Clinical Neuroscience

[Nusinersen in the treatment of spinal muscular atrophy]

SINKÓ Gabriella, KISS Zsuzsanna, BERNADETTE Kalman

MARCH 30, 2018

Clinical Neuroscience - 2018;71(03-04)


[Until recently, the diagnosis of spinal muscular atrophy (SMA) has been associated with severe life-long motor disability in adults and with early death in infants. The new experimental therapeutic approaches of the last few years have become more and more promising, while nusinersen was approved for the treatment of SMA in December 2016 in the USA, and in May 2017 in Hungary. Our paper presents mechanisms and clinical benefits of this new medication, and highlights some of the other therapeutic strategies still in experimental stages.]



Further articles in this publication

Clinical Neuroscience

[The role of MRI in measuring the effectivity of disease modifying treatments I]

TÓTH Eszter, BENCSIK Krisztina, VÖRÖS Erika, FRICSKA-NAGY Zsanett, FÜVESI Judit, RAJDA Cecília, CSOMOR Angéla, PALKÓ András, VÉCSEI László, KINCSES Zsigmond Tamás

[MRI has a significant role in the diagnosis of multiple sclerosis. The newer and newer treatment options of the disease make it necessary to monitor the effectiveness of the therapy. Besides the clinical signs (clinical relapses and progression), the different MRI parameters can also reflect the disease activity. In our current article we summarize those MRI markers, which best predict the long-term disability, based on the international standards.]

Clinical Neuroscience

[The role of MRI in measuring the effectivity of disease modifying treatments II]

KINCSES Zsigmond Tamás, TÓTH Eszter, FRICSKA-NAGY Zsanett, FÜVESI Judit, RAJDA Cecília, BENCSIK Krisztina, VÖRÖS Erika, CSOMOR Angéla, PALKÓ András, VÉCSEI László

[The paraclinical examinations, principally the MRI have an increasing significance in the diagnosis of multiple sclerosis. However, MRI markers also have a prominent role in monitoring of the disease-course and activity, and also in the planning of possible therapeutic changes. In accordance with previously published international guidelines, in this article we propose a protocol for the monitoring the treatment efficacy in multiple sclerosis. This could be the basis of a consensus based guideline to be implemented in Hungary.]

Clinical Neuroscience

Long-term follow-up results of concomitant chemoradiotherapy followed by adjuvant temozolomide therapy for glioblastoma multiforme patients. The importance of MRI information in survival: Single-center experience

LUKÁCS Gábor, TÓTH Zoltán, SIPOS Dávid, CSIMA Melinda, HADJIEV Janaki, BAJZIK Gábor, CSELIK Zsolt, SEMJÉN Dávid, REPA Imre, KOVÁCS Árpád

Introduction - Glioblastoma multiforme (GBM) is the most common malignant primary anomaly of central nervous system. The GBM infiltrates the nearly sturctures from the initial tumor and its metastatic attribution is well known. The aim of our single-centered retrospective study was to introduce the importance of postoperative medical imaging confirmation of total tumor resection for patient with GBM combined concomitant and adjuvant chemoradiotherapy on a 10 year long patient follow up. Methods - From January 2006 to April 2015 we registered 59 patients with newly diagnosed GBM at the University of Kaposvár Health Center Institute of Diagnostic Imaging and Radiation Oncology. The histological diagnosis was confirmed by a proficient neuropathologist (World Health Organisation WHO; grade IV astrocytoma). According to histological status if the ECOG performance status of patients allowed it the mutidisciplinary oncoteam recommended adjuvant chemoradiotherapy all features strictly by Stupp protocol. (60 Gy dose on the gross tumor volume and 2-3 cm margin for the clinical target volume with parallel 75 mg/m2 TMZ. Four weeks after monotherapial phase patients had to recieve 6 cycles of TMZ first cycle with 150 mg/m2 up to 200 mg/m2). The irradiation was carried out by a conformal three dimensional planning system. Results - 59 patients with the median age of 63 (range 17-84) year. Our sample counted 34 male patients and 25 woman patients. 14 patients underwent gross total tumor resection while, 39 patients underwent partial resection and the rest from our sample 6 patients passed through biopsy. Statistical analysis showed a lengthier survival among males than females, with a median survival of 13 months for males and females, the OS of 26.209 for males, meanwhile 15.625 for females. However, the difference is not considerable (log-rank p=0.203). Our study found that the estimated survival of patients at least 50 years old is significantly shorter at a median survival of 12 months (log rank p=0.027) than that of patients below 50 years of age at a median survival of 23 months. The longest estimated median survival was calculated with patients of ECOG '0' condition (16 months). However, no significant difference was found in the estimated survival of patients of different ECOG conditions (log-rank p=0.146). Based on the extent of surgery, complete resection resulted in the longest average survival of 36.4 months, followed by 21.5 months among patients with biopsy, and 15.8 months among patients with partial resection. Different surgical procedures, however, did not result in significant differences in survival (log-rank p=0.059). The overal survival of patients who had complete resection confirmed by MRI compared with the overal survival of patients with residual tumor confirmed by MRI as well we can estimate that there is significant difference between these two groups (p=0,004). Conclusion - Despite complex and intense treatment, recurrence is inevitable and causes relatively rapid death. In our analysis complete resection, as defined from the neurosurgeon’s report and postoperative MRI, resulted in an independently significant improvement in OS. Our results are the evidences that the treatment of patients with glioblastoma multiforme in Hungary is at least on the same level as any other developed European countries.

