Clinical Neuroscience

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


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.]



Further articles in this publication

Clinical Neuroscience


RAJNA Péter, TAJTI János

Clinical Neuroscience

[Extending therapeutic possibilities in relapsing-remitting multiple sclerosis: dimethyl fumarate]


[Dimethyl fumarate (DMF) is a novel oral therapy that has recently been approved for the treatment of relapsing- remitting multiple sclerosis (RRMS). Dimethyl fumarate shows anti-inflammatory and cytoprotective properties that are thought to be mediated primarily via activation of the nuclear factor (erythroid-derived 2)-like 2 - Nrf2 transcriptional pathway, which up-regulates the genes involved in the cellular response to oxidative stress. The drug was evaluated in 2 large, randomized, double-blind, multicentric, multinational, 2-year, phase III clinical trials. The DEFINE and CONFIRM trials, conducted with over 2600 adult patients suffering from RRMS, unequivocally confirmed the efficacy of DMF (2×240 mg daily) in reducing the annualized relapse rate (ARR) and reducing the proportion of patients with MS relapse at 2 years. Significantly reduced sustained disability progression was observed with the drug versus placebo in DEFINE, while the same tendency was seen in CONFIRM. The MRI results of the studies were also convincing: DMF significantly reduced the number of new/enlarging T2-hyperintense lesions and the number of Gd-enhancing lesions compared to placebo. Dimethyl fumarate was generally well tolerated and no safety concern has been raised. Adverse events that occurred most frequently included flushing and gastrointestinal events. The long- term efficacy and tolerability of dimethyl fumarate is currently being investigated in the ENDORSE trial, with interim results demonstrating the same results as the two previous studies. In conclusion, although further, mostly comparative data are needed to fully establish the relative efficacy and tolerability of dimethyl fumarate compared with other therapies, dimethyl-fumarate is a valuable addition to the therapeutic options available for RRMS.]

Clinical Neuroscience

[Role of modified open-door laminoplasty in the treatment of multilevel cervical spinal stenosis: a retrospective analysis of 43 cases]


[Background and purpose - Symptomatic degenerative multilevel cervical spinal stenosis - beside other methods - is often treated using the open-door laminoplasty. This procedure aims to decompress the spinal cord and preserve the stability of the cervical spine. The efficiency and safety of the method was proved by numerous Japanese and American studies, also the technique related complications are well known. We treated 43 patients with symptomatic multilevel cervical spine stenosis using the open-door laminoplasty as a surgical procedure of choice in the National Institute of Clinical Neurosciences between 2009 and 2012. In this article we analyse our results and the related literature is discussed. Methods - Symptomatic patients with a minimum of three-segment cervical spine stenosis and radiologically proved myelopathy or with electrophisiologically verified subclinical myelopathy were selected for laminoplasty. Patients in whom cervical kyphosis was present were operated on using laminectomy and posterior fusion. Postoperative control CT, MRI and/or X-ray images were made after the surgery and at six weeks, three, six and 12 months after the operation and in the same time neurological evaluation was performed. The modified Japanase Orthopaedic Association (mJOA) scale value was assigned to patients preoperatively, six weeks, three, six and 12 months after the operation. The statistical difference between the groups of data was tested by chi square test. Results - The average follow-up time was 27 months (minimum seven, maximum 42). According to the mJOA scale, 26 patient’s condition (61%) improved, in 13 cases (30%) remained unchanged, and in one case (2%) we detected neurological deterioration. We lost three patients during the follow up period. The median of mJOA preoperatively was 12 (minimum eight, maximum 18), while six week postoperative mJOA was 14 (minimum 10, maximum 17). Three, six and 12 months mean value of mJOA was 14 which shows that the improvement in patients’ condition remained stable at one year after surgery. The difference was statistically significant (p<0.05). The canal’s average anteroposterior diameter on CT was 8.29±0.92 mm at the level of C III, while after the operation we measured 15.16±1.02 mm; 7.54±0.62 mm at the level of C IV before, and 15.29±0.2 mm after; 9.05±0.48 mm at the level of C V before and 17.23±0.4 mm after the surgery. The differences proved to be significant (p=0.0001). Conclusion - According to our experiences the modified open-door laminoplasty is an efficient and safe method for the treatment of symptomatic multilevel cervical spinal stenosis.]

