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












  • Individual differences in endogenous pain modulation as a risk factor for chronic pain.

    abstract::This review summarizes evidence, primarily from recent human studies, indirectly supporting a novel hypothesis: that the assessment of healthy individuals' responses to standardized noxious stimuli in a controlled laboratory environment has important implications for the later risk of developing a broad spectrum of ch...


    pub_type: 杂志文章,评审


    authors: Edwards RR

    更新日期:2005-08-09 00:00:00

  • Long-term experience with selegiline and levodopa in Parkinson's disease.

    abstract::Between 1982 and 1989, 197 patients with Parkinson's disease were treated with selegiline and levodopa for at least 0.3 years. Two groups of patients were included: a group of 65 patients (stage 2 or 3 on the Hoehn and Yahr Scale) who recently had been started on levodopa and were not experiencing response fluctuation...


    pub_type: 杂志文章


    authors: Lieberman A

    更新日期:1992-04-01 00:00:00

  • Interrater reliability in the neuropathologic diagnosis of Alzheimer's disease.

    abstract::Three neuropathologists evaluated brain sections from 43 aged subjects for the presence of Alzheimer's disease. Moderate-to-substantial agreement was obtained. After discussion of disparate diagnoses, agreement was almost perfect for standardized and substantial for personal criteria. We conclude that reproducibility ...


    pub_type: 杂志文章


    authors: Paulus W,Bancher C,Jellinger K

    更新日期:1992-02-01 00:00:00

  • The functional anatomy of gaze-evoked tinnitus and sustained lateral gaze.

    abstract:OBJECTIVE:To identify neural sites associated with gaze-evoked tinnitus (GET), an unusual condition that may follow cerebellar-pontine angle surgery. METHODS:The authors examined eight patients with GET and used PET to map the neural sites activated by lateral gaze in them and seven age- and sex-matched control subjec...


    pub_type: 杂志文章


    authors: Lockwood AH,Wack DS,Burkard RF,Coad ML,Reyes SA,Arnold SA,Salvi RJ

    更新日期:2001-02-27 00:00:00

  • Homocysteine and progression of generalized small-vessel disease: the SMART-MR Study.

    abstract:OBJECTIVES:Assuming the involvement of homocysteine in a generalized small-vessel disease, we investigated the association of homocysteine levels with progression of white matter lesions, lacunar infarcts, and kidney disease. METHODS:Within the SMART-MR (Second Manifestations of ARTerial disease-Magnetic Resonance) St...


    pub_type: 杂志文章


    authors: Kloppenborg RP,Geerlings MI,Visseren FL,Mali WP,Vermeulen M,van der Graaf Y,Nederkoorn PJ,SMART Study Group.

    更新日期:2014-03-04 00:00:00

  • Evaluation of essential tremor with multi-voxel magnetic resonance spectroscopy.

    abstract::The pathologic substrate of essential tremor (ET) remains unknown. The authors studied 10 patients with ET and 10 volunteers using a multislice MR spectroscopy imaging sequence. Left and right cerebellar hemisphere NAA/CR and NAA/Cho ratios were significantly smaller in the ET patients than healthy subjects. The autho...


    pub_type: 杂志文章


    authors: Pagan FL,Butman JA,Dambrosia JM,Hallett M

    更新日期:2003-04-22 00:00:00

  • Regional metabolic correlates of Token test results in cortical and subcortical left hemispheric infarction.

    abstract::We investigated 26 right-handed patients who had aphasia caused by a single infarct in the territory of the left middle cerebral artery (MCA) with cranial CT, positron emission tomography, and a standard language test battery including the Token test. The patients represented an unselected sample of various infarct lo...


    pub_type: 杂志文章


    authors: Karbe H,Herholz K,Szelies B,Pawlik G,Wienhard K,Heiss WD

    更新日期:1989-08-01 00:00:00

  • Abnormal perception of vibration-induced illusion of movement in dystonia.

    abstract:OBJECTIVES:To examine the illusional sensation of movement evoked by vibration of an immobilized arm. METHODS:Patients with idiopathic focal dystonia were compared with those with idiopathic PD and with patients with dystonia secondary to PD. A 100-Hz transcutaneous vibratory stimulus was applied to the biceps brachii...