Clinical Neuroscience

[Changes of cognitive functions in healthy aging]


[Introduction - Mental health has crucial role in our life. Cognitive changes or decline can lead to many difficulties in daily routine of older people (e.g. organization of daily activities), which can, consequently, influence their well-being. Therefore it is an important question, which cognitive abilities are affected by age-related decline. Methods - In our study we aimed to investigate the changes of cognitive abilities in healthy older adults between 61 and 85 years of age compared to the performance of younger adults. Digit span, counting span, listening span, letter fluency, semantic fluency and action fluency tests were used to assess cognitive abilities, namely working memory and executive functions. Results - The results showed that younger adults performed significantly better in all tests than older adults. Importantly, the performance of older adults was better on tests requiring less complex mental computations (e.g. digit span test) than on more complex tests where both storing and mani-pulating information was required (e.g., counting span test). We also showed that within the older age group, cognitive functions’ decline was linearly associated with increasing age. Conclusion - The present study used several, well-established neuropsychological tests to map the changes of working memory and executive functions in healthy older adults between 61 and 85 years of age compared to younger adults. Our findings can contribute to the development of prevention programs aimed at improving the quality of life of older adults and preventing age-related cognitive decline.]

Clinical Neuroscience

[Schizotypal traits and verbal creativity]

FEJES Nikolett Éva, RÓZSA Sándor, MUST Anita

[Introduction - The relationship of schizophrenia and its milder, subclinical forms, with creativity has been in the centre of theoretical interest for decades, however, the systematic research of the topic only prevailed more recently. Purpose - Here we aimed to examine the connection between different schizotypal and non-schizotypal personality traits and verbal creativity in a nonclinical sample. We also investigated the correspondence of two schizotypy inventories, the Oxford-Liverpool Inventory of Feelings and Experiences and a special character configuration of the Temperament and Character Inventory associated with schizotypy. Method - 57 healthy adults (14/43 m/f, mean age 21.51±1.43 years) - took part in the experiment. All participants received a detailed information sheet and gave informed consent prior to participation. Participants completed the Oxford-Liverpool Inventory and the Temperament and Character Inventory to measure both schizotypal and non-schizotypal personality traits. Torrance Test of Creative Thinking was used to measure verbal creativity. Associations between reported measures were examined with correlational and regression analyses. Results and conclusion - Out of the specific Temperament and Character configuration associated with schizotypy (low self-directedness, cooperativeness and high self- transcendence), we only found low self-directedness to be correlated significantly with Oxford-Liverpool schizotypy rates (Self-directedness-schizotypy: r=-.730, p<.01). There was no significant connection between schizotypal traits and verbal creativity. In our sample, the Self-directedness and Reward-dependence character and temperament subscales predicted significantly the verbal creativity level (Self-directedness: b=.330, p=.015; Reward - dependence: b=-.260; p=.049). Based on our results, besides schizotypal traits, other personality measures might be considered in relation to verbal creativity, providing further details to the empirical investigation of creativity. We found low self-directedness to be correlated with Oxford-Liverpool schizotypy rates, however, the sample size was not large enough to test the concurrent validity of the two inventories. Future studies might consider to extend the study sample, preferably to both clinical and non-clinical populations.]

