Ideggyogyaszati Szemle-Clinical Neuroscience最新文献

Background and purpose: Genetic services have not been evenly distributed in Hungary. Diagnostic services for rare diseases have particularly been scarce in the West end of the country. We aimed to fill this diagnostic gap.

Methods: We have created a new mod- el involving the molecular medicine (MM) service as a tertiary patient referral center at the Markusovszky University Teaching Hospital (MUTH) in contract with the Ge- nomics and Bioinformatics Core Facility of the Szentágothai Research Center, University of Pécs, and the iBioScience company, which provide whole exome sequencing and Sanger sequencing.

Results: We present our results of molecular genetic and genomic diagnostics for rare neurological diseases, and highlight a few cases where the identification of the caus- ative pathogenic or likely pathogenic variant resulted in direct benefit to the patient.

Conclusion: Our multidisciplinary collab- oration operating in less than two years has filled a gap in genetic services in the West-Hungary region, and yielded shortcuts to diagnostics, led to targeted therapy and supported family planning in several cases with rare neurological diseases.

Desmin is an intermediate filament and the mutation of its gene, DES, mostly causes myofibrillar myopathy. A 26-year-old male patient presented with progressive proximal weakness was admitted for diagnostic evaluation. On examination, decreased visual acuity on the right-side and mild superficial sensory impairment was noted besides the proximal weakness of the extremities. High creatine kinase level in serum, and myopathic changes on electromyography were detected. Muscle biopsy showed myopathic changes with vacuoles immunoreactive to dystrophin and mild increase of the endomysium. Brain MR imaging depicted T2 hyperintense lesions, some with contrast enhancement, compatible with primary demyelinating disease. The new generation DNA sequencing revealed homozygous c.1289-2A>G mutation in DES gene, which was reported only in one family previously. Although central nervous system involvement can be present in various muscle disorders, the co-occurrence of multiple sclerosis (MS) and myopathy is very rare. In our knowledge, this is the first case with desmin-related myopathy and MS.

Background and purpose: The surgery of spondylolisthesis or vertebral slippage aims to treat segmental instability and decompress nerve structures. Because of the complications/consequences of open surgical techniques, a demand emerged from both patients and surgeons to develop minimally invasive techniques such as endoscopic methods. The purpose of this article is to present endoscopic interbody fusion technique that is a safe and effective alternative in the treatment of patients with vertebral slippage.

Methods: The surgery is performed under general anesthesia. Under aseptic circumstances, two 1,5-2 centimeters paramedian incisions are used to introduce endoscopic instruments on the symptomatic side.Continuous irrigation is used during the surgery. Yellow ligament can be removed both ipsilateral and contralateral under endoscopic visualization with the decompression of nerve roots at the same time. After removing the intervertebral disc, a cage is implanted through the working channel to which enough space is provided with sufficient bony decompression. The screws and rods are placed with standard percutaneous technique under continuous fluoroscopy guidance.

Results: The endoscopic interbody fusion technique could reduce the time of hospital stay, intraoperative blood loss, postoperative pain and recovery time in total. Compared to open surgeries, the incidence of postoperative adjacent segment syndrome can also be reduced. All of aesthetic result, decreased rehabilitation time and faster return to work increase the satisfaction of patients.

Conclusion: The endoscopic interbody fusion technique is a safe and sufficient method in the treatment of vertebral slippage with all advantages of minimally invasive techniques.

Evaluating the driving capabilities of elderly individuals is a multifaceted issue of significant societal importance. While traffic safety statistics generally worsen with age, advanced age is only a weak predictor of driving performance. Since the cognitive abilities of elderly individuals vary significantly, it is necessary to individually assess their functional status. According to literature recommendations, individuals who age at a physiological pace are typically considered fit for driving, provided that other chronic conditions do not pose contraindications. Regular cognitive evaluation is warranted in cases where cognitive decline is evident. Those living with Mild Cognitive Impairment or in the early stages of dementia may still be capable of safe driving under close medical supervision, but they should prepare for alternative transportation means over time. Numerous international examples show that periodic medical assessments targeting the elderly often fail to achieve their objectives due to the use of low-validity measurement methods, resulting in no improvement and sometimes exacerbation of traffic safety indicators. In our comprehensive study, we propose the use of neuropsychological assessment tools and novel data analysismethods that could also be implemented in primary care settings.

