Peripheral neuropathy in vanishing white matter disease with a novel EIF2B5 mutation.


:The authors describe an infant with vanishing white matter disease with demyelinating peripheral neuropathy. Sequence analysis of EIF2B5 gene showed that the patient was a double heterozygote, with novel missense mutation CGA-->CAA in codon 269 of exon 6, resulting in the replacement of an arginine residue with glutamine.






Federico A,Scali O,Stromillo ML,Di Perri C,Bianchi S,Sicurelli F,De Stefano N,Malandrini A,Dotti MT




Has Abstract


2006-07-25 00:00:00














  • Response to cancer therapy in a patient with a paraneoplastic choreiform disorder.

    abstract::The authors report a patient with chorea and multifocal neurologic abnormalities associated with a small-cell lung carcinoma. A previously unreported antibody directed at a 76-kD neuronal protein antigen was identified in both serum and CSF. Antitumor treatment resulted in dramatic and sustained clinical neurologic an...


    pub_type: 杂志文章,评审


    authors: Croteau D,Owainati A,Dalmau J,Rogers LR

    更新日期:2001-08-28 00:00:00

  • Accuracy of family history information on epilepsy and other seizure disorders.

    abstract:BACKGROUND:In epilepsy as in other disorders, family history information is often obtained by asking patients about the medical histories of their relatives rather than interviewing or examining the relatives directly. The accuracy of this type of information for epilepsy and other seizure disorders is unclear. METHOD...


    pub_type: 杂志文章


    authors: Ottman R,Barker-Cummings C,Leibson CL,Vasoli VM,Hauser WA,Buchhalter JR

    更新日期:2011-01-25 00:00:00

  • Reciprocal inhibition in cerebral palsy.

    abstract::We studied reciprocal inhibition by recording the changes in firing probability of single motor units of the tibialis anterior muscle following stimulation of low-threshold afferents in the posterior tibial nerve. In 15 patients with cerebral palsy, the inhibition was as great or greater than normal. We found no evide...


    pub_type: 杂志文章


    authors: Berbrayer D,Ashby P

    更新日期:1990-04-01 00:00:00

  • 3-O-methyldopa and motor fluctuations in Parkinson's disease.

    abstract::High plasma levels of 3-O-methyldopa (OMD) were found in parkinsonian patients chronically treated with levodopa, particularly in those with on-off phenomenon. However, no relation could be established between circulating levels of the levodopa metabolite and the presence of motor response fluctuations at any stage of...


    pub_type: 杂志文章


    authors: Fabbrini G,Juncos JL,Mouradian MM,Serrati C,Chase TN

    更新日期:1987-05-01 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

  • CSF detection of the 14-3-3 protein in unselected patients with dementia.

    abstract:OBJECTIVE:To determine the usefulness of the 14-3-3 test in patients with dementia of various causes. BACKGROUND:Recent reports have suggested that the detection of the 14-3-3 protein in the CSF of patients with Creutzfeldt--Jakob disease is a highly sensitive and specific marker of the disease that might be used as a...


    pub_type: 杂志文章


    authors: Burkhard PR,Sanchez JC,Landis T,Hochstrasser DF

    更新日期:2001-06-12 00:00:00

  • A PET study of photophobia during spontaneous migraine attacks.

    abstract:BACKGROUND:Photophobia is an abnormal sensitivity to light experienced by migraineurs during attacks. The pathophysiology of photophobia is poorly understood. Nevertheless, 2 facts appear to have a link with photophobia: visual cortex hyperexcitability on the one hand and interactions between visual pathway and trigemi...


    pub_type: 杂志文章


    authors: Denuelle M,Boulloche N,Payoux P,Fabre N,Trotter Y,Géraud G

    更新日期:2011-01-18 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...


    pub_type: 杂志文章


    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

  • Long-lasting conduction block in hereditary neuropathy with liability to pressure palsies.

