Acanthocytosis and neurological disorders.

abstract：BACKGROUND:Diagnostic delay of hereditary transthyretin amyloidosis (ATTRv, v for variant) prevents timely treatment and, therefore, concurs to the mortality of the disease. The aim of the present study was to explore with nerve ultrasound (US) possible red flags for early diagnosis in ATTRv patients with carpal tunnel...

journal_title：Journal of neurology

authors： Salvalaggio A,Coraci D,Cacciavillani M,Obici L,Mazzeo A,Luigetti M,Pastorelli F,Grandis M,Cavallaro T,Bisogni G,Lozza A,Gemelli C,Gentile L,Ermani M,Fabrizi GM,Plasmati R,Campagnolo M,Castellani F,Gasparotti R,Marti

更新日期：2021-01-01 00:00:00

abstract：:Neurological manifestations in pandemics frequently cause short and long-term consequences which are frequently overlooked. Despite advances in the treatment of infectious diseases, nervous system involvement remains a challenge, with limited treatments often available. The under-recognition of neurological manifestat...

journal_title：Journal of neurology

authors： Valerio F,Whitehouse DP,Menon DK,Newcombe VFJ

更新日期：2020-10-26 00:00:00

abstract：:The safety and efficacy of intravenous thrombolysis (IVT) in dissection-related ischemic stroke (DRIS) has not been established. We sought to determine safety and recovery rates of IVT in DRIS using prospective, international, multicenter data and by conducting a comprehensive meta-analysis of reported case series. We...

journal_title：Journal of neurology

authors： Tsivgoulis G,Zand R,Katsanos AH,Sharma VK,Goyal N,Krogias C,Safouris A,Vadikolias K,Voumvourakis K,Alexandrov AW,Malkoff MD,Alexandrov AV

更新日期：2015-09-01 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：:The spinocerebellar ataxias (SCAs) with autosomal dominant inheritance are a clinically and genetically heterogeneous group of neurological disorders with overlapping as well as highly variable phenotypes primarily affecting the cerebellum. To date, 28 different loci have been identified. Nine SCAs are caused by repea...

journal_title：Journal of neurology

authors： Edener U,Kurth I,Meiner A,Hoffmann F,Hübner CA,Bernard V,Gillessen-Kaesbach G,Zühlke C

更新日期：2009-11-01 00:00:00

abstract：BACKGROUND:Gastrointestinal (GI) dysfunction is prevalent in Parkinson's disease (PD). Symptoms are evident throughout the disease course, affect the length of the GI tract and impact on patient quality of life and management. We clarify real-life differences in the frequency and severity of GI symptoms in a cohort of ...

journal_title：Journal of neurology

authors： Lubomski M,Davis RL,Sue CM

更新日期：2020-05-01 00:00:00

abstract：:The effect of local cooling was studied in 28 patients with myastenia gravis. We stimulated the ulnar nerve with single stimuli and trains at 3/s for 2s and at 50/s for 1.5 s. The compound muscle action potential (MAP), the muscle twitch and the isometric tetanic force of the adductor pollicis were registered. 1. At 3...

journal_title：Journal of neurology

authors： Ricker K,Hertel G,Stodieck S

更新日期：1977-11-01 00:00:00

abstract：:A myasthenia gravis (MG) patient who seems to have recovered can later have recurrence of myasthenic signs. Clearly clinical remission does not always correspond to the normalization of all the factors involved in the pathogenesis of the disease. In ten patients who had apparently recovered from MG, electromyographic ...

journal_title：Journal of neurology

authors： Scoppetta C,Bartoccioni E,David P,Flamini G,Lo Monaco M,Scuderi F,Tonali P

更新日期：1982-01-01 00:00:00

abstract：:The objective was to identify factors associated with decisions made by patients with amyotrophic lateral sclerosis (ALS) to accept or decline non-invasive ventilation (NIV) and/or gastrostomy in a prospective population-based study. Twenty-one people with ALS, recruited from the South-East ALS Register who made an in...

journal_title：Journal of neurology

authors： Greenaway LP,Martin NH,Lawrence V,Janssen A,Al-Chalabi A,Leigh PN,Goldstein LH

更新日期：2015-01-01 00:00:00

abstract：:A patient with chronic relapsing inflammatory demyelinating polyneuropathy was successfully treated with plasma exchanges and cyclosporin A (CsA). Dynamometric measurements of hand force during the time of CsA treatment showed a highly significant correlation between hand force and CsA blood levels. The largest influe...

journal_title：Journal of neurology

authors： Hefter H,Sprenger KB,Arendt G,Hafner D

更新日期：1990-08-01 00:00:00

abstract：:The bulbocavernosus reflex (BCR) was examined in 39 normal potent men and in 252 patients with impaired potency of varying aetiology. For BCR evaluation minimum, maximum and mean latencies, the temporal dispersion in ten successive responses, together with minimum and maximum side differences from simultaneous recordi...