Eslicarbazepine acetate (ESL), a sodium ionchannel blocker as a third-generation antiseizure drug is a member of the firstline dibenzazepine antiseizure medications after carbamazepine (first generation) and oxcarbazepine (second generation). The hypothesis of the further development of carbamazepine was that the direct metabolite S-licarbazepine possessed higher permeability to blood-brain barrier compared to R-enantiomer. This can lead to a more efficacious drug with fewer side effects.Based on the results of the randomized controlled clinical trials can be established that ESL administered once daily as addon pharmacotherapy is efficacious, welltolerated with a beneficial safety profile in patients with focal epilepsies (with or without secondary generalization) in adults and in children older than 6 years. ESL used in monotherapy is recommended also in focal epilepsies (with or without secondary generalization) for newly diagnosed adult epileptic patients. It has been confirmed that ESL either in monotherapy or in combination drug treatment is an effective, well-tolerated and safe antiseizure medication.

Background and purpose: We sought to evaluate the acute and dynamic alterations in the sympathetic skin response (SSR) in patients with Parkinson's disease (PD) in response to levodopa therapy.

Methods: We studied patients who were diagnosed with PD in our movement disorders clinic between January 2023 and May 2023. In addition to demographic and clinical features, the levodopa equivalent dose, nonmotor symptoms scale score, and Movement Disorders Society-Unified Parkinson's Disease Rating Scale score were evaluated. SSRs were studied during the medication-ON and medication-OFF periods by a trained neurophysiologist.

Results: Overall, 22 patients with PD were enrolled in the study. The mean age of the patients was 59 ± 8.1 y. The correlation analyses between the clinical features and SSR parameters revealed only a moderate positive correlation between age and the latency of the SSR (left side). Repeated analysis of covariance revealed that the latencies of the SSR were shortened bilaterally in the medication-ON group (right, p=0.012; left, p=0.012).

Conclusion: We found electrophysiological evidence regarding the corrective effect of levodopa on autonomic dysfunction (AD) in PD patients. An investigation of the possible levodopa response of the clinical features related to AD might contribute to the unknown pathomechanisms of AD in PD patients.

According to the World Health Organization (WHO), a sharp increase in the prevalence of mental disorders is expected, and by 2030, the amounts spent on treating depression will constitute the largest health care ex- penditure worldwide. Preliminary estimates also highlight the importance of focusing on any therapeutic approaches that can slow down this trend. Lifestyle medicine, particu- larly regular physical exercise, plays a crucial role as a low-intensity psychological interven- tion. Regular physical exercise is a widely accessible and effective tool for both preven- tion and therapeutic intervention. It impacts all organ systems of the body, and therefore, regardless of age, it significantly contributes to the development and maintenance of both physical and mental health, improves quality of life, and increases life expectancy. A significant portion of mental disor- ders remains undiagnosed and, therefore, untreated. This makes physical exercise par- ticularly important in preventing the devel- opment of psychopathological symptoms in both childhood and adulthood. Despite the long-known positive effects of regular physi- cal exercise, it is rarely mentioned in medical literature and, with few exceptions, is almost entirely absent from treatment protocols. In our summary paper, we integrate foun- dational knowledge from sports science, psy- chopathology, and psychotherapy, aiming for a multidisciplinary, comprehensive approach to treatment. This highlights the potential of regular physical exercise as a medica- tion and an effective therapeutic tool in the treatment of mental disorders, often even as monotherapy. The scope of the paper is to demonstrate how the symptoms of mental disorders can be prevented or  alleviated through regular physical exercise - one of the pillars of lifestyle medicine - as a low-intensity intervention.

