Clinical Neuroscience

[Genetically determined diseases associated with pathological brain iron accumulation and neurodegeneration]

ÁCS Péter1, MOLNÁR Mária Judit2, KLIVÉNYI Péter3, KÁLMÁN Bernadette4

MAY 30, 2016

Clinical Neuroscience - 2016;69(05-06)

DOI: https://doi.org/10.18071/isz.69.0157

[The rare, genetically determined group of diseases characterized by pathological accumulation of iron in the central nervous system and progressive, typically movement disorder’s symptoms are called NBIA (neurodegeneration with brain iron accumulation). By the rapid development of molecular genetics, it has become apparent that different mutations in numerous genes can lead to pathological cerebral iron accumulation. Simultaneously, it has also been recognized that the age of onset, the symptoms and the prognosis of NBIA disorders are much more diverse than it was previously perceived. To our knowledge, a review article on the most recent clinical data of NBIA has not been published in Hungarian. In the first part of this publication, we survey the general clinical characteristics and the diagnostic algorithm of NBIA diseases and address some considerations for differential diagnostics. In the second part of this review, the particular NBIA disorders are presented in details. The purpose of this article is to provide a clinical overview that may be useful for neurologists, pediatricians and any other medical practitioners interested in this field.]

AFFILIATIONS

  1. Pécsi Tudományegyetem, Neurológiai Klinika, Pécs
  2. Semmelweis Egyetem, Genomikai Medicina és Ritka Betegségek Intézete, Budapest
  3. Szegedi Tudományegyetem, Neurológiai Klinika, Szeged
  4. Pécsi Tudományegyetem, ETK, Markusovszky Egyetemi Oktatókórház, Szombathely

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Clinical Neuroscience

[Disease burden of Duchenne muscular dystrophy patients and their caregivers]

PÉNTEK Márta, HERCZEGFALVI Ágnes, MOLNÁR Mária Judit, SZŐNYI László Pál, KOSZTOLÁNYI György, PFLIEGLER György, MELEGH Béla, BONCZ Imre, BRODSZKY Valentin, BAJI Petra, SZEGEDI Márta, POGÁNY Gábor, GULÁCSI László

[Background and purpose - Data on the disease burden of Duchenne Muscular Dystrophy are scarce in Hungary. The aim of this study was to assess patients’ and their caregivers’ health related quality of life and healthcare utilisations. Methods - A cross sectional survey was performed as part of the European BURQOL-RD project. The EQ-5D-5L and Barthel Index questionnaires were applied, health care utilisations and patients’ informal carers were surveyed. Results - One symptomatic female carer, 50 children (boys 94%) and six adult patients (five males) participated in the study, the latter two subgroups were included in the analysis. The average age was 9.7 (SD=4.6) and 24.3 (SD=9.8) years, respectively. Median age at time of diagnosis was three years. The average EQ-5D score among children and adults was 0.198 (SD=0.417) and 0.244 (SD=0.322), respectively, the Barthel Index was 57.6 (SD=29.9) and 53.0 (SD=36.5). Score of satisfaction with healthcare (10-point Likert-scale) was mean 5.3 (SD=2.1) and 5.3 (SD=2.9). 15 children were hospitalised in the past 12 months for mean 12.9 (SD=24.5) days. Two patients received help from professional carer. 25 children (mean age 11.1, SD=4.4 years) were helped/supervisied by principal informal carer (parent) for mean 90.1 (SD=44.4) hours/week and further family members helped in 21 cases. Correlation between EQ-5D and Barthel Index was strong and significant (0.731; p<0.01) as well as with informal care time (-0.770; p<0.01), but correlation with satisfaction with health care was not significant (EQ-5D: 0.241; Barthel Index: 0.219; informal care: -0.142). Conclusion - Duchenne muscular dystrophy leads to a significant deterioration in the quality of life of patients. Parents play outstanding role in the care of affected children. This study is the first in the Central and Eastern European region that provides quality of life data in this rare disease for further health economic studies.]

Clinical Neuroscience

[The changes in quality of life after instrumented surgical fusion of degenerative spondylolisthesis]

