Clinical Neuroscience

[Multiple ischemic stroke in Osler-Rendu-Weber disease]

SALAMON András1, FARAGÓ Péter1, NÉMETH Viola Luca1, SZÉPFALUSI Noémi1, HORVÁTH Emese2, VASS Andrea3, BERECZKY Zsuzsanna4, TAJTI János1, VÉCSEI László1,5, KLIVÉNYI Péter1, ZÁDORI Dénes1

JANUARY 30, 2019

Clinical Neuroscience - 2019;72(01-02)


[Hereditary hemorrhagic teleangiectasia (HHT, Osler-Rendu-Weber disease) is an autosomal dominantly inherited disorder caused by the mutation of several possible genes and characterized by malformations of the arteriovenous system in multiple organs. The clinical diagnosis is based on the Curaçao criteria ((1) spontaneous, recurrent epistaxis; (2) teleangiectasias in characteristic sites (lips, oral cavity, nose, fingers); (3) visceral lesions (gastrointestinal, pulmonary, cerebral, spinal); (4) affected first degree relative). The aim of this study is to present the first genetically confirmed Hungarian case of hereditary hemorrhagic teleangiectasia with multiple ischemic strokes. Our 70-year-old woman has been suffering from severe epistaxis since her childhood and presented gastrointestinal bleeding during her adulthood as well. The characteristic skin lesions developed in the 5th decade of life. She was admitted to our department with loss of consciousness and fluctuating speech and swallowing problems. MRI of the brain supplemented with angiography revealed multiple arteriovenous malformations and multiple subacute ischemic lesions. The EEG demonstrated slowing of electric activity in the left frontal lobe. The neuropsychological assessment showed deficits in anterograde memory and executive functions. The diagnostic work-up for other characteristic alterations identified an arteriovenous malformation in the left lung. The genetic analysis demonstrated a heterozygous mutation in the 7th exon of the ENG gene at position 834 resulting in a thymine duplication and an early stop codon by a frame shift. The present case is largely similar to those already described in literature and draws the attention to the importance of multidisciplinary collaboration in the care of HHT patients.]


  1. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Neurológiai Klinika, Szeged
  2. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, Orvosi Genetikai Intézet, Szeged
  3. Szegedi Tudományegyetem, Általános Orvostudományi Kar, Szent-Györgyi Albert Klinikai Központ, II. Sz. Belgyógyászati Klinika és Kardiológiai Központ, Szeged
  4. Debreceni Egyetem, Általános Orvostudományi Kar, Laboratóriumi Medicina Intézet, Klinikai Laboratóriumi Kutató Tanszék, Debrecen
  5. MTA-SZTE Idegtudományi Kutatócsoport, Szeged



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[Selection of the optimal device-aided therapy in Parkinson’s disease]

KOVÁCS Norbert, ASCHERMANN Zsuzsanna, JUHÁSZ Annamária, HARMAT Márk, PINTÉR Dávid, JANSZKY József

[For the treatment of advanced Parkinson’s disease the deep brain stimulation (DBS) and the levodopa/carbidopa intestinal gel (LCIG) therapies are available in Hungary. Although they may have similar impact on the health-related quality of life and disabilities associated with the disease, they have different indications, and inclusion- and exclusion criteria. Consequently, the patient population treated with DBS and LCIG may be different. In the present review, the authors try to help the process of selection of the optimal device-aided therapy for the patients with advanced Parkinson’s disease. ]

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[Tension type headache and its treatment possibilities]

ERTSEY Csaba, MAGYAR Máté, GYÜRE Tamás, BALOGH Eszter, BOZSIK György

[Tension type headache, the most common type of primary headaches, affects approximately 80% of the population. Mainly because of its high prevalence, the socio-economic consequences of tension type headache are significant. The pain in tension type headache is usually bilateral, mild to moderate, is of a pressing or tightening quality, and is not accompanied by other symptoms. Patients with frequent or daily occurrence of tension type headache may experience significant distress because of the condition. The two main therapeutic avenues of tension type headache are acute and prophylactic treatment. Simple or combined analgesics are the mainstay of acute treatment. Prophylactic treatment is needed in case of attacks that are frequent and/or difficult to treat. The first drugs of choice as preventatives of tension type headache are tricyclic antidepressants, with a special focus on amitriptyline, the efficacy of which having been documented in multiple double-blind, placebo-controlled studies. Among other antidepressants, the efficacy of mirtazapine and venlafaxine has been documented. There is weaker evidence about the efficacy of gabapentine, topiramate, and tizanidin. Non-pharmacological prophylactic methods of tension type headache with a documented efficacy include certain types of psychotherapy and acupuncture. ]

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[The effect of palliative neural therapy on the improvement of chronic pain]

