Missense exchanges in the TTBK2 gene mutated in SCA11.

abstract：:Fingolimod safety and efficacy data in relapsing-remitting multiple sclerosis (RRMS) are available up to 5 years, from an extension of a randomized, placebo-controlled, double-blind, phase 2 study, at a dose higher (5.0/1.25 mg) than the approved dose of 0.5 mg. The objective of the study is to present the end-of-stud...

journal_title：Journal of neurology

authors： Montalban X,Comi G,Antel J,O'Connor P,de Vera A,Cremer M,Sfikas N,von Rosenstiel P,Kappos L

更新日期：2015-12-01 00:00:00

abstract：:The INCOMIN study (INdependent COMparison of INterferons) lends further support to the growing body of evidence that both dose and frequency of interferon beta (IFNbeta) administration are important in the treatment of multiple sclerosis (MS). High-dose, high-frequency IFNbeta (IFNbeta-1b 250 microg eod sc and IFNbeta...

journal_title：Journal of neurology

authors： Durelli L,Clerico M

更新日期：2005-09-01 00:00:00

abstract：:Stavudine (2',3'-didehydro-3'deoxythymidine) is a pyrimidine analogue that may be of great value in combination antiretroviral therapy (ART) for treating patients infected with human immunodeficiency virus type 1 (HIV-1). We assessed potential neurotoxic side effects by comparing peripheral nerve function in patients ...

journal_title：Journal of neurology

authors： von Giesen HJ,Hefter H,Jablonowski H,Arendt G

更新日期：1999-03-01 00:00:00

abstract：OBJECTIVE:To report the clinical features and long-term outcome of 22 newly diagnosed paraneoplastic patients with GABAB receptor antibodies (GABABR-Abs). METHODS:Retrospective clinical study of CSF-confirmed cases of GABABR-Abs encephalitis. RESULTS:We identified 22 patients (4 female) with GABABR-Abs, with a median...

journal_title：Journal of neurology

authors： Maureille A,Fenouil T,Joubert B,Picard G,Rogemond V,Pinto AL,Thomas L,Ducray F,Quadrio I,Psimaras D,Berzero G,Antoine JC,Desestret V,Honnorat J

更新日期：2019-01-01 00:00:00

abstract：:Two patients with chorea and polycythaemia vera are described. The literature on this rare association is reviewed and its pathophysiology discussed. ...

journal_title：Journal of neurology

authors： Mas JL,Gueguen B,Bouche P,Derouesné C,Varet B,Castaigne P

更新日期：1985-01-01 00:00:00

abstract：:Idiopathic intracranial hypertension is a neurological syndrome determined by a rise in intracranial pressure without a detectable cause. Course and prognosis may be changeable, requiring a multidisciplinary approach for its diagnosis and management. Although its precise pathogenesis is still unknown, many studies hav...

journal_title：Journal of neurology

authors： Toscano S,Lo Fermo S,Reggio E,Chisari CG,Patti F,Zappia M

更新日期：2020-05-27 00:00:00

abstract：OBJECTIVES:Evidences from either small series or spontaneous reporting are accumulating that SARS-CoV-2 involves the Nervous Systems. The aim of this study is to provide an extensive overview on the major neurological complications in a large cohort of COVID-19 patients. METHODS:Retrospective, observational analysis o...

journal_title：Journal of neurology

authors： Rifino N,Censori B,Agazzi E,Alimonti D,Bonito V,Camera G,Conti MZ,Foresti C,Frigeni B,Gerevini S,Grimoldi M,La Gioia S,Partziguian T,Quadri S,Riva R,Servalli MC,Sgarzi M,Storti B,Vedovello M,Venturelli E,Viganò M

更新日期：2020-10-07 00:00:00

abstract：:We investigated the levels of transforming growth factor beta 1 (TGF-beta 1) in cerebrospinal fluid (CSF) in children with meningitis, with a view to prognostic relevance. CSF TGF-beta 1 levels on admission were measured by a sandwich enzyme immunoassay in children with bacterial meningitis (n = 16), aseptic meningiti...

