Clinical Neuroscience

[The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon’s disease patients]

BALICZA Péter1, BEREZNAI Benjámin1, TAKÁTS Annamária1, KLIVÉNYI Péter2, DIBÓ György2, HIDASI Eszter3, BALOGH István4, MOLNÁR Mária Judit1

JULY 30, 2012

Clinical Neuroscience - 2012;65(07-08)

[Parkinson’s disease is a promising target of applying personalized medicine. For this purpose it is crucial to reveal the genetic and environmental factors, which contribute to the disease, also to collect epidemiologic data and to preserve the patients samples and data in a proper biobank. In our investigation we examined the prevalence of the most frequent Parkinson’s disease causing LRRK2 G2019S mutation in a Hungarian Parkinson-patient group. From 120 patients, we haven’t detected this substitution in anyone. Our investigation suggest that the mutation LRRK2 G2019S may be a rare cause of Parkinson disease in the Hungarian population.]

AFFILIATIONS

  1. Semmelweis Egyetem, Neurológiai Klinika, Molekuláris Neurológiai Klinikai és Kutatási Központ, Budapest
  2. Szegedi Tudományegyetem, Neurológiai Klinika, Szeged
  3. Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, Neurológiai Klinika, Debrecen
  4. Debreceni Egyetem, Orvos- és Egészségtudományi Centrum, Klinikai Biokémiai és Molekuláris Patológiai Intézet, Debrecen

COMMENTS

0 comments

Further articles in this publication

Clinical Neuroscience

[Diagnosis and therapy of mitochondrial diseases]

PÁL Endre

[Mitochondrial diseases are a significant part of neuromuscular diseases. Majority of them is multisystemic disorder. The diagnosis can be established in more and more cases. Beyond the routine neurological examination imaging methods (MRI and MR-spectroscopy) and electrophysiology (EMG, ENG, EEG, evoked potential tests) might be helpful in setting the diagnosis. Raised blood lactate level supports the diagnosis. Muscle biopsy demonstrates mitochondrial abnormalities in the majority of cases. The positivity of genetic tests is low, because the amount of mitochondrial DNA alterations is different in tissues. Therefore other tissue than blood (mainly muscle) is necessary for genetic tests. The other reason is that the respiratory chain is under double -mitochondrial and nuclear - genetic control, and testing the nuclear genes are available only in selected laboratories. The treatment is limited, mainly symptomatic.]

Clinical Neuroscience

[Congress calendar]

Clinical Neuroscience

[Editorial comment]

KLIVÉNYI Péter

Clinical Neuroscience

[Are oppressive dreams indicators in bereavement?]

PUREBL György, PILLING János, KONKOLY THEGE Barna, BÓDIZS Róbert, KOPP Mária

[Objectives - It is widely believed that oppressive dreams are frequent in bereavement - despite the lack of scientific investigations of the subject. The aims of our study were the analysis of dream quality as well as the correlates of oppressive dreams in bereavement. Method - Participants with (N=473) and without bereavement were compared upon the database of a national representative study (Hungarostudy Epidemiological Panel Survey 2006, N=4329). Dream contents were assessed with the Dream Quality Questionnaire (DQQ). Depressive symptoms (BDI-S) and the presence anxiety were also investigated. Results - Oppressive dreams occurred significantly higher frequency in the first year of bereavement (men: F=17.525, p<0.001, women: F=8.291, p=0.004). Oppressive dreams were significantly associated with anxiety (F=37.089, p<0.001) and with depressive symptoms (F=50.562, p<0.001). Discussion - Oppressive dreams are significantly more frequent in the first year of bereavement, and may act as indicators of bereavement-linked mental health consequences like depression and anxiety. These are often masked by the symptoms of grief and therefore remain untreated. Our preliminary results could be a starting point for the development of further research aiming to clarify the relationship amongst dream contents, anxiety, and depression in bereavement.]