    abstract::We detected 29 conduction blocks in 12 patients with hereditary neuropathy and liability to pressure palsies. The blocks occurred at entrapment sites, most often the ulnar nerve at the elbow. Some had lasted for several years. This kind of block seems to be characteristic of the neuropathy, and may be related to the l...


    pub_type: 杂志文章


    authors: Magistris MR,Roth G

    更新日期:1985-11-01 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

  • APOE genotype and survival in men and women with Alzheimer's disease.

    abstract:BACKGROUND:The epsilon 4 allele of the APOE gene (APOE) is more frequent in patients with AD than in the general population, but studies are inconclusive as to whether it affects rate of progression or survival. Because survival in AD is generally longer in women than in men, the authors investigated whether APOE affec...


    pub_type: 杂志文章


    authors: Dal Forno G,Carson KA,Brookmeyer R,Troncoso J,Kawas CH,Brandt J

    更新日期:2002-04-09 00:00:00

  • Dietary treatment in adults with refractory epilepsy: a review.

    abstract::We review adjunctive ketogenic diet (KD) and modified Atkins diet (MAD) treatment of refractory epilepsy in adults. Only a few studies have been published, all open-label. Because of the disparate, uncontrolled nature of the studies, we analyzed all studies individually, without a meta-analysis. Across all studies, 32...


    pub_type: 杂志文章,评审


    authors: Klein P,Tyrlikova I,Mathews GC

    更新日期:2014-11-18 00:00:00

  • Miller Fisher syndrome and Haemophilus influenzae infection.

    abstract:OBJECTIVE:To examine the association between Miller Fisher syndrome (MFS) and antecedent Haemophilus influenzae infection. BACKGROUND:Little is known about agents in prior respiratory tract infection of MFS, whereas antecedent upper respiratory symptoms are frequent. H. influenzae is a major pathogen that can cause hu...


    pub_type: 杂志文章


    authors: Koga M,Yuki N,Tai T,Hirata K

    更新日期:2001-08-28 00:00:00

  • Cognitive deficits of pure subcortical vascular dementia vs. Alzheimer disease: PiB-PET-based study.

    abstract:OBJECTIVES:Despite many neuropsychological studies to differentiate subcortical vascular dementia (SVaD) from Alzheimer disease (AD), previous studies did not eliminate confounding effects of mixed Alzheimer and vascular pathology. We aimed to investigate neuropsychological differences between patients with Pittsburgh ...


    pub_type: 杂志文章


    authors: Yoon CW,Shin JS,Kim HJ,Cho H,Noh Y,Kim GH,Chin JH,Oh SJ,Kim JS,Choe YS,Lee KH,Lee JH,Seo SW,Na DL

    更新日期:2013-02-05 00:00:00

  • Neuroleptic malignant syndrome: a unique association with a tricyclic antidepressant.

    abstract::We report the lst case of neuroleptic malignant syndrome occurring in a patient receiving desipramine, a tricyclic antidepressant, with no exposure to neuroleptics. Our case suggests that this syndrome may be caused by a central imbalance between norepinephrine and dopamine, and not by dopamine depletion alone. ...


    pub_type: 杂志文章


    authors: Baca L,Martinelli L

    更新日期:1990-11-01 00:00:00

  • Primary intramedullary spinal cord lymphoma.

    abstract:OBJECTIVE:Among the rare causes of myelopathies is primary intramedullary spinal cord lymphoma (PISCL). As PISCL is often underrecognized, delaying appropriate treatment, we sought to describe its presentation, imaging characteristics, and outcomes. METHODS:Mayo Clinic medical records, lymphoma database, and autopsies...


    pub_type: 杂志文章


    authors: Flanagan EP,O'Neill BP,Porter AB,Lanzino G,Haberman TM,Keegan BM

    更新日期:2011-08-23 00:00:00

  • Functional MRI-BOLD of brainstem structures during visually triggered migraine.

    abstract:BACKGROUND:Previously, hyperoxia and blood volume increase were reported in the red nucleus and substantia nigra during spontaneous migraine with aura. OBJECTIVE:To further understand the pathophysiologic role of these centers, activation of brainstem structures was investigated in patients with visually triggered mig...


