances such as freezing during turning and walking backward wit...


    pub_type: 杂志文章


    authors: Huang CC,Lu CS,Chu NS,Hochberg F,Lilienfeld D,Olanow W,Calne DB

    更新日期:1993-08-01 00:00:00

  • Ketotic hyperglycemia and epilepsia partialis continua.

    abstract::Epilepsia partialis continua (EPC) may occur during nonketotic hyperglycemia but has not been described with diabetic ketoacidosis. The authors report a patient with EPC associated with ketotic hyperglycemia. Brain MRI showed two areas of abnormal signal intensity in the left precentral gyrus and in the right cerebell...


    pub_type: 杂志文章


    authors: Placidi F,Floris R,Bozzao A,Romigi A,Baviera ME,Tombini M,Izzi F,Sperli F,Marciani MG

    更新日期:2001-08-14 00:00:00

  • Treatment of pseudobulbar affect in ALS with dextromethorphan/quinidine: a randomized trial.

    abstract:BACKGROUND:Patients with ALS commonly exhibit pseudobulbar affect. METHODS:The authors conducted a multicenter, randomized, double-blind, controlled, parallel, three-arm study to test a defined combination of dextromethorphan hydrobromide (DM) and quinidine sulfate (Q) (AVP-923) for the treatment of pseudobulbar affec...


    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验


    authors: Brooks BR,Thisted RA,Appel SH,Bradley WG,Olney RK,Berg JE,Pope LE,Smith RA,AVP-923 ALS Study Group.

    更新日期:2004-10-26 00:00:00

  • Electroencephalographic sleep patterns in post-anoxic stupor and coma.

    abstract::We analyzed EEGs performed over a 6-month period on patients with impaired consciousness following acute hypoxia or anoxia. There were 17 EEGs performed on 14 patients. Nine of the 17 records contained spindle activity. Spindles were present in 6/8 EEGs in stuporous patients, in 3/9 EEGs in comatose patients, in 6/10 ...


    pub_type: 杂志文章


    authors: Hulihan JF Jr,Syna DR

    更新日期:1994-04-01 00:00:00

  • Migraine and cardiovascular disease: possible mechanisms of interaction.

    abstract::Migraine, especially migraine with aura (MA), is an established risk factor for ischemic lesions of the brain. Recent evidence has also linked migraine to a broader range of ischemic vascular disorders including angina, myocardial infarction, coronary revascularization, claudication, and cardiovascular mortality. The ...


    pub_type: 杂志文章,评审


    authors: Bigal ME,Kurth T,Hu H,Santanello N,Lipton RB

    更新日期:2009-05-26 00:00:00

  • EEG in cough syncope.

    abstract::In 17 patients with cough syncope, electroencephalograms showed normal interictal recordings in 12 patients, minimally abnormal recordings in 4, and a moderately abnormal recording in 1. Fourteen episodes of cough syncope (six patients) were recorded, with the EEGs showing diffuse theta and delta slowing during the ep...


    pub_type: 杂志文章


    authors: DeMaria AA Jr,Westmoreland BF,Sharbrough FW

    更新日期:1984-03-01 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...


    pub_type: 临床试验,杂志文章,多中心研究,随机对照试验


    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

  • Prevalence of Parkinson's disease and other types of parkinsonism: a door-to-door survey in three Sicilian municipalities. The Sicilian Neuro-Epidemiologic Study (SNES) Group.

    abstract::We investigated the prevalence of Parkinson's disease and other types of parkinsonism in a Sicilian population using a door-to-door two-phase approach. This design called for the administration of a brief screening instrument to all subjects who, on November 1, 1987, were residents of Terrasini (Palermo Province), San...


    pub_type: 杂志文章


    authors: Morgante L,Rocca WA,Di Rosa AE,De Domenico P,Grigoletto F,Meneghini F,Reggio A,Savettieri G,Castiglione MG,Patti F

    更新日期:1992-10-01 00:00:00

  • Effects of breastfeeding in children of women taking antiepileptic drugs.

    abstract:BACKGROUND:Breastfeeding is known to have beneficial effects, but there is concern that breastfeeding during antiepileptic drug (AED) therapy may be harmful to cognitive development. Animal and human studies have demonstrated that some AEDs can adversely affect the immature brain. However, no investigation has examined...


    pub_type: 杂志文章,多中心研究


    authors: Meador KJ,Baker GA,Browning N,Clayton-Smith J,Combs-Cantrell DT,Cohen M,Kalayjian LA,Kanner A,Liporace JD,Pennell PB,Privitera M,Loring DW,NEAD Study Group.

    更新日期:2010-11-30 00:00:00

  • Meta-analysis of pharmacogenetic interactions in amyotrophic lateral sclerosis clinical trials.