journal_title：Journal of neurology

authors： Tackmann W,Porst H,van Ahlen H

更新日期：1988-03-01 00:00:00

abstract：:Aquaporin-4 antibody (AQP4-Ab)-positive neuromyelitis optica spectrum disorder (NMOSD) is a rare but often severe autoimmune disease with median onset around 40 years of age. We report characteristics of three very-late-onset NMOSD (including complete NMO) patients >75 years of age, in whom this diagnosis initially se...

journal_title：Journal of neurology

authors： Krumbholz M,Hofstadt-van Oy U,Angstwurm K,Kleiter I,Jarius S,Paul F,Aktas O,Buchholz G,Kern P,Straube A,Kümpfel T

更新日期：2015-05-01 00:00:00

abstract：:We investigated the efficacy of botulinum toxin A (BtxA) therapy in patients with atypical parkinsonian disorders (APD) exhibiting different types of disabling focal dystonia unresponsive to oral drug therapy. Eight patients with functionally disabling focal dystonia out of a series of 60 consecutive patients with APD...

journal_title：Journal of neurology

authors： Müller J,Wenning GK,Wissel J,Seppi K,Poewe W

更新日期：2002-03-01 00:00:00

abstract：BACKGROUND:Glatiramer acetate (GA) therapy following brief, low-dose induction with mitoxantrone was safe and more effective than GA alone in suppressing inflammatory disease activity, as determined by a significant reduction in gadolinium (Gd)- enhancing MRI lesions, in a 15- month, randomized, single-blind study of r...

journal_title：Journal of neurology

authors： Arnold DL,Campagnolo D,Panitch H,Bar-Or A,Dunn J,Freedman MS,Gazda SK,Vollmer T

更新日期：2008-10-01 00:00:00

abstract：:Intravenous immunoglobulins (IVIg) are effective for treating chronic inflammatory demyelinating polyneuropathy (CIDP), although treatment needs are variable and need to be individualized. Dose and frequency requirements are not currently predictable in advance. In Guillain-Barré syndrome, IVIg interpatient pharmacoki...

journal_title：Journal of neurology

authors： Rajabally YA,Wong SL,Kearney DA

更新日期：2013-08-01 00:00:00

abstract：:Suicide is a leading cause of death in Huntington's disease (HD), following pneumonia. Up to one-fifth of individuals with HD report suicidal ideation. Identifying the risk factors of suicidal ideation in this clinical population is thus pivotal. Here, we review the literature on prevalence rates and risk factors of s...

journal_title：Journal of neurology

authors： Honrath P,Dogan I,Wudarczyk O,Görlich KS,Votinov M,Werner CJ,Schumann B,Overbeck RT,Schulz JB,Landwehrmeyer BG,Gur RE,Habel U,Reetz K,Enroll-HD investigators.

更新日期：2018-11-01 00:00:00

abstract：:Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectros...

journal_title：Journal of neurology

authors： Brockmann K,Dreha-Kulaczewski S,Dechent P,Bönnemann C,Helms G,Kyllerman M,Brück W,Frahm J,Huehne K,Gärtner J,Rautenstrauss B

更新日期：2008-07-01 00:00:00

abstract：:Demographic and clinical features and data on medical history and prior environmental exposure collected during an epidemiological long-term study of multiple sclerosis (MS) were tested for their possible prognostic value. Fifty-two benign MS patients were compared with 29 patients having a malignant course. A primary...

journal_title：Journal of neurology

authors： Lauer K,Firnhaber W

更新日期：1992-02-01 00:00:00

abstract：:Moderate unilateral cerebral ischemia was produced by microembolism in 24 adult cats. Two million plastic microspheres with a diameter of 15 +/- 5 microns were injected into the left common carotid artery via the lingual artery. The physiological and metabolic responses to embolism were accessed by electrocorticograp...

journal_title：Journal of neurology

authors： Sugi T,Schuier FJ,Hossmann KA,Zülch KJ

更新日期：1980-01-01 00:00:00

abstract：:The course of multiple sclerosis (MS) can be monitored by measuring changes in brain volume, but consensus is still lacking on the best strategy to be adopted. We compared the reproducibility and sensitivity of volume measurements from different brain portions for detecting changes on magnetic resonance imaging (MRI) ...

journal_title：Journal of neurology

authors： Rovaris M,Inglese M,van Schijndel RA,Sormani MP,Rodegher M,Comi G,Filippi M

更新日期：2000-12-01 00:00:00

abstract：:Degeneration of central dopaminergic neurons is the most characteristic pathological feature of Parkinson's disease. It remains to be established to what extent these lesions explain the motor, cognitive and affective disorders observed in patients, but there are now some interesting clues to a possible solution. ...