SÁRÓ Enikő, MISIK Ferenc, BANCZEROWSKI Péter

[Objective - There is no internationally accepted guideline for treatment of spondylolisthesis in the literature, otherwise this degenerative disease has great social and economical impact. There is no hungarian study examining the efficacy of instrumented fusion procedure in surgical treatment of spondylolisthesis. In current study we examined the effectiveness of fusion technique focusing on the impact of quality of life. Methods - Between 1st January, 2011 and 30th June, 2012 we examined a group of patients - who were operated on by instrumented fusion technique because of spondylolisthesis -, in the National Institute of Clinical Neurosciences, using the Oswestry Low Back Disability Questionnaire. All patients were treated after ineffective conservative treatment. The question was wheather how has changed the patients’ quality of life after the operation. Paired-sample t-test was used in this study. Results - Eighty-eight of the 97 examined patients reported different levels of impovement in the postoperative period, two patient’s condition has not changed in spite of the surgery, seven patient’s condition showed progression in average one year after the surgery. The pain improved most significantly (55.5%) (p<0.0001). Using the 16 point borderline according to the Questionnaire (over moderate disability), significant improvement was detected in 50 patients (51.5%). Succesful surgical result - according to the quality of life - was seen in 77.41% of male and in 50.98% of female patients. According to the different age groups, 72.72% of the younger (before retirement), and 53.06% of the retired patients belonged to this group. At least 15 point improvement was detected 35.05% of the patients, the overall improvement was 10.5 point. Discussion - Our results proved effectiveness of instrumented surgical fusion procedure in the treatment of degenerative spondylolisthesis. According to our results the younger male population with significant symptoms is the group, where improvement in quality of life is more pronaunced after the surgical procedure. Conclusion - The instrumented fusion surgical technique provides successful clinical and surgical outcome in patients with degenerative spondylolisthesis. It could improve the quality of life. Althought multicentre follow-up studies are needed to determine the exact indication and optimal therapy.]

Clinical Neuroscience

The relationship between serum cholesterol and verbal memory may be influenced by body mass index (BMI) in young healthy women

DARNAI Gergely, PLÓZER Enikõ, ALTBACKER Anna, PERLAKI Gábor, ORSI Gergely, KŐSZEGI Tamás, NAGY Szilvia Anett, LUCZA Tivadar, KOVÁCS Norbert, JANSZKY József, CLEMENS Zsófia

The objective of this study was to examine the relationship between verbal memory and total cholesterol (TC) levels related to body mass index (BMI) in healthy young women. Verbal memory was assessed using the Rey Auditory-Verbal Learning Test (RAVLT) while total serum cholesterol was measured by enzymatic colorimetric test. In order to analyze the potential significance of BMI subjects were divided into three groups according to their calculated BMI percentile values. No significant correlation was found when assessing the group as a whole. However a remarkable pattern of correlation emerged when assessing the BMI groups separately: a close-to-significant positive correlation was found for total learning score and TC in the low BMI group, no correlation emerged in the medium BMI group while a strong inverse correlation was found in the high BMI group. These findings indicate that the relationship between verbal memory and serum TC level is also influenced by BMI.

Clinical Neuroscience

Comparison TachoComb with SurgiWrap, Surgicel and Lyodura in epidural fibrosis: An experimental rat model

HUSEYIN Karasu, IŞIL Güzel

Objectives - We designed this study to evaluate the effect of TachoComb and to compare it with SurgiWrap, Surgicel, and Lyodura in an experimental rat model for epidural fibrosis (EF). Methods - This prospective and experimental rat model study was performed at Dicle University, School of Medicine, Department of Neurosurgery, in Diyarbakır, Turkey, between January 2005 and June 2005, using 50 Sprague Dawley rats (30 female and 20 male) with a mean weight of 290 g. The rats were divided into five groups: TachoComb, Surgicel, SurgiWrap, Lyodura, and control. Results - Eight weeks after laminectomy, the rats were killed and EF was evaluated. EF was statistically different between the groups. The lowest EF score was in the TachoComb group (F=6.915, p<0.001). Conclusions - According to this study, TachoComb was found to be a more effective agent in decreasing EF than Surgicel, SurgiWrap, or Lyodura.

Clinical Neuroscience

[New opportunities in neuro-rehabilitation: Robot mediated therapy in conditons post central nervous system impairments]

FAZEKAS Gábor, TAVASZI Ibolya, TÓTH András

[Decreasing the often-seen multiple disabilities as a consequence of central nervous system impairments requires broadening of the tools of rehabilitation. A promising opportunity for this purpose is the application of physiotherapy robots. The development of such devices goes back a quarter of century. Nowadays several robots are commercially available both for supporting upper and lower limb therapy. The aim is never to replace the therapists, but rather to support and supplement their work. It is worthwhile applying these devices for goal-oriented exercises in high repetition, which one physically fatiguing for the therapist or for the correction of functional movement by various strategies. Robot mediated therapy is also useful for motivation of the patient and making the rehabilitation programme more versatile. Robots can be used for assessment of the neuromotor status as well. Several clinical studies have been executed in this field, all over the world. Meta-analyses based on randomized, controlled trials show that supplementing the traditional physiotherapy with a robot-mediated component presents advantage for the patients. Further studies are necessary to clarify which modality and intensity of the exercises, in which group of patients, in which stage lead to the expected outcome.]