    pub_type: 杂志文章


    authors: Rome S,Grünewald RA

    更新日期:1999-11-10 00:00:00

  • Sensitivity and specificity of FTDC criteria for behavioral variant frontotemporal dementia.

    abstract:OBJECTIVE:We aimed to assess sensitivity and specificity of the updated criteria for behavioral variant frontotemporal dementia (bvFTD) based on a large autopsy-confirmed cohort of patients with dementia. METHODS:Two hundred thirty-nine consecutive pathologically confirmed dementia patients, clinically assessed in a s...


    pub_type: 杂志文章


    authors: Harris JM,Gall C,Thompson JC,Richardson AM,Neary D,du Plessis D,Pal P,Mann DM,Snowden JS,Jones M

    更新日期:2013-05-14 00:00:00

  • Norming plans for the NIH Toolbox.

    abstract:OBJECTIVE:The NIH Toolbox for Assessment of Neurological and Behavioral Function (NIH Toolbox) is a comprehensive battery of brief assessment tools. The purpose of this article is to describe plans to establish normative reference values for the NIH Toolbox measures. METHODS:A large sample will be obtained from the US...


    pub_type: 杂志文章


    authors: Beaumont JL,Havlik R,Cook KF,Hays RD,Wallner-Allen K,Korper SP,Lai JS,Nord C,Zill N,Choi S,Yost KJ,Ustsinovich V,Brouwers P,Hoffman HJ,Gershon R

    更新日期:2013-03-12 00:00:00

  • Familial temporal lobe epilepsy with febrile seizures.

    abstract::Described are the clinical, EEG, MR, and genetic characteristics of 106 members of a family with autosomal dominant temporal lobe epilepsy (TLE) and febrile seizures (FS), with 22 affected individuals. Eleven patients had a history of FS, and 10 patients had TLE. EEG showed epileptic activity in five. None had hippoca...


    pub_type: 杂志文章


    authors: Depondt C,Van Paesschen W,Matthijs G,Legius E,Martens K,Demaerel P,Wilms G

    更新日期:2002-05-14 00:00:00

  • Involvement of the human pedunculopontine nucleus region in voluntary movements.

    abstract:OBJECTIVE:The pedunculopontine nucleus region (PPNR) is being investigated as a target for deep brain stimulation (DBS) in Parkinson disease (PD), particularly for gait and postural impairment. A greater understanding of how PPNR activities and oscillations are modulated with voluntary movements is crucial to the devel...


    pub_type: 杂志文章


    authors: Tsang EW,Hamani C,Moro E,Mazzella F,Poon YY,Lozano AM,Chen R

    更新日期:2010-09-14 00:00:00

  • Diagnostic utility of abbreviated fluency measures in Alzheimer disease and vascular dementia.

    abstract:BACKGROUND:Several studies indicate semantic fluency more sensitively discriminates patients with Alzheimer disease (AD) from normal elderly persons, with disproportionate impairment of semantic over phonemic fluency. OBJECTIVE:To determine the ability of abbreviated fluency measures in the clinic setting (1-minute le...


    pub_type: 杂志文章


    authors: Canning SJ,Leach L,Stuss D,Ngo L,Black SE

    更新日期:2004-02-24 00:00:00

  • Acute late-onset encephalopathy after radiotherapy: an unusual life-threatening complication.

    abstract::Unusual late-onset complications of brain irradiation, characterized by reversible neurologic focal signs, seizures, and MRI alterations, have recently been reported and classified as stroke-like migraine attacks after radiation therapy (SMART)(1) and peri-ictal pseudoprogression (PIPG).(2.) ...


    pub_type: 杂志文章


    authors: Di Stefano AL,Berzero G,Vitali P,Galimberti CA,Ducray F,Ceroni M,Bastianello S,Colombo AA,Simoncelli A,Brunelli MC,Giometto B,Diamanti L,Gaviani P,Salmaggi A,Silvani A,Marchioni E

    更新日期:2013-09-10 00:00:00

  • Human herpesvirus 8 DNA in CNS lymphomas from patients with and without AIDS.

    abstract:BACKGROUND AND OBJECTIVE:Human herpesvirus 8 (HHV-8) has been found in association with Kaposi's sarcomas in human immunodeficiency virus (HIV)-positive and -negative patients, primary effusion lymphomas (PELs), multicentric Castleman's disease, and multiple myeloma. The PELs share several features with acquired immuno...