    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...


    pub_type: 杂志文章,meta分析,评审


    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

  • Spasmodic dysphonia associated with a left ventrolateral putaminal lesion.

    abstract::A 34-year-old man presented with a 30-year history of spasmodic dysphonia. He developed a speech disturbance 1 month after a closed head injury due to a fall. Sighing, coughing, and crying were normal. He had a tremor of the right hand when he drew a vertical line. His out-stretched right hand had a minimal dystonic p...


    pub_type: 杂志文章


    authors: Lee MS,Lee SB,Kim WC

    更新日期:1996-09-01 00:00:00

  • Scanning electronmicroscopy of experimental anencephaly development.

    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...


    pub_type: 杂志文章


    authors: Smith MT,Wood LR,Honig SR

    更新日期:1982-09-01 00:00:00

  • Singing paraplegia: a distinctive manifestation of a spinal dural arteriovenous fistula.

    abstract::The unique case of a baritone with a spinal dural arteriovenous fistula (SDAVF) causing recurrent, acute paraplegia during singing is described. This case underscores the presence of impaired venous drainage in these lesions and the high level of clinical suspicion required for their diagnosis in patients with any mye...


    pub_type: 杂志文章


    authors: Khurana VG,Perez-Terzic CM,Petersen RC,Krauss WE

    更新日期:2002-04-23 00:00:00

  • Accuracy of family history data on Parkinson's disease.

    abstract:BACKGROUND:Genetic studies of PD frequently rely on family history interviews (FHI), yet the accuracy of data obtained in this way is unclear. OBJECTIVE:To assess the interinformant reliability and validity of family history information on PD in first-degree relatives of PD cases and controls. METHODS:A structured FH...


    pub_type: 杂志文章


    authors: Marder K,Levy G,Louis ED,Mejia-Santana H,Cote L,Andrews H,Harris J,Waters C,Ford B,Frucht S,Fahn S,Ottman R

    更新日期:2003-07-08 00:00:00

  • Levodopa pharmacokinetics and pharmacodynamics in fluctuating parkinsonian patients.

    abstract::We investigated levodopa intravenous infusion rates, plasma concentrations, and clinical responses in 23 parkinsonian patients with a fluctuating response to the drug. There was a linear relationship between rate of levodopa infusion and plasma concentration when carbidopa was coadministered. Minimum-therapeutically e...


    pub_type: 杂志文章


    authors: Nutt JG,Woodward WR

    更新日期:1986-06-01 00:00:00

  • Cabergoline in Parkinson's disease: long-term follow-up.

    abstract::We treated 36 patients with motor fluctuations and dyskinesias on chronic levodopa therapy with cabergoline (CBG) once a day for a mean period of 14.2 +/- 5.8 months. There was a significant increase in the "on" hours and a reduction in "off-period" dystonia. Ten patients continued to show a marked improvement after 2...


    pub_type: 杂志文章


    authors: Lera G,Vaamonde J,Rodriguez M,Obeso JA

    更新日期:1993-12-01 00:00:00

  • 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...


    pub_type: 杂志文章


    authors: Stone DA,Laureno R

    更新日期:1991-01-01 00:00:00

  • Prolonged partial complex status epilepticus: EEG and behavioral observations.

    abstract::Four prolonged episodes of partial complex status epilepticus were observed in a teenaged girl. During each there was an "ictal" phase, in which her mental state frequently fluctuated between mildly clouded consciousness and almost total unresponsiveness; once, she was also blind during this phase of impaired consciou...


    pub_type: 杂志文章


    authors: Engel J Jr,Ludwig BI,Fetell M

    更新日期:1978-09-01 00:00:00

  • Network dysfunction predicts speech production after left hemisphere stroke.

    abstract:OBJECTIVE:To investigate the role of multiple distributed brain networks, including the default mode, fronto-temporo-parietal, and cingulo-opercular networks, which mediate domain-general and task-specific processes during speech production after aphasic stroke. METHODS:We conducted an observational functional MRI stu...


    pub_type: 杂志文章


    authors: Geranmayeh F,Leech R,Wise RJS

    更新日期:2016-04-05 00:00:00

  • Medial plantar neuropathy.

    abstract::We have described four cases of medial plantar neuropathy that was confirmed by the near-nerve sensory nerve conduction study. The common compression site in medial plantar neuropathy is at the entrance to the fibromuscular tunnel behind the navicular tuberosity, distal to the tarsal tunnel, where Tinel's sign is loca...


    pub_type: 杂志文章


    authors: Oh SJ,Lee KW

    更新日期:1987-08-01 00:00:00

  • Thalamic glutamate/glutamine in restless legs syndrome: increased and related to disturbed sleep.

    abstract:OBJECTIVE:To evaluate possible abnormal increase in thalamic glutamate/glutamine levels for restless legs syndrome (RLS) indicating increased glutamatergic activity producing arousal that at night disrupts and shortens sleep. METHODS:(1)H MRS of the right thalamus was performed using a 1.5 T GE MRI scanner and the PRO...


    pub_type: 杂志文章


    authors: Allen RP,Barker PB,Horská A,Earley CJ

    更新日期:2013-05-28 00:00:00