Clinical Neuroscience

[The first identified Central-Eastern European patient with genetically confirmed dentatorubral-pallidoluysian atrophy]

ZÁDORI Dénes, TÁNCZOS Tímea, JAKAB Katalin, VÉCSEI László, KLIVÉNYI Péter

JANUARY 30, 2015

Clinical Neuroscience - 2015;68(01-02)

[Aims - Dentatorubral-pallidoluysian atrophy (DRPLA) is an inherited neurodegenerative disorder characterized by a trinucleotide repeat expansion. The disease mainly occurs amongst the Japanese and is extremely rare in the European population. The characteristic clinical symptoms are cerebellar ataxia, dementia, choreoathetoid movements, epileptic seizures and myoclonus. The aim of this study is to present the first genetically confirmed Hungarian case of DRPLA. Case report - The middle-aged female patient developed the characteristic clinical symptoms except myoclonus over her late thirties with positive family history. The major finding in the skull magnetic resonance imaging was the atrophy of infratentorial brain structures with the consequential dilation of related cerebrospinal fluid spaces. A detailed neuropsychological examination was also performed and it revealed moderate cognitive dysfunctions, mild depression and anxiety. As underlying conditions, Huntington’s disease and common spinocerebellar ataxia forms all came into consideration, but all the result of the respective genetic tests were negative. However, the test for mutation in the ATN1 gene revealed pathological heterozygous CAG repeat expansion. Conclusion - This case study serves as the first description of genetically confirmed DRPLA in the Central-Eastern region of Europe, the clinical features of which seems to be very similar to the previously reported cases.]

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Clinical Neuroscience

[The efficacy of lacosamide in relation to antiepileptic drug history. Clinical experiences in adult partial epilepsy]

BARCS Gábor, SZŰCS Anna, HORVÁTH András, KAMONDI Anita

[Objective - A retrospective study in adult partial epilepsy on the efficacy of lacosamide in relation to previous antiepileptic drug experiences. Method - We analysed 3-65 months’ data on epilepsy-care of 43 pharmacoresistant partial epilepsy patients treated with lacosamide. Further analysis of antiepileptic drug history was carried out in strictly selected subgroups of patients with good and poor therapeutic response to lacosamide (10 and 9 patients, respectively) for 2-10 years long retrospective follow up. Patients - Adult patients with partial-onset seizures had been treated previously with three or more lifetime antiepileptic drugs without permanent success. Results - Six patients (14%) were seizure free, eleven patients (25%) have experienced important improvement (their seizure-frequency decreased by at least 50%) for more than 12 months. Fourteen patients (32%) improved for less than 6 months and then have relapsed; and add-on lacosamide proved ineffective in 12 patients (28%). Those selected 10 patients successfully treated with lacosamide (seizure free for at least six months) favourably responded to carbamazepine or oxcarbazepine earlier and levetiracetam was ineffective or even caused worsening. The selected lacosamide-unresponsive nine patients responded unfavourably to carbamazepine or oxcarbazepine earlier. Fifteen patients (35%) suffered side effects as dizziness or sleepiness, in 11 of them lacosamide was combined with a „traditional” sodium-channal blocker antiepileptic drug. Conclusion - Lacosamide is an effective add-on antiepileptic drug in difficult-to treat adult partial epilepsy patients. Our data suggest that good lacosamide response may be expected in those patients who reacted favourably to „traditional” sodium-channel blocker carabamazepine or oxcarbazepine earlier.]

Clinical Neuroscience

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FEKETE Gábor, NOVÁK László, ERÕSS Loránd, FABÓ Dániel, BOGNÁR László

[Objective - We summarize our experiences on intraoperative electrophysiological monitoring during neurosurgical procedures on eloquent neuronal structures. Patients, methods - Sixty patients were enrolled retrospectively in our study with pathologies involving eloquent neuronal structures. They were operated between May 2011. and March 2012. at the University of Debrecen, Department of Neurosurgery and at the National Institute of Neurosciences. Patients underwent standard preoperative examinations due to the primary pathology. In all cases we used intraoperative electrophysiological monitoring. We had 22 cases with cranial nerve monitoring, 10 cases with cauda monitoring, 16 cases with motor system monitoring, six cases with complex spinal cord monitoring, three degenerative spine reconstructions and 3 awake surgeries. Results - We found that with the use of intraoperative electrophysiology we could make these neurosurgical procedures safer, and were able to optimize the extent of resection in the cases of oncological pathologies. Conclusions - Our experiences as well as the international literature suggests that in certain high risk neurosurgical procedures intraoperative electrophysiology is indispensible for safe and optimally extended operation.]

