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

Cholinesterase inhibitors and memantine for the treatment of Alzheimer and non-Alzheimer dementias


In aging societies, the morbidity and mortality of dementia is increasing at a significant rate, thereby imposing burden on healthcare, economy and the society as well. Patients’ and caregivers’ quality of life and life expectancy are greatly determined by the early diagnosis and the initiation of available symptomatic treatments. Cholinesterase inhibitors and memantine have been the cornerstones of Alzheimer’s therapy for approximately two decades and over the years, more and more experience has been gained on their use in non-Alzheimer’s dementias too. The aim of our work was to provide a comprehensive summary about the use of cholinesterase inhibitors and memantine for the treatment of Alzheimer’s and non-Alzheimers’s dementias.

Clinical Neuroscience

[Diabetes, dementia, depression, distress]

SZATMÁRI Szabolcs, ORBÁN-KIS Károly, MIHÁLY István, LÁZÁR Alpár Sándor

[The number of people living with diabetes continues to rise. Therefore neurologists or other health care practitioners may be increasingly faced with comorbid neuropsychiatric disorders commonly presented by diabetic patients. More recently there has been an increasing research interest not only in the interactions between diabetes and the nervous system, the fine structure and functional changes of the brain, but also in the cognitive aspects of antidiabetic treatments. Patients with both types of diabetes mellitus may show signs of cognitive decline, and depression. Comorbid insomnia, anxiety, and distress may also occur. The bi-directional relationships between all these phenomena as well as their connection with diabetes can lead to further health and quality of life deterioration. Therefore it is important that all practitioners involved in the care of diabetic patients recognize the presence of comorbid neuropsychiatric disturbances early on during the healthcare process. Identifying higher risk patients and early screening could improve the prognosis of diabetes and may prevent complications.]

Clinical Neuroscience

Pulmonary physiotherapy and aerobic exercise programs can improve cognitive functions and functional ability

TEKESIN Aysel, TUNC Abdulkadir, GÜNGEN Dogan Belma, AVCI Nalan, BAKIS Muhammed, PERK Seyma

Objective - The increasing prevalence of dementia over the previous decades has been accompanied by numerous social and economic problems. The importance of exercise in the prevention of dementia coupled with the impact of aspiration pneumonia on the mortality and morbidity of dementia patients cannot be overstated. This study investigates the effects of pulmonary rehabilitation combined with aerobic stretching exercises on the cognitive function, life quality, effort capacity, and level of depression in patients with mild cognitive impairment (MCI) in the early stages of dementia. Methods - Sixty-nine patients with MCI diagnosis were routinely monitored, and six were excluded because they did not attend the follow-up appointments. The remaining 63 patients undertook pulmonary physiotherapy (PPT) and extremity exercises for six months. The mini-mental state examination (MMSE), six-minute walk test (6MWT), Nottingham health profile (NHP), and Beck depression inventory (BDI) scores were evaluated before and after exercise. Results - PPT plus extremity exercises appeared to significantly improve the MMSE scores and increase the 6MWT (p < 0.001) by an average of 25 m. No significant improvement was observed in the BDI and NHP scores. Conclusion - PPT and aerobic exercise positively affected the cognitive ability of MCI patients and improved their walking distance. These results underscore the importance of combining medical treatment with physical rehabilitation at the onset of dementia, a disease which exerts a significantly negative impact on the economy.

Hypertension and nephrology

[Hypertension, cognitive function and dementia – Significance of antihypertensive therapy]

GAJDÁN Nikolett, ÁBRAHÁM György

[The significance of hypertension as one of the major cardiovascular risk factor is unquestionable. By achieving target blood pressure values differentiated by age and comorbidities, the risk of cardiovascular events can be significantly reduced. However, it is essential to the quality of life the patient spends the extra years of life thus gained. This is a really complex issue affecting many co-disciplines, but one of the most important of these is the mental health, maintaining cognitive functions, and avoiding dementia. High blood pressure impairs the blood supply to the target organs, including the brain, by damaging the smooth muscle of the arteries and accelerating atherosclerosis, which increases the risk, the frequency and the severity of mental decline in proportion to the degree of tension. This means serious implications not only for the individual, but for the family and the society, as well. A particular contradiction is that treating blood pressure to the target range does not automatically means preserving cognitive functions and avoiding the risk of dementia. Meta-analyzes of large studies have shown differences between the individual antihypertensive groups have been confirmed in this respect as well. Inhibitors of the renin-angiotensin system and calcium antagonists – mainly dihydropyridines – appear to be a priority in this regard. The authors provide an overview of the relationship between hypertension and mental abilities, with a review of the literature on the effects of antihypertensive therapy, with particular reference to the effects on cognitive function and dementia. ]

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.]