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[Objective - To assess the extent to which pain therapy can improve chronic pain in a heterogeneous group of patients, its impact on their quality of life and the correlation of the changes with their age and the underlying disease. The investigation has its actuality by its impact on public health. Methods - a prospective, non-randomized, interventional, clinical cohort study was conducted under real-life conditions in a general pain clinic, which lasted for 6 months. Changes in pain intensity (VAS) and related quality of life changes (SF-36 HRQoL) were measured using validated internationally accepted questionnaires. The questionnaires were filled out by all patients on their own, so they provided information of self-esteem on their own. All patient post-treatment results were compared to pre-treatment results. The general quality of life changes found in our patients were compared to the representative norms of healthy population in Hungary. Subjects - patients participated voluntarily at their own decision in the survey. The underlying disease of chronic pain, age and gender of the patients did not limit the inclusion into the study. Results - Data of 231 patients were evaluated. After pain therapy, the decrease in intensity of pain was confirmed by VAS at p=0.002. This was linked to a quality of life change that has been shown to be p=0.003 for men, with p=0.002 in women with SF-36 HRQoL. Based on the correlation coefficients, the changes in quality of life improved regardless of the age of the patients and the nature of the underlying conditions causing the pain. Conclusions - Although analgesia is basicly a symptomatic therapy, our findings suggest that the reduction of pain improves the quality of life of patients independently from their, and the curability of the underlying and accompanying diseases. ]

Clinical Neuroscience

Evaluation of neutrophil-to-lymphocyte ratio and platelet-to-lymphocyte ratio in essential tremor

TAK Zeynal Abidin Ali, SENGUL Yildizhan

Introduction - Although essential tremor (ET) is the most common cause of tremor, the pathology and underlying mechanisms have not fully understood yet. In addition to kinetic tremor, patients may present several types of tremor, gait ataxia, hearing deficits and eye movement abnormalities. Non-motor symptoms and signs have also added to definition of ET. There is significant evidence indicating the neurodegenerative nature of the disease. New studies indicate that inflammation may have a place in the etiology. The neutrophil-to lymphocyte ratio (NLR) and the platelet-to lymphocyte ratio (PLR) have recently begun to be used as a marker of systemic inflammation. Our study aims at finding a clue for systemic inflammation in ET. Methods - 67 patients with ET and 40 healthy controls were recruited for the study. The total white blood cells (WBC), absolute neutrophil count, lymphocyte count and platelet count were retrieved. The NLR was calculated by dividing the neutrophil count by the lymphocyte count and the PLR was calculated by dividing the platelet count by the lymphocyte count. Results - Patient and control groups were similar in terms of age and gender. The mean age of patient group was 25.29 ± 8.24 years and that of control group was 26.77 ± 6.73 years. The NLRs were 1.85 ± 0.58 in the patient group and 1.96 ± 0.53 in the control group. For the patient group and the control group the PLRs were 103.52 ±32.80 and 91.26 ± 31.57 respectively. There were no statistically significant differences between the participants for both NLR and PLR. Conclusion - The pathophysiological mechanism for essential tremor (ET) remains unclear. However, there is an increasing amount of research being conducted on the subject. Discussions about ET’s definition as a neurodegenerative disease are ongoing. Although previous studies showed that neuroinflammation could be a part of etiology of disease, this study has failed to demonstrate systemic inflammation in ET.

Clinical Neuroscience

Additional value of tau protein measurement in the diagnosis of Creutzfeldt-Jakob disease

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Since the definite diagnosis of Creutzfeldt-Jakob disease (CJD) can currently only be provided by autopsy, there is a special need for fine diagnostic tools in live patients to achieve accurate diagnosis as early as possible. The aim of this study was to perform a preliminary retrospective analysis on the utility of the measurement of total Tau (tTau) and some other biomarkers from the cerebrospinal fluid (CSF) of patients with rapidly progressive dementia in the diagnostic work up of CJD. Beside the assessment of relevant clinical data and the findings of electroencephalography and brain magnetic resonance imaging, the presence of 14-3-3 protein and the levels of tTau were determined by Western blot technique and enzyme-linked immunosorbent assay from the CSF of 19 patients diagnosed with rapidly progressive dementia between the period of 2004-2017 at the Department of Neurology, University of Szeged. This preliminary study provided 100% sensitivity for 14-3-3, and interestingly, only 40% specificity to support the clinical diagnosis of CJD. Regarding tTau, the sensitivity values were calculated to be 100% or 83%, whereas the specificity values were 71% or 86%, depending on the applied cut-off levels. The poor specificity of 14-3-3 is not in line with literature data and may be the result of the small number of patients in the cohort with non-prion disease, predominantly consisting of disorders with considerable tissue damage, whereas tTau presented good sensitivity and specificity values. The combined application of these and novel chemical biomarkers may increase both sensitivity and specificity to a desired level.

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