    pub_type: 杂志文章


    authors: Cao Y,Aurora SK,Nagesh V,Patel SC,Welch KM

    更新日期:2002-07-09 00:00:00

  • Most cases of dementia with hippocampal sclerosis may represent frontotemporal dementia.

    abstract::Hippocampal sclerosis dementia (HSD) is a disease of unknown etiology and pathogenesis. To determine whether HSD cases could be reclassified as variants of frontotemporal dementia (FTD), a heterogeneous group of disorders, 18 brain autopsy cases previously diagnosed as HSD were re-evaluated. In 11 cases, ubiquitinated...


    pub_type: 杂志文章,评审


    authors: Hatanpaa KJ,Blass DM,Pletnikova O,Crain BJ,Bigio EH,Hedreen JC,White CL 3rd,Troncoso JC

    更新日期:2004-08-10 00:00:00

  • Auditory and tactile processing in a postmeningitic deaf-blind patient with a cochlear implant.

    abstract::The authors examined the neural function of a postmeningitic deaf-blind patient who regained his hearing with a multichannel cochlear implant. Auditory stimuli activated the temporal cortices of both sides in a manner similar to that of controls, reflecting the successful recruitment of the auditory cortex after impla...


    pub_type: 杂志文章


    authors: Osaki Y,Takasawa M,Doi K,Nishimura H,Iwaki T,Imaizumi M,Oku N,Hatazawa J,Kubo T

    更新日期:2006-09-12 00:00:00

  • Familial progressive bulbar and spinal muscular atrophy. Juvenile onset and late morbidity with ragged-red fibers.

    abstract::Six members of a family had a neurologic disease with autosomal dominant transmission and adolescent onset of progressive wasting of predominantly distal axial muscles and muscles innervated by cranial nerves V, VII, X, and XII, leading to severe morbidity in adulthood. Muscle biopsy of the propositus revealed "ragged...


    pub_type: 杂志文章


    authors: Dobkin BH,Verity MA

    更新日期:1976-08-01 00:00:00

  • Refractory status epilepticus in children with and without prior epilepsy or status epilepticus.

    abstract:OBJECTIVE:To compare refractory convulsive status epilepticus (rSE) management and outcome in children with and without a prior diagnosis of epilepsy and with and without a history of status epilepticus (SE). METHODS:This was a prospective observational descriptive study performed from June 2011 to May 2016 on pediatr...


    pub_type: 杂志文章,多中心研究


    authors: Sánchez Fernández I,Jackson MC,Abend NS,Arya R,Brenton JN,Carpenter JL,Chapman KE,Gaillard WD,Gaínza-Lein M,Glauser TA,Goldstein JL,Goodkin HP,Helseth A,Kapur K,McDonough TL,Mikati MA,Peariso K,Riviello J Jr,Tasker RC

    更新日期:2017-01-24 00:00:00

  • Motor activation in multiple system atrophy and Parkinson disease: a PET study.

    abstract:BACKGROUND:Multiple system atrophy (MSA) is an atypical parkinsonian syndrome including cerebellar impairment and poor response to levodopa. We assessed right hand motor activation in patients with MSA before and after an acute levodopa challenge in comparison with patients with PD and healthy volunteers (HVs). METHOD...


    pub_type: 杂志文章


    authors: Payoux P,Brefel-Courbon C,Ory-Magne F,Regragui W,Thalamas C,Balduyck S,Durif F,Azulay JP,Tison F,Blin O,Esquerre JP,Rascol O

    更新日期:2010-09-28 00:00:00

  • Diagnosis of vestibular imbalance in the blink of an eye.

    abstract:BACKGROUND:In a recent study, the authors found that blinks in healthy volunteers always triggered ocular torsion quick phases during dynamic roll movements of the head. On the basis of this observation, they hypothesized that blinks in patients with a vestibular tone imbalance would also trigger torsional quick phases...