    pub_type: 杂志文章


    authors: Corboy JR,Garl PJ,Kleinschmidt-DeMasters BK

    更新日期:1998-02-01 00:00:00

  • CT angiography spot sign in intracerebral hemorrhage predicts active bleeding during surgery.

    abstract:OBJECTIVE:To determine whether the CT angiography (CTA) spot sign marks bleeding complications during and after surgery for spontaneous intracerebral hemorrhage (ICH). METHODS:In a 2-center study of consecutive spontaneous ICH patients who underwent CTA followed by surgical hematoma evacuation, 2 experienced readers (...


    pub_type: 杂志文章,多中心研究


    authors: Brouwers HB,Raffeld MR,van Nieuwenhuizen KM,Falcone GJ,Ayres AM,McNamara KA,Schwab K,Romero JM,Velthuis BK,Viswanathan A,Greenberg SM,Ogilvy CS,van der Zwan A,Rinkel GJ,Goldstein JN,Klijn CJ,Rosand J

    更新日期:2014-09-02 00:00:00

  • Familial 'sleep apnea plus' syndrome: report of a family.

    abstract::We describe a familial disorder consisting of sleep apnea, anosmia, colorblindness, partial complex seizures, and cognitive dysfunction. The phenotypic expression of the syndrome suggests an autosomal dominant inheritance with incomplete penetrance. ...


    pub_type: 杂志文章


    authors: Manon-Espaillat R,Gothe B,Adams N,Newman C,Ruff R

    更新日期:1988-02-01 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

  • Extracranial-intracranial bypass surgery: hemodynamic and metabolic effects.

    abstract::After superficial temporal artery-middle cerebral artery bypass, cerebral blood flow (CBF) in the operated hemisphere increased in 6 of 17 patients. Preoperatively, the symptomatic hemisphere showed lower CBF in all six, lower oxygen metabolism in five, higher blood volume in four, and higher oxygen extraction in two....


    pub_type: 杂志文章


    authors: Powers WJ,Martin WR,Herscovitch P,Raichle ME,Grubb RL Jr

    更新日期:1984-09-01 00:00:00

  • Reversibility of human myopathy caused by vitamin E deficiency.

    abstract::Although a neuromuscular syndrome has been induced experimentally by vitamin E deficiency, a human syndrome has not yet been documented. This report describes a 7-year-old boy with severe malabsorption since birth who presented with progressive external ophthalmoplegia, proximal muscle weakness, peripheral neuropathy,...


    pub_type: 杂志文章


    authors: Tomasi LG

    更新日期:1979-08-01 00:00:00

  • Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex.

    abstract:OBJECTIVE:The purpose of this study was to assess the prevalence of and to identify epidemiologic, genetic, electrophysiologic, and neuroanatomic risk factors for autism spectrum disorders (ASD) in a cohort of patients with tuberous sclerosis complex (TSC). METHODS:A total of 103 patients with TSC were evaluated for A...


    pub_type: 杂志文章


    authors: Numis AL,Major P,Montenegro MA,Muzykewicz DA,Pulsifer MB,Thiele EA

    更新日期:2011-03-15 00:00:00

  • A variant of the anti-Purkinje cell antibody in a patient with paraneoplastic cerebellar degeneration.

    abstract::An anti-Purkinje cell antibody was found in the serum and CSF of a man with adenocarcinoma of the lung and paraneoplastic cerebellar degeneration (PCD). This antibody differed from the autoantibodies found in patients with gynecologic cancer and PCD in that it produced a different pattern of Purkinje cell cytoplasmic ...


    pub_type: 杂志文章,评审


    authors: Anderson NE,Budde-Steffen C,Wiley RG,Thurman L,Rosenblum MK,Nadeau SE,Posner JB

    更新日期:1988-07-01 00:00:00

  • Selective deficit of praxis imagery in ideomotor apraxia.

    abstract::We studied imagery for learned, skilled movements (praxis imagery) in a patient with severe ideomotor apraxia and intact language abilities. This patient, who made predominantly spatial and movement errors when performing transitive movements demonstrating the use of tools (transitive gestures), was also impaired in h...