Clinical Neuroscience

[Treatment of osteoporotic vertebral compression fracture with PMMA augmented pedicle screw fixation]

PADÁNYI Csaba, MISIK Ferenc, PAPP Zoltán, VITANOVICS Dusan, BALOGH Attila, VERES Róbert, LIPÓTH László, BANCZEROWSKI Péter

[Background - Over the last few decades many innovative operation technique were developed due to the increase of porotic vertebral fractures. These new techniques aim to reach the required stability of the vertebral column. In case of significant instability, spinal canal stenosis or neural compression, decompressive intervention may be necessary, which results in further weakening of the column of the spine, the minimal invasive percutan vertebroplasty is not an adequate method to reach the required stability, that is why insertion of complementary pedicular screws is needed. Considering the limited screw-fixing ability of the porotic bone structure, with this new technique we are able to reach the appropriate stability of cement-augmented pedicle screws by dosing cement carefully through the screws into the vertebral body. We used this technique in our Institute in case of 12 patients and followed up the required stability and the severity of complications. Methods - Fifteen vertebral compression fractures of 12 patients were treated in our Institute. Using the classification proposed by Genant et al. we found that the severity of the vertebral compression was grade 3 in case of 13, while grade 2 in case of two fractures. The average follow up time of the patients was 22 months (12-39), during this period X-ray, CT and clinical control examinations were taken. During the surgery the involved segments were localised by using X-ray and after the exploration the canulated screws were put through the pedicles of the spine and the vertebral body was filled through the transpedicular screws with bone cement. Depending on the grade of the spinal canal stenosis, we made the decompression, vertebroplasty or corpectomy of the fractured vertebral body, and the replacement of the body. Finally the concerned segments were fixed by titanium rods. Results - In all cases the stenosis of spinal canal was resolved and the bone cement injected into the corpus resulted in adequated stability of the spine. In case of six patients we observed cement extravasation without any clinical signs, and by one patient - as a serious complication - pulmonary embolism. Neurological progression or screw loosening were not detected during the follow up period. Part of the patients had residual disability after the surgery due to their older ages and the problem of their rehabilitation process. Conclusion - After the right consideration of indications, age, general health condition and the chance of successful rehabilitation, the technique appears to be safe for the patients. With the use of this surgical method, the stability of the spine can be improved compared to the preoperative condition, the spinal canal stenosis can be solved and the neural structures can be decompressed. The severity of complications can be reduced by a precise surgical technique and the careful use of the injected cement. The indication of the surgical method needs to be considered in the light of the expected outcome and the rehabilitation.]

Clinical Neuroscience

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[Background - Task related EEG spectra are promising markers of mental activity. But the cooperation of the patients necessary for the registration limits its application in the neuro-psychiatry. Methods - EEG difference spectra on counting (EDSC) - was developed to detect the effect of a short calculation task on the spectral EEG. The originality of the task situation is a continuous mental work in a very short period of time, while the level of task difficulty is adapted to the patient’s actual mental capacity. While the rest pre-task and the post task EEG sections were compared, the results show the mental “EEG fatigability” caused by the short intensive cognitive activity. The first preliminary results have been demonstrated by a comparative study of two healthy and three patient (probable Alzheimer disease, post-stroke state without mental deficit and mixed type of dementia) groups. Results - Similarly to the findings of other authors, in addition to the differences of the alpha band seen on the temporo-parieto-occipital regions, the frontal localization and the beta band seem to be prominent, too. Demented patients had stronger EEG reactions than post-stroke patients without mental deficits and healthy elder persons had more extensive changes than the younger ones. Conclusions - The test can be considered as indirect marker showing the different mental fatigability in diverse pathological conditions and during the aging process. Effect of therapeutic processes can also be followed based on “key-lock principle”. Standardization of the test is essential for the introduction of EDSC to the every-day routine of clinical neuropsychiatry.]

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