journal_title：Journal of neurology

authors： Dubois B,Pillon B,Agid Y

更新日期：1992-01-01 00:00:00

abstract：:Evaluating freezing of gait (FOG) and quantifying its severity in patients with Parkinson's disease (PD) is challenging; objective assessment is not sufficiently established. We aimed to improve the ability to objectively evaluate FOG severity by investigating the value of measuring the duration of the test and its co...

journal_title：Journal of neurology

authors： Herman T,Dagan M,Shema-Shiratzky S,Reches T,Brozgol M,Giladi N,Manor B,Hausdorff JM

更新日期：2020-09-01 00:00:00

abstract：:The geste antagoniste is a voluntary maneuver that temporarily reduces the severity of dystonic posture or movements. It is a classical feature of focal and particularly cervical dystonia. However, the precise historical aspects of geste antagoniste still remain obscure. The goals of this review were (1) to clarify th...

journal_title：Journal of neurology

authors： Poisson A,Krack P,Thobois S,Loiraud C,Serra G,Vial C,Broussolle E

更新日期：2012-08-01 00:00:00

abstract：:Alexander disease (AD) is a rare genetic disorder of the central nervous system due to a dysfunction of astrocytes. The most common infantile form presents as a progressive leukodystrophy with macrocephalus. Recently, heterozygous de novo mutations in the gene encoding glial fibrillary acidic protein (GFAP) have been ...

journal_title：Journal of neurology

authors： Brockmann K,Dechent P,Meins M,Haupt M,Sperner J,Stephani U,Frahm J,Hanefeld F

更新日期：2003-03-01 00:00:00

abstract：:The aim of the present study was to assess the efficacy and safety of chronic subthalamic nucleus deep-brain stimulation (STN-DBS) in patients with Parkinson's disease (PD). 18 consecutive severely affected PD patients were included (mean age, SD: 56.9+/-6 years; mean disease duration: 13.5+/-4.4 years). All the patie...

journal_title：Journal of neurology

authors： Thobois S,Mertens P,Guenot M,Hermier M,Mollion H,Bouvard M,Chazot G,Broussolle E,Sindou M

更新日期：2002-05-01 00:00:00

abstract：:KIF1A gene encodes the kinesin 1a protein, an axonal motor protein working in cargo transport along neurites. Variants in KIF1A were identified in different forms of neurodegenerative diseases with dominant and recessive inheritance. Homozygous recessive mutations were found in the hereditary sensory and autonomic neu...

journal_title：Journal of neurology

authors： Citterio A,Arnoldi A,Panzeri E,Merlini L,D'Angelo MG,Musumeci O,Toscano A,Bondi A,Martinuzzi A,Bresolin N,Bassi MT

更新日期：2015-12-01 00:00:00

abstract：:Circulating and cerebrospinal fluid (CSF) neurofilament light chain (NfL) levels represent a reliable indicator of disease activity and axonal damage in different neuroinflammatory conditions. Recently, high CSF NfL levels have been detected in active autoimmune encephalitis, as opposed to significant lower levels aft...

journal_title：Journal of neurology

authors： Mariotto S,Gajofatto A,Zuliani L,Zoccarato M,Gastaldi M,Franciotta D,Cantalupo G,Piardi F,Polo A,Alberti D,Sartori S,Zanusso G,Agrò L,Demurtas R,Sechi G,Sechi E,Monaco S,Ferrari S

更新日期：2019-07-01 00:00:00

abstract：:Neurological complications following rubella are only rarely encountered. However, in many cases severe neurological impairment may occur, leading to permanent disability. In a recent epidemic of rubella in Israel during the years 1978-1979, 20 patients with severe neurological complications have been seen. We report ...

journal_title：Journal of neurology

authors： Bechar M,Davidovich S,Goldhammer G,Machtey I,Gadoth N

更新日期：1982-01-01 00:00:00

abstract：:We should like to emphasize the following points: 1. Apathy is defined here as a quantified and observable behavioral syndrome consisting in a quantitative reduction of voluntary (or goal-directed) behaviors; 2. Therefore, apathy occurs when the systems that generate and control voluntary actions are altered; 3. These...

journal_title：Journal of neurology

authors： Levy R,Czernecki V

更新日期：2006-12-01 00:00:00

abstract：OBJECTIVE:To establish differences in basal ganglia and thalamic volume between preclinical carriers and non-carriers of the Huntington's disease (HD) gene and to link the volume to motor, cognitive and behavioural characteristics in carriers. METHODS:Sixteen HD gene carriers without overt clinical motor signs and 14 ...

journal_title：Journal of neurology

authors： Jurgens CK,van de Wiel L,van Es AC,Grimbergen YM,Witjes-Ané MN,van der Grond J,Middelkoop HA,Roos RA

更新日期：2008-11-01 00:00:00