Clinical Neuroscience

[Endoscopic, posterior transseptal pituitary surgery - Learning curve of the surgical technique and equipment in 61 operations]

BELLA Zsolt, FÜLÖP Béla, CSAJBÓK Éva, MAGONY Sándor, VALKUSZ Zsuzsa, HERCZEGH Szilvia, JÓRI József, BODOSI Mihály, CZIGNER Jenő, BARZÓ Pál

[Introduction - The removal of hypophyseal tumor by transsphenoidal pituitary surgery using microsurgical instruments was first performed over 100 years ago. Operating techniques for this surgery are constantly being renewed, first by using a microscope and later on with the use of an endoscop. The authors provide an overview of the minimal invasive posterior transseptal-transsphenoidal aproach with the combined utilization of classical techniques with the assistance of the endoscop. Method - Sixty-one patients (33 female, 28 male, 21-84 yrs) were treated for sellar region tumor resection using an endonasal transsphenoidal aproach with the help of an endoscop. Follow ups were performed within 2-21 months. Results - Total tumor resection was successful in 91.8%, and partial resection in 8.2% of the patients. The rate of complications using the endoscop method was not higher compared to that of the classical microscopic method. There was no major bleeding in any of the cases. Adverse events such as minor epistaxis occurred in 4.9%, transitional diabetes insipidus in 6.5%, inraoperative CSF leak in 16.67%, postoperative CSF leak in 11.5% and meningitis in 8.2% of the patients. After the operation the pathological hormonal production stoped in all patients except in two patients who were acromegalic. However their GH level normalized and they did not require further treatment, the IGF-1 still remained high. Conclusion - The success of the surgical treatment is based on both, the proficient pre- and postoperative endocrinological care, and the minimal invasive surgical technique. The endoscop was used partially or continuously during the operation for better visualization of the operation field in multiple angles (30°, 45°). It was useful in differentiating between normal and tumorous glandular tissue, and also offered an enhanced view of the intrasellar (via hydroscopy) and parasellar region. Moreover the endoscopic method is able to decrease the operating time, reduce blood loss. In different stages of the surgery, depending on the anatomical and pathological situation, switching back and forth from microscope to endoscop technique, gives us the benefit of a clearer view in each situation.]

All articles in the issue

Related contents

Hypertension and nephrology

[Genetics of isolated steroid-resistant nephrotic syndrome - results of the two decades around the turn of the millennium]

TORY Kálmán, KERTI Andrea, REUSZ György

[Childhood steroid-resistant nephrotic syndrome (SRNS) is a devastating clinical condition which progresses to end-stage renal disease in 30-40% of the cases after a follow up of 10 years. Based on its etiology, two forms can be distinguished, an immune and a genetic form. During the last two decades, mutations of ten genes - encoding mainly podocyte proteins - were identified in the latter group. As the treatment in the immune and genetic forms are different, and only the identification of the causative mutation can reliably distinguish them, it is important to be familiarized with the genotype-phenotype correlations. The aim of the present review is to summarize our current knowledge on the phenotypes linked to the identified genes.]

Clinical Neuroscience

[Genetic background of epilepsies]

KELEMEN Anna, SZŰCS Anna, RÁSONYI György, JANSZKY József, HOLLÓ András, HALÁSZ Péter

[In this article we review epilepsies with monogenic inheritance. Most of these diseases are caused by abnormal function of ligand- and voltage gated ion channels caused by a genetic defect, therefore belonging to the channelopathies. From the inherited epilepsies the genetics of the autosomal dominant partial epilepsies is clarified the best. Mutations of the nicotinic acetylcholine receptor subunits are found in familial nocturnal frontal lobe epilepsy, while defects in the voltage gated potassium channels (KCNQ2 and KCNQ3) have been identified in benign familial neonatal convulsions. Familial temporolateral epilepsy was associated with mutations of a tumor suppressor gene. From the generalized epilepsies, the syndrome of generalized epilepsy with febrile seizures plus (GEFS+) can be caused by mutations of the sodium channel subunits and of the GABAA receptor subunits. These important results would probably lead to new findings in the genetics of the more common forms of idiopathic generalized epilepsies, which have presumed polygenic origin. Although without definite conclusions, sodium channel and GABA receptor dysfunction is presumed. The accumulated knowledge about channelopathies enables insight to the cellular mechanism of epileptogenesis as well.]