All articles in the issue

Related contents

Clinical Neuroscience

[Quantitative analysis of the genes determining spinal muscular atrophy]


[Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately one in 10.000 live births and with a carrier frequency of approximately one in 35. The disease is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. Due to a single nucleotide polymorphism in exon 7, SMN2 produces less full-length transcript than SMN1 and cannot prevent neuronal cell death at physiologic gene dosages. On the other hand, the copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype. SMN gene dosage analysis can determine the copy number of SMN1 to detect carriers and patients heterozygous for the absence of SMN1 exon 7. This study provides copy number estimation of SMN1 gene by real-time PCR technique in 56 SMA type I., II., III. patients, 159 parents and healthy relatives and in 152 undefined SMA patients. Among the family members, 91 carriers have been detected and in 56 patients homozygous deletion of SMN1 exon 7 has been confirmed. Moreover, in 12 patients compound heterozygosity of SMN1 exon 7 mutation has been detected, thus providing the possible diagnosis of SMA. In 94 patients, copy number of SMN2 has also been evaluated and a good correlation has been found with the phenotype of the disease. Due to the genetic complexity and the high carrier frequency, accurate risk assessment and genetic counselling are particularly important for the families. These new results provide improvement of the diagnostic service in SMA in Hungary with focus on proper genetic counselling and possible enrolment of the patients in future therapeutic interventions.]

Lege Artis Medicinae

[Thiazide- or thiazide-like diuretics should be used in the treatment of patients with hypertension? Particularities of the situation in Hungary]


[Diuretics have remained the cornerstone of the antihypertensive treatment since their widespreading in the 1960s. According to the 2018 ESC/ESH Guidelines for the management of arterial hypertension, in the absence of evidence from direct comparator trials and recognizing that many of the approved single-pill combinations are based on hydrochlorothiazide, this drug and thiazide-like indapamide can be considered suitable antihypertensive agents. In the 2018 Hungarian guidelines indapamide is named as the most efficacious diuretic in the treatment of patients with hypertension. The aim of the publication is redefining thiazide- and thiazide-like diuretic use in the treatment of hypertensive patients, with particular attention to presently available hydrochlorothia­zide and indapamide, and their combination drugs in Hungary.]

Clinical Neuroscience

Acute effect of sphenopalatine ganglion block with lidocaine in a patient with SUNCT


Short-lasting unilateral neuralgiform headache with conjunctival injection and tearing/short-lasting unilateral neuralgiform headache with cranial autonomic features (SUNCT/SUNA) is a rare severe headache. At the time of an attack, it can hinder a patient from eating and requires acute intervention. The sphenopalatine ganglion is an extracranial parasympathetic ganglion with both sensory and autonomic fibers. Sphenopalatine ganglion block has long been used in the treatment of headache, particularly when conventional methods have failed. Here, we present a patient who was resistant to intravenous lidocaine, but responded rapidly to sphenopalatine ganglion block during an acute episode of SUNCT/SUNA.

Clinical Neuroscience

A rare entity of acquired idiopathic generalised anhidrosis which has been successfully treated with pulse steroid therapy: Does the histopathology predict the treatment response?

ÖKTEM Özdemir Ece, ÇANKAYA Şeyda, UYKUR Burak Abdullah, ERDEN Simsek Nazan, YULUG Burak

Acquired idiopathic generalised anhidrosis is an uncommon sweating disorder characterized by loss of sweating in the absence of any neurologic, metabolic or sweat gland abnormalities. Although some possible immunological and structural mechanisms have been proposed for this rare entity, the definitive pathophysiology is still un­clear. Despite some successfully treated cases with systemic corticosteroid application, the dose and route of steroid application are controversial. Here, we present a 41-year-old man with lack of genera­lised sweating who has been successfully treated with high dose pulse intravenous prednisolone. We have discussed his clinical and histopathological findings as well as the treatment options in view of the current literature.