Clinical Neuroscience

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


[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

[Assessment of severity and time course of critical illness neuropathy in septic patients: a prospective observational study]


[Objective - In this prospective observational study we investigated electrophysiological alterations in the early phase of critical illness and correlated electrophysiological findings with the clinical picture and outcome. Methods - We enrolled 21 critically ill surgical patients having ≥12 Acute Physiology and Chronic Health Evaluation (APACHE) II scores on admission. Routine non-invasive bilateral electroneurography (ENG) examination of median and ulnar nerves was done on five consecutive days starting in two days after admission. Then weekly follow-up was performed. Motor and sensory nerve conduction indices were calculated and correlated with APACHE II and Simplified Acute Physiology Score II severity scores. Results - On the first examination 18/21 patients had >20% reduction in the motor and sensory nerve conduction indices. Severity score systems showed significant negative correlation with the daily change of CMAP and SNAP amplitudes and calculated nerve conduction indices (Spearman’s correlation, p<0,001). Mortality was higher in the patients with worse admission ENG and/or stagnant electrophysiological status or declining tendency in the first week. Conclusions - Electrophysiological alterations appeared soon after the development of critical illness. Early phase alterations showed a strong correlation with patients’ general condition and more severe electrophysiological alterations predisposed to higher mortality. In several cases early alterations proved to be reversible. ]

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Clinical Neuroscience

[LADA type diabetes, celiac diasease, cerebellar ataxia and stiff person syndrome. A rare association of autoimmune disorders]

SOÓS Zsuzsanna, SALAMON Mónika, ERDEI Katalin, KASZÁS Nóra, FOLYOVICH András, SZŰCS Anna, BARCS Gábor, ARÁNYI Zsuzsanna, SKALICZKI József, VADASDI Károly, WINKLER Gábor

[Celiac disease - in its typical form - is a chronic immunemediated enteropathy with typical clinical symptoms that develops against gliadin content of cereal grains, and is often associated with other autoimmune diseases. In cases of atypical manifestation classic symptoms may be absent or mild, and extra-intestinal symptoms or associated syndromes dominate clinical picture. The authors present a longitudinal follow-up of such a case. A 63-years old woman was diagnosed with epilepsy at the age of 19, and with progressive limb ataxia at the age of 36, which was initially thought to be caused by cerebellar atrophy, later probably by stiff person syndrome. At the age 59, her diabetes mellitus manifested with type 2 diabetic phenotype, but based on GAD positivity later was reclassified as type 1 diabetes. Only the last check-up discovered the celiac disease, retrospectively explaining the entire disease course and neurological symptoms. By presenting this case, the authors would like to draw attention to the fact that one should think of the possibility of celiac disease when cerebellar ataxia, progressive neurological symptoms and diabetes are present at the same time. An early diagnosis may help to delay the progression of disease and help better treatment.]

Clinical Neuroscience

[The application of RBANS (Repeatable Battery for the Assessment of Neuropsychological Status) in neurocognitive testing of patients suffering from schizophrenia and dementia]