journal_title：Journal of neurology

authors： Huang CC,Chang YC,Chow NH,Wang ST

更新日期：1997-10-01 00:00:00

abstract：:Small fibre neuropathy (SFN) has been demonstrated in sarcoidosis. However, a systematic analysis of neuropathic pain and autonomic symptoms, key features of SFN, has not been performed. Clinimetric evaluation of pain and autonomic symptoms using the neuropathic pain scale (NPS) and the modified Composite Autonomic Sy...

journal_title：Journal of neurology

authors： Bakkers M,Faber CG,Drent M,Hermans MC,van Nes SI,Lauria G,De Baets M,Merkies IS

更新日期：2010-12-01 00:00:00

abstract：:Two right-handed patients who exhibited language disability after left frontal infarction are described. The patients spoke fluently and exhibited excellent repetition ability from the onset of infarction without exhibiting any oral apraxia, but had deficits in auditory comprehension, naming, reading and writing. In b...

journal_title：Journal of neurology

authors： Otsuki M,Soma Y,Koyama A,Yoshimura N,Furukawa H,Tsuji S

更新日期：1998-02-01 00:00:00

abstract：:Inherited ataxias are heterogeneous disorders affecting both children and adults, with over 40 different causative genes, making molecular genetic diagnosis challenging. Although recent advances in next-generation sequencing have significantly improved mutation detection, few treatments exist for patients with inherit...

journal_title：Journal of neurology

authors： Balreira A,Boczonadi V,Barca E,Pyle A,Bansagi B,Appleton M,Graham C,Hargreaves IP,Rasic VM,Lochmüller H,Griffin H,Taylor RW,Naini A,Chinnery PF,Hirano M,Quinzii CM,Horvath R

更新日期：2014-11-01 00:00:00

abstract：:Ischaemic stroke, the most common type of stroke, is classified into three main subtypes: large-vessel disease, lacunar or small-vessel disease, and cardioembolic; two further subtypes include a determined aetiology of "other" and cryptogenic. Although a substantial amount of literature exists concerning current guide...

journal_title：Journal of neurology

authors： Kirshner HS

更新日期：2010-11-01 00:00:00

abstract：:Twenty-four patients with unilateral facial weakness of various aetiologies were investigated using a magnetic stimulator to stimulate the proximal segment of the facial nerve directly (short latency response) and also to activate the facial motoneurons bilaterally via corticonuclear pathways by placing the stimulatin...

journal_title：Journal of neurology

authors： Meyer BU,Britton TC,Benecke R

更新日期：1989-02-01 00:00:00

abstract：:Recently, a frequent prion protein gene (PRNP) polymorphism consisting of a methionine (M) for valine (V) substitution at codon 129 has been associated with cognitive impairment in elderly individuals. Down syndrome (DS) is associated with mental retardation and development of Alzheimer-like brain abnormalities. In th...

journal_title：Journal of neurology

authors： Del Bo R,Comi GP,Giorda R,Crimi M,Locatelli F,Martinelli-Boneschi F,Pozzoli U,Castelli E,Bresolin N,Scarlato G

更新日期：2003-06-01 00:00:00

abstract：OBJECTIVES:The aim of this study was to identify clinical, magnetic resonance imaging (MRI) and biological markers predictive of long-term clinical response to interferon beta (IFN beta) therapy in patients with relapsing-remitting multiple sclerosis (RRMS). METHODS:Sixty-eight patients treated with IFN beta were foll...

journal_title：Journal of neurology

authors： Tomassini V,Paolillo A,Russo P,Giugni E,Prosperini L,Gasperini C,Antonelli G,Bastianello S,Pozzilli C