The number of patients treated with direct oral anticoagulants (DOACs) is significantly increasing. In acute ischemic stroke, systemic thrombolysis is currently contraindicated for patients who have received DOAC treatment within the last 48 hours. Therefore, it is crucial to assess the continuity of treatment and patient compliance. However,  accurate history is often unavailable. The anticoagulant effect of DOACs can be detected using viscoelastic tests performed by the thromboelastograph (ClotPro®). In our study, we conducted Russell's viper venom (RVV) and Ecarin assay (ECA) tests using a thromboelastograph in 25 patients with acute ischemic stroke who were potentially taking DOACs but were unable to provide an accurate history. Based on the coagulation time, we obtained information regarding the effect of the anticoagulant treatment, and thus compliance, which aided in assessing the eligibility for thrombolysis.  In 11 cases, we observed the ineffectiveness  of the DOAC therapy, 9 of which were later confirmed by heteroanamnesis. These tests enabled thrombolysis in 4 patients. Hemorrhagic complication was observed in one case, which was caused by an underlying, previously undiagnosed chronic lymphocytic leukemia. In the cases we observed, DOAC-specific viscoelastic  tests (RVV, ECA) provided rapid information regarding DOAC administration within the last 48 hours, allowing the identification  of the patients who were eligable for thrombolysis. Overall, these tests assist clinicians in determining compliance,   assessing the possibility of thrombolysis, and reducing the time required to make treatment decisions.

Background and purpose: During an epileptic seizure, cortical neurons produce patterns of excessive synchronized electric discharge, which leads to various neurobio- logical, cognitive, and affective consequenc- es. At least 70% of epileptic patients can be characterized by varying degrees of cogni- tive deficits that may extend to language, executive functions and memory functioning. Drug-refractory epilepsy (DRE), which affects about one third of the patient population can negatively affect everyday functioning and quality of life. This pilot study aims to construct and examine the neuropsycho- logical profile of people with DRE within the framework of a longitudinal research project.

Methods: A total of 33 subjects (21 women and 12 men; age range: 21-66 years, M = 41.49, SD = 15.75) were included in our study. A number of 17 drug-resistant epilepsy patients (13 women and 4 men; age range: 21-66 years, M = 46.6, SD = 13.5) and 16 matched controls (8 women and 8 men; age range: 23-59 years, M = 34.13, SD = 17.52) were included in the sample. The Montreal Cognitive Assessment was used as a preliminary screening tool. Executive functions were assessed by the letter and semantic fluency tests, visuo-spatial memory was tested using the Rey-Osterrieth Complex Figure Test (ROCFT), and language functions were assessed using the De Renzi Token Test.

Results: Our results showed significantly lower performance in the patient group compared to controls regarding almost all executive functions (verbal fluency tasks, p < 0,05), memory functions (ROCFT delayed recall, p = 0.02) and the Token test assessing language functions (p = 0.009).

Conclusion: Consistent with the literature data, DRE patients in this study sample performed significantly worse than the control group in both higher-order cognitive functioning, memory functioning and speech comprehension. The present test battery can be used to map the cognitive profile of DRE patients.

Background and purpose: The role of synaptic dysfunction in focal epilepsy of unknown cause is not well understood. Neurogranin is a post-synaptic protein used as a biomarker of synaptic disintegration in patients with dementia.

Methods: To evaluate the association between synaptic loss, cognitive impairment and seizure activity in epilepsy, we collected sera of 51 patients with focal epilepsy of unknown cause, 26 with frontal lobe epilepsy (FLE) and 25 with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLEHS), and 25 healthy controls. Serum neurogranin levels were measured by ELISA and we sought for potential correlations between neurogranin levels versus clinical features, cognitive test and quality of life scores of the patients.

Results: Neurogranin levels were significantly reduced in MTLE-HS patients as compared to FLE patients and healthy controls but were not correlated with any of the clinical and cognitive variables. Both FLE and MTLE-HS patients with treatment resistance showed significantly reduced neurogranin levels.

Conclusion: Our results suggest that MTLE-HS patients suffer from reduced synaptic protein production rather than increased synaptic breakdown. Reduction of neurogranin is associated with resistance to anti-epileptic treatment implying the role of this protein in the control of seizures. Neurogranin might serve as a biomarker for monitorization of seizure activity in focal epilepsies.