    pub_type: 杂志文章


    authors: Schneider E,Glasauer S,Dieterich M,Kalla R,Brandt T

    更新日期:2004-10-12 00:00:00

  • Epidemiology of brain tumors: the national survey of intracranial neoplasms.

    abstract::A national survey, based on a probability sample of patients admitted to short-term hospitals in the United States during 1973 to 1974 with a discharge diagnosis of an intracranial neoplasm, was conducted in 157 hospitals. The annual incidence was estimated at 17,000 for primary intracranial neoplasms and 17,400 for s...


    pub_type: 杂志文章


    authors: Walker AE,Robins M,Weinfeld FD

    更新日期:1985-02-01 00:00:00

  • Does adding MS-specific items to a generic measure (the SF-36) improve measurement?

    abstract:OBJECTIVE:The 36-item Short Form Health Survey Questionnaire (SF-36) is a widely used generic health status measure. Recently it has been adapted to produce a disease-specific measure for MS-the 54-item Multiple Sclerosis Quality of Life Scale (MSQOL-54)-composed of five unchanged SF-36 scales; three altered SF-36 scal...


    pub_type: 杂志文章


    authors: Freeman JA,Hobart JC,Thompson AJ

    更新日期:2001-07-10 00:00:00

  • A preliminary MRI study of the geometry of brain displacement and level of consciousness with acute intracranial masses.

    abstract::We determined the horizontal and vertical components of brain displacement on coronal MRIs in 10 patients with acute supratentorial masses. The vertical distances from the superior sagittal sinus to the pontomesencephalic junction (PMJ) and from the vertical midline of the brain to the PMJ did not differ from measurem...


    pub_type: 杂志文章


    authors: Ropper AH

    更新日期:1989-05-01 00:00:00

  • Antisaccade task reflects cortical involvement in mild cognitive impairment.

    abstract:OBJECTIVE:The aims of this study were to examine executive dysfunction using an antisaccade (AS) task in normal elderly (NE) and patients with mild cognitive impairment (MCI) and Alzheimer disease (AD) as well as to evaluate the relationship between AS performance and cortical thinning within AD-associated regions. ME...


    pub_type: 杂志文章


    authors: Heuer HW,Mirsky JB,Kong EL,Dickerson BC,Miller BL,Kramer JH,Boxer AL

    更新日期:2013-10-01 00:00:00

  • Transient drug-induced abolition of BAEPs in coma.

    abstract::Combined infusion of high doses of lidocaine and thiopental in a comatose patient induced major latency and amplitude BAEP changes, which progressed to complete BAEP abolition. Responses returned to normal after drugs were discontinued. EEGs during the episodes showed long-lasting periods of activity suppression, but ...


    pub_type: 杂志文章


    authors: García-Larrea L,Artru F,Bertrand O,Pernier J,Mauguière F

    更新日期:1988-09-01 00:00:00

  • Identification, causation, alleviation, and prevention of complications (ICAP): an approach to symptom and disability management in multiple sclerosis.

    abstract::Comprehensive management of patients with multiple sclerosis (MS) includes treatment to modify the disease course and interventions to address the persistent symptoms and consequences of this chronic illness, which can affect patients for decades. Although much excitement and attention accompanies new therapeutic init...


    pub_type: 杂志文章


    authors: Cohen BA

    更新日期:2008-12-09 00:00:00

  • Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?

    abstract:OBJECTIVE:To examine metabolism during exercise in 2 patients with muscle phosphorylase kinase (PHK) deficiency and to further define the phenotype of this rare glycogen storage disease (GSD). METHODS:Patient 1 (39 years old) had mild exercise-induced forearm pain, and EMG showed a myopathic pattern. Patient 2 (69 yea...


    pub_type: 杂志文章


    authors: Preisler N,Orngreen MC,Echaniz-Laguna A,Laforet P,Lonsdorfer-Wolf E,Doutreleau S,Geny B,Akman HO,Dimauro S,Vissing J

    更新日期:2012-01-24 00:00:00