更新日期：2006-03-01 00:00:00

abstract：:The computed tomography, magnetic resonance imaging and angiographic findings are described in a patient with Klippel-Trenaunay syndrome, who also had a cerebral haemorrhage from an arteriovenous malformation. The resulting aphasia disappeared completely after resorption of the haemorrhage. In this syndrome, the occur...

journal_title：Journal of neurology

authors： Jaksch H,Bewermeyer H,Dreesbach HA,Heiss WD

更新日期：1986-02-01 00:00:00

abstract：:Homozygous mutations in the PINK1 gene have been shown to cause early-onset parkinsonism. Here, we describe a novel homozygous mutation (Q126P), identified in two affected German sisters with a clinical phenotype typical for PINK1-associated parkinsonism. We analysed lactate, pyruvate, carnitine and acylcarnitine bloo...

journal_title：Journal of neurology

authors： Prestel J,Gempel K,Hauser TK,Schweitzer K,Prokisch H,Ahting U,Freudenstein D,Bueltmann E,Naegele T,Berg D,Klopstock T,Gasser T

更新日期：2008-05-01 00:00:00

abstract：:Vitamin B(12) (VitB(12), cobalamin) deficiency has been associated with various neuropsychiatric conditions, such as peripheral neuropathy, subacute combined degeneration, affective disorders, and cognitive impairment. Current assays analyze vitamin B(12), of which only a small percentage is metabolically active. Meas...

journal_title：Journal of neurology

authors： Schrempf W,Eulitz M,Neumeister V,Siegert G,Koch R,Reichmann H,Storch A

更新日期：2011-03-01 00:00:00

abstract：:A man, aged 46, who had been taking Clioquinol in high doses for a long period, developed a characteristic neurological syndrome of subacute myelo-optic neuropathy rather abruptly. Electron microscopical examination of the muscle biopsy, obtained five months after the onset of the disease, revealed severe degenerative...

journal_title：Journal of neurology

authors： Otte G,de Coster W,Thiery E,de Reuck J,vander Eecken H

更新日期：1977-05-13 00:00:00

abstract：:In refractory temporal lobe epilepsy (TLE) temporal lobe structures and functions are continuously or intermittently affected by abnormal brain electrical events, noxious neurochemical agents, and metabolic disturbances. There is conflicting evidence regarding the relationship between the duration of refractory mesial...

journal_title：Journal of neurology

authors： Jokeit H,Ebner A,Arnold S,Schüller M,Antke C,Huang Y,Steinmetz H,Seitz RJ,Witte OW

更新日期：1999-10-01 00:00:00

abstract：:Based on the observation of bilateral temporoparietal hypoperfusion in Alzheimer's disease (AD), single photon emission computed tomography (SPECT) is advocated by some as a powerful diagnostic tool in the evaluation of demented patients. We studied whether routine brain SPECT in elderly, mildly demented outpatients i...

journal_title：Journal of neurology

authors： Van Gool WA,Walstra GJ,Teunisse S,Van der Zant FM,Weinstein HC,Van Royen EA

更新日期：1995-06-01 00:00:00

abstract：:Freezing of gait (FOG) is a disabling motor symptom experienced by a large proportion of patients with Parkinson's disease (PD). While it is known that FOG contributes to lower health-related quality of life (HRQoL), previous studies have not accounted for other important factors when measuring the specific impact of ...

journal_title：Journal of neurology

authors： Walton CC,Shine JM,Hall JM,O'Callaghan C,Mowszowski L,Gilat M,Szeto JY,Naismith SL,Lewis SJ

更新日期：2015-01-01 00:00:00

abstract：:Bilateral paramedian thalamic infarctions are usually associated with impaired consciousness, oculomotor disturbances and neuropsychological changes. A 44-year-old healthy woman presented with amaurosis fugax of the right eye immediately after a Valsalva maneuver. Neurological examination, in particular visual acuity,...