    pub_type: 杂志文章


    authors: Ochipa C,Rapcsak SZ,Maher LM,Rothi LJ,Bowers D,Heilman KM

    更新日期:1997-08-01 00:00:00

  • MEG localization of language-specific cortex utilizing MR-FOCUSS.

    abstract:OBJECTIVE:To demonstrate noninvasive localization of cognitive cortical areas involved in language processing with magnetoencephalography (MEG) interpreted by multiresolution FOCUSS (MR-FOCUSS), a current density imaging technique. METHOD:MEG data were collected during verb-generation and picture-naming tasks from 18 ...


    pub_type: 杂志文章


    authors: Bowyer SM,Moran JE,Mason KM,Constantinou JE,Smith BJ,Barkley GL,Tepley N

    更新日期:2004-06-22 00:00:00

  • How did stroke become of interest to neurologists?: a slow 19th century saga.

    abstract::It was not until the first half of the 19th century that the vascular nature of strokes was readily recognized and accepted. Brain "softenings" were distinguished from hemorrhagic "apoplexy," but stroke etiology remained unstudied. The terms artherosclerosis, thrombosis, embolism, and lacune were introduced to indicat...


    pub_type: 历史文章,杂志文章


    authors: Paciaroni M,Bogousslavsky J

    更新日期:2009-09-01 00:00:00

  • A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.

    abstract:OBJECTIVE:To assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC). METHODS:We performed detailed clinical and electrophysiologic characterization in 60 patients with phenotypes consistent with MC. DNA sequencing of CLCN1 followed by multiplex ligation-dependent p...


    pub_type: 杂志文章


    authors: Raja Rayan DL,Haworth A,Sud R,Matthews E,Fialho D,Burge J,Portaro S,Schorge S,Tuin K,Lunt P,McEntagart M,Toscano A,Davis MB,Hanna MG

    更新日期:2012-06-12 00:00:00

  • Rapsyn mutations in hereditary myasthenia: distinct early- and late-onset phenotypes.

    abstract::Rapsyn mutations in 16 unrelated patients with a congenital/hereditary myasthenic syndrome were identified, and a mutation (N88K) common to each of them was found. Two distinct phenotypes were noted: early and late onset. The former is frequently associated with arthrogryposis multiplex congenita and life-threatening ...


    pub_type: 杂志文章


    authors: Burke G,Cossins J,Maxwell S,Owens G,Vincent A,Robb S,Nicolle M,Hilton-Jones D,Newsom-Davis J,Palace J,Beeson D

    更新日期:2003-09-23 00:00:00

  • Stem cell therapy in ischemic stroke: role of IV and intra-arterial therapy.

    abstract:OBJECTIVE:Cell-based therapies are being investigated as an adjunct to IV thrombolysis or mechanical thrombectomy in ischemic stroke. This review summarizes the potential applications as well as challenges of intravascular cell delivery in ischemic stroke. METHOD:We conducted a search of Medline as well as the clinica...


    pub_type: 杂志文章,评审


    authors: Misra V,Ritchie MM,Stone LL,Low WC,Janardhan V

    更新日期:2012-09-25 00:00:00

  • Coma with triphasic wave pattern in EEG as a complication of temporal arteritis.

    abstract::Coma is rare in temporal arteritis (TA). We describe a patient with TA who suddenly developed coma with a triphasic EEG pattern that resolved after initiation of steroid treatment. Although the arterial lesions in TA are segmental in nature, TA may present with signs of diffuse neurologic deficit; early treatment can ...


    pub_type: 杂志文章


    authors: Tomer Y,Neufeld MY,Shoenfeld Y

    更新日期:1992-02-01 00:00:00

  • Safety and long-term efficacy of ventro-oral thalamotomy for focal hand dystonia: A retrospective study of 171 patients.

    abstract:OBJECTIVE:To report the safety and long-term efficacy of ventro-oral thalamotomy for 171 consecutive patients with task-specific focal hand dystonia. METHODS:Between October 2003 and February 2017, 171 consecutive patients with task-specific focal hand dystonia underwent unilateral ventro-oral thalamotomy. Etiologies ...


    pub_type: 杂志文章


    authors: Horisawa S,Ochiai T,Goto S,Nakajima T,Takeda N,Fukui A,Hanada T,Kawamata T,Taira T

    更新日期:2019-01-22 00:00:00