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Clinical Neuroscience

[Treatment of dystonia by deep brain stimulation: a summary of 40 cases]

DELI Gabriella, BALÁS István, KOMOLY Sámuel, DÓCZI Tamás, JANSZKY József, ILLÉS Zsolt, ASCHERMANN Zsuzsanna, TASNÁDI Emese, NAGY Ferenc, PFUND Zoltán, BÓNÉ Beáta, BOSNYÁK Edit, KULIFFAY Zsolt, SZIJJÁRTÓ Gábo

[Background - Bilateral pallidal deep brain stimulation (DBS) is an established treatment option for primary generalized and segmental dystonia. In the present study we evaluated the results of our dystonia patients treated by DBS. Methods - The surgical results of forty consecutive dystonia patients underwent DBS implantation were analyzed (age: 43.7±17.7 years; sex: 22 men; etiology: 24 primary and 16 secondary dystonia; topography: 24 generalized, 12 segmental and four hemidystonia; disease duration: 16.1±9.3 years). Severity of dystonia measured by Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and health-related quality of life measured by EQ-5D scale were obtained preoperatively and compared to the scores obtained at postoperative six months and subsequent yearly follow-ups. The average follow-up lasted 2.5 years (median, 0.5-8 years). In all cases the BFMDRS scores were re-evaluated by a rater blinded to the treatment. Treatment responsiveness was defined as an at least 25% improvement on the BFMDRS scores. Non-parametric Mann-Whitney, McNemar and Kruskal-Wallis tests were applied to test statistical significance. Results - Severity of dystonia improved from 31 to 10 points (median, 68% improvement, p<0.01) in the primary dystonia group, whereas in secondary dystonia these changes were statistically insignificant (improvement from 40 to 31.5 points, 21.2%, p>0.05). However, the health-related quality of life significantly improved in both groups (primary dystonia: 0.378 vs. 0.788 and secondary dystonia: 0.110 vs. 0.388, p<0.01). Significantly more patients in the primary dystonia group responded to DBS treatment than those in the secondary dystonia group (83.3% vs. 37.5%, p<0.01). Conclusion - Our results are in accordance with previously published international findings demonstrating that DBS is a highly effective and long-lasting treatment option for primary dystonia. DBS is considerably less efficient in secondary dystonia; however, it still has a high impact on the quality of life presumably due to its pain-relieving effect.]

Clinical Neuroscience

[CLINICAL FEATURES OF CORTICOBASAL DEGENERATION]

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[Corticobasal degeneration was described in 1968 by Rebeiz, Kolodny and Richardson, who characterized the disease as a syndrome of asymmetric akinesis and rigidity, dystonia of the upper limb, apraxia, myoclonus and dementia. Atrophy of the frontal and parietal lobe, neuronal loss, gliosis and achromatic neurones (and nowadays astrocytic plaques) are the characteristic pathological features of the disease. Corticobasal degeneration is a rare or a rarely recognized disease and it is frequently misdiagnosed as Parkinson’s disease. According to the Lang’s criteria, corticobasal degeneration can be diagnosed in the presence of rigidity and one cortical symptom (apraxia, cortical sensory loss, alien hand) or in a patient with rigidity, dystonia and focal reflex myoclonus. Exclusion criteria are early dementia (as in primary degenerative dementias), early vertical gaze problems (as in progressive supranuclear palsy), resting tremor and good, sustained therapeutic response to levodopa (as in Parkinson’s disease), severe autonomic problems (as in multiple system atrophy) and any pathology on imaging studies which might explain the clinical symptoms. It should be mentioned, that recently early dementia is recognized as an initial symptom of corticobasal degeneration. The authors present a case and review the literature to call attention to this disorder.]

Lege Artis Medicinae

[Deep brain stimulation: a breakthrought in the treatment of movement disorders]

KOVÁCS Norbert, BALÁS István, LLUMIGUANO Carlos, ASCHERMANN Zsuzsanna, NAGY Ferenc, JANSZKY József, DÓCZI Tamás, KOMOLY Sámuel

[Over the last 20 years, it became clear that deep brain stimulation is a breakthrough in the treatment of drug-resistant movement disorders. Stimulation acts by functional inhibition of certain pathologically hyperactive nuclei. Of advantage is that the patient himself can change stimulation parameters depending on his actual status, thus reaching optimal quality of life. This option has been available for years in Hungary, as well. It is a safe, effective and cost-effective alternative in the symptomatic management of drug-refractory Parkinson’s disease, essential tremor, and primary dystonia. Before surgery, a comprehensive investigation including clinical diagnosis, severity, surgery contraindications, and expected benefit has to be performed. Based on the results of international multicenter studies, bilateral subthalamic nucleus stimulation may improve - besides symptoms, such as tremor, rigidity, bradykinesia and levodopa-induced side effects - also quality of life in Parkinson’s disease. In essential tremor, stimulation of the ventral intermediate nucleus of the thalamus is capable of spectacularly decreasing tremor. For primary dystonias, stimulation of the pallidum can improve drug-resistant symptoms and quality of life, and it substantially reduces social dependency and the amount of nursing required. In childhood dystonias, surgery may be performed at an age of as low as seven years.]