Clinical Neuroscience

[NONSENSE MUTATION 193C>T OF NEUROFIBROMATOSIS TYPE 2 - A NEUROSURGICAL CHALLENGE]

BOBEST Mátyás, TÓTH Csaba, GYURCSÓ Mária, MOLNÁR Mária Judit, GARZULY Ferenc

[A 15 years old male was operated because of incidentally found intercostal schwannoma. Two years later severe cerebellar ataxy and left sided anacusis developed. MRI revealed bilateral vestibularis tumors and multiple cervical intradural extramedullar myelon compressing lesions. After partial resection of the huge left sided cerebello-pontin tumor, histologically schwannoma, and the exstirpation of the multiple cervical meningiomas the patient died three months later due to septic complications. The 24 years old mother had been operated on similar lesions 12 years earlier, after two weeks postoperative period she died. Her 14 years old twins are living, a boy also with bilateral acustic tumours and a girl who is intact. Genetic investigation revealed C>T nonsense mutation at position 193 in the exon 2 of the NF2 gene. This mutation cause premature truncation of the gene protein and is probably in connection with the clinically severe phenotype. Early diagnosis of this type of neurofibromatosis is mandatory concerning the therapy.]

Clinical Neuroscience

[Genetics and hemostasis in young stroke patients]

PONGRÁCZ Endre, TORDAI Attila, CSORNAI Márta, NAGY Zoltán

[Background and purpose - The classical risk factors did not explain all the possible ethiology of cerebral stroke. Genetic polymorphisms responsible for thrombophilia were implicated recently as risk factors of stroke. In this geneticoepidemiological study the author’s aim was to analyse the tendency of genetic polymorphisms to cluster in a cohort of young and elderly stroke patients and in healthy subjects in Hungary. Methods - 253 patients with stroke were compared with 173 healthy blood donors on the basis of genetic polymorphisms of platelet GP IIb/IIIa receptor (33 LeuPro), prothrombin gene G20210A, Factor V Leiden mutation, ACE I/D, methylenetetrahydrofolate reductase (MTHFR) and β fibrinogen gene G455A. These data were acquired using PCR. Questionnaires were used to investigate the family history and to determine the risk factor profile. The subtypes of stroke were analysed in a stroke cohort grouped according to different polymorphisms. Results - An increased frequency of GP IIIa heterozygousity was found as compared to a West-European stroke cohort (31% versus 19%). The prothrombin gene variant (2.9% European and 4.8% in Hungary) was also found to increase in frequency. In young stroke patients (age <50) compared with control subjects the odds ratios were higher: in prothrombin gene (OR: 4.9), in Leiden mutation (OR: 1.67), in fibrinogen gene (OR: 1.64) and in MTHFR(+/+) (OR: 1.58). Clustering of two polymorphisms could only be detected in young patients. These clustering polymorphisms were GP IIb/IIIa with prothrombin G20210A variant (OR: 6.74, 95% CI 1.1-18.2) and prothrombin gene variant with MTHFR (OR: 5.3, CI95 1.2-8.3). Conclusion - Selected and clustered genetic polymorphisms of haemostatic factors could be responsible for the high stroke morbidity in Central Europe. The presence and clustering tendency of these factors have been described in young stroke victims.]

Clinical Neuroscience

[Validation of the Hungarian Unified Dyskinesia Rating Scale]

HORVÁTH Krisztina, ASCHERMANN Zsuzsanna, ÁCS Péter, BOSNYÁK Edit, DELI Gabriella, PÁL Endre, KÉSMÁRKI Ildikó, HORVÁTH Réka, TAKÁCS Katalin, BALÁZS Éva, KOMOLY Sámuel, BOKOR Magdolna, RIGÓ Eszter, LAJTOS Júl

[Background - The Unified Dyskinesia Rating Scale (UDysRS) was published in 2008. It was designed to be simultaneous valid, reliable and sensitive to therapeutic changes. The Movement Disorder Society organizing team developed guidelines for the development of official non- English translations consisting of four steps: translation/back-translation, cognitive pretesting, large field testing, and clinimetric analysis. The aim of this paper was to introduce the new UDysRS and its validation process into Hungarian. Methods - After the translation of UDysRS into Hungarian and back-translated into English, it was reviewed by the UDysRS translation administration team. Subsequent cognitive pretesting was conducted with ten patients. For the large field testing phase, the Hungarian official working draft version of UDysRS was tested with 256 patients with Parkinson’s disease having dyskinesia. Confirmatory factor analyses (CFA) determined whether the factor structure for the valid Spanish UDysRS could be confirmed in data collected using the Hungarian Official Draft Version. To become an official translation, the Comparative Fit Index (CFI) had to be ≥0.90 compared to the Spanish-language version. Results - For the Hungarian UDysRS the CFI was 0.98. Conclusion - The overall factor structure of the Hungarian version was consistent with that of the Spanish version based on the high CFIs for the UDysRS in the CFA; therefore, this version was designated as the Official Hungarian Version Of The UDysRS.]