journal_title：Journal of neurology

authors： Emond H,Landis T,Perren F

更新日期：2009-06-01 00:00:00

abstract：OBJECTIVE:The main aim was to explore the changes in hand-grip strength in patients with Duchenne muscular dystrophy (DMD) aged 5-29 years. Secondary aims were to test the effect of mutation, ambulatory status and glucocorticoid use on grip strength and its changes over time and to compute the number of subjects needed...

journal_title：Journal of neurology

authors： Hogrel JY,Decostre V,Ledoux I,de Antonio M,Niks EH,de Groot I,Straub V,Muntoni F,Ricotti V,Voit T,Seferian A,Gidaro T,Servais L

更新日期：2020-07-01 00:00:00

abstract：:Altered cerebral vasoreactivity (CVR) has been implicated in migraine. To test this hypothesis, we studied CVR as measured by transcranial Doppler ultrasound (TCD) in 11 migraineurs and 12 healthy controls of similar age. Mean flow velocities (MFV) in the middle cerebral artery (MCA) were recorded during a cognitive a...

journal_title：Journal of neurology

authors： Thie A,Carvajal-Lizano M,Schlichting U,Spitzer K,Kunze K

更新日期：1992-07-01 00:00:00

abstract：:Urate is a natural antioxidant, and high serum urate levels could be protective against the development of amyotrophic lateral sclerosis (ALS). To determine if serum urate concentrations were lower in ALS patients than in healthy controls, we compared serum urate levels in 132 ALS patients and 337 age/sex-matched cont...

journal_title：Journal of neurology

authors： Zoccolella S,Simone IL,Capozzo R,Tortelli R,Leo A,D'Errico E,Logroscino G

更新日期：2011-02-01 00:00:00

abstract：:Apoptotic deletion of autoreactive T-cells is defective in patients with multiple sclerosis (MS). Glatiramer acetate (GA) treatment seems to restore apoptosis of detrimental T-cells. We analyzed the mitochondria membrane pro- (Bax) and anti-apoptotic (Bcl- 2) and cytosolic pro-apoptotic (Cyt-c, APAF-1) proteins expres...

journal_title：Journal of neurology

authors： Ruggieri M,Avolio C,Scacco S,Pica C,Lia A,Zimatore GB,Papa S,Livrea P,Trojano M

更新日期：2006-02-01 00:00:00

abstract：BACKGROUND:Perivascular spaces can become detectable on magnetic resonance imaging (MRI) upon enlargement, referred to as enlarged perivascular spaces (EPVS) or Virchow-Robin spaces. EPVS have been linked to small vessel disease. Some studies have also indicated an association of EPVS to neuroinflammation and/or neurod...

journal_title：Journal of neurology

authors： Granberg T,Moridi T,Brand JS,Neumann S,Hlavica M,Piehl F,Ineichen BV

更新日期：2020-11-01 00:00:00

abstract：BACKGROUND:The significance of neutrophil-to-lymphocyte ratio (NLR) has been explored in different diseases. Few studies addressed its role in patients with multiple sclerosis (MS), with promising results regarding its association with disease activity or disability. OBJECTIVES:We aimed at confirming the role of NLR a...

journal_title：Journal of neurology

authors： Gelibter S,Pisa M,Croese T,Dalla Costa G,Orrico M,Preziosa P,Sangalli F,Martinelli V,Furlan R,Filippi M

更新日期：2021-01-03 00:00:00

abstract：OBJECTIVE:To characterize the clinical symptoms and magnetic resonance imaging (MRI) findings of unilateral cortical FLAIR-hyperintense Lesions in Anti-MOG-associated Encephalitis with Seizures (FLAMES). METHODS:This is a case report and systematic review of the literature to identify cases of unilateral cortical FLAM...

journal_title：Journal of neurology

authors： Budhram A,Mirian A,Le C,Hosseini-Moghaddam SM,Sharma M,Nicolle MW

更新日期：2019-10-01 00:00:00