JUHÁSZ Levente Zsolt, KEMÉNY Katalin, LINKA Emese, SÁNTHA Judit, BARTKÓ György

[Introduction - The purpose of our study was to find out whether the Hungarian adaptation of the RBANS (Repeatable Battery for the Assessment of Neuropsychological Status), a brief neurocognitive screening test, is appropriate for the differentation of healthy and non-healthy subject groups, or for the detection of differences between the cognitive performance of patient groups. Patients and method - The test battery was administrated to 38 healthy subjects, 69 schizophrenic patients, and 18 patients suffering from dementia (10 probable Alzheimer-type and eight vascular dementia). Results - There was a significant decrease of performance in all patient groups compared to the healthy group. In the schizophrenic group, the test indicated a deterioration of functioning in all cognitive areas. The patient group with Alzheimer-type dementia performed only slightly better than the schizophrenic group, because the fall of performance was not significant only one of the cognitive areas (in the visuo-spatial tasks) when compared to the healthy group. There was no difference between the performance of patients with vascular dementia and that of healthy subjects in direct memory, verbal and visuo-spatial tasks. The test results indicated an even deterioration of cognitive areas in patients with Alzheimer-type dementia. As for the vascular dementia group, the most vulnerable area proved to be that of attention, while their verbal functions were relatively spared. The deterioration in other cognitive functions shown by schizophrenic subjects was more moderate, but still significant. A comparison of the RBANS scores of the schizophrenic patients in our study and the result of an American study was also carried out. The global indeces showed no difference; only the pattern of the sub-scales was a little different. Conclusion - The Hungarian version of the RBANS seems appropriate for the differentiation of healthy and deteriorated cognitive performance in a Hungarian patient population.]

Lege Artis Medicinae

[The effects of angiotensin receptor blockers on the nervous system in hypertension and dementia]


[The renin-angiotensin system (RAS) is one of the most important mechanisms regarding the pathomechanism and treatment of hyprtension. The most of the elements of the RAS are found in the nervous system too. The effect of angiotensin converting enzyme inhibitors and angiotensin receptor blockers (ARBs) is based on the inhibition of the RAS. ARBs might have a special role in the central nervous system because they do not decrease the production of angiotensin but inhibit its harmful effects mediated through the AT1 receptor while allowing the stimulation of AT2 receptors with resulting pleiotrophic actions. Hypertension is the most important risk factor for stroke and has a negative effect on cognitive functions. Antihypertensive treatment has an effect on the nervous system; in addition to the consequences of the reduced blood pressure, ARBs might provide additional advantages in stroke and dementia prevention.]

LAM Extra for General Practicioners



[Statins have become crucial components of the therapy of cardiovascular diseases. Beyond their cholesterol-lowering effect, statins turned out to have further beneficial effects on various vascular mechanisms. One of the best known effects is antithrombotic capacity, which is related partly to platelet function and partly to the coagulation cascade. Besides experimental observations, interventional clinical trials have also demonstrated that statins have an antithrombotic effect both in arterial and venous thrombosis. Regarding the effects of statins on dementia, previous studies with relatively small sample sizes had controversial results. Recently, two observational studies of tens of thousands of elderly patients reported that statins reduce the incidence of nonvascular dementia. Evaluation of the data revealed that statins have pleiotropic effects in this case, too. The results discussed here shed light on new benefits of statin therapy used for reducing cardiovascular mortality, namely the prevention of thrombotic events and dementia. These benefits are related to the antithrombotic and anti-inflammatoric capacity of statins.]

Journal of Nursing Theory and Practice

[Associated factors of independency in older adults with cognitive impairment living in a long term care institute]


[Aim of the research: Functional independence determines the elderly’s health and quality of life. In them cross-sectional study the authors analysed the associations between functional abilities (balance, gait, functional mobility, cognitive abilities), age, BMI and comorbidities and independency in older adults with cognitive impairment. Research and sampling methods: 110 elderly people were measured. Self-sufficiency was measured by the Katz-index, balance, and gait by the Tinetti Test and functional mobility by the Timed Up and Go Test. Correlations between variables were analysed with the Spearman’s rank-order correlation. Results: There was strong association between balance (r=0,557), gait (r=0,515), functional mobility (r=-0,647), and independency. It means the better the balance, gait, and functional mobility is, the higher the independency is. There was weak association between age, BMI, cognitive abilities, comorbidities and independency. Conclusion: Results show that preserving of the functional independence in older adults with cognitive impairment is a multidisciplinary task: physiotherapists and nurses should work together to complete doctors’ curative work of chronic diseases.]