Clinical Neuroscience


BOBEST Mátyás1, TÓTH Csaba2, GYURCSÓ Mária3, MOLNÁR Mária Judit4, GARZULY Ferenc2

JANUARY 20, 2007

Clinical Neuroscience - 2007;60(01-02)

[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.]


  1. Vas Megye és Szombathely Megyei Jogú Város Markusovszky Kórháza, Idegsebészeti Osztály, Szombathely
  2. Vas Megye és Szombathely Megyei Jogú Város Markusovszky Kórháza, Patológiai Osztály, Szombathely
  3. Gyermek- és Ifjúsági Mentálhigiéniés Gondozó, Gyôr
  4. Országos Neurológiai és Pszichiátriai Intézet, Molekuláris Neurológia Osztály, Budapest



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Clinical Neuroscience


Clinical Neuroscience

[Some additional thoughts on sudden/unexpected death (SUDEP) in epilepsy]

RAJNA Péter, BARAN Brigitta, VERES Judit

Clinical Neuroscience



[Introduction - It is essential to identify the genetic factors of epilepsy in the every day clinical practice for several reasons. The proof of the genetically defined sub-clusters existing inside the epileptic disease group is significant in diagnoses and therapy. The risk of inheriting epilepsy could influence the patient’s family planning which has a great impact on their quality of life. The aim of the study - To analyse clinical data obtained from patients examined after their first provoked or unprovoked seizure and the observation of the recurrence of seizures. To compare the data obtained with the familial occurrence of epilepsy. Population and methods - Data was obtained from a questionnaire developed by the authors. The epileptic patients with positive familial data underwent to an analysis of their family tree. Results - Of 120 persons who were examined the prevalence of epilepsy in their family was 20.4%. This corresponds to the familial prevalence of generalised epilepsy according to the published clinical data. The recurrence of seizures was experienced by 32% of the patients with a family background affected by epilepsy. The risk of reoccurring seizures was the highest if the familial epilepsy manifested itself in the same generation (among brothers or sisters) and if we were able to register epileptiform activity on the interictal EEG. According to our clinical data the genetic set up can play a role also in the provoked first epileptic seizure. The incidence of familial epilepsy was found high (12.72%) in the presence of incidental epileptic seizures when the EEG was free of epileptiform alterations. Conclusion - 1. The genetic basis for the first epileptic seizure in the population of young adults approaches the data known in idiopathic generalised epilepsy irrespective of the fact whether it was related to the seizure provoking factors or not. 2. The risk of seizure reactivation was higher in non-provoked seizures then at the incidental epileptic symptoms. Seizure reactivation had to be taken into consideration when epileptiform patterns appeared on the patient's EEG and/or epileptic symptoms were experienced by the patient's brother or sister. The probability of reoccurring seizures was lower if the epileptic seizures manifested in parents or earlier generations.]

Clinical Neuroscience



[Aim of the study - Presentation of functional MRI performed at low magnetic field (1 Tesla) for planning microsurgical operation in a patient suffering from tumor close to an eloquent brain area. Methods - Microsurgical removal navigated by frameless stereotaxy of an intrinsic tumor located in eloquent area is indicated if speech function is not damaged, i.e. exact localisation and relationship of the tumor and speech area can be defined. Before operation an optimized EPI based 2D sequence was applied to yield functional MR images. At the planning of the operation the paradigm used for the localization of the sensory language cortex contained passive listening to a text. Control investigations were performed one month postoperatively. A specific psychological test, as an additional investigation to estimate the accurate level of the sensory language function, was also conducted. Results - Low resolution (matrix of 64×64) functional MR images visualized sensory speech center and auditory cortex satisfactorily. The scans showed clearly that the Wernicke's region was situated just above the tumor (WHO grade II glioma), and this finding increased the safety of intraoperative localization and reduced the risk of morbidity. Control examinations revealed minimal decrease in sensory language function, however, it was not noticeable for either the patient or her surroundings. Conclusion - Optimized functional MR imaging performed at low magnetic field can support planning of neurosurgical operations and reduce the morbidity of microsurgical interventions.]

Clinical Neuroscience

[31th Congress of the Hungarian Pediatric Neurological, Neurosurgical, Pediatric and Adolescent Psychiatric Society]

NAGY Andrea

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

BALICZA Péter, BEREZNAI Benjámin, TAKÁTS Annamária, KLIVÉNYI Péter, DIBÓ György, HIDASI Eszter, BALOGH István, MOLNÁR Mária Judit

[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.]


[The effects of thyroid hormones on bone]


[The effects of thyroid hormones on bone tissue are of fundamental importance.They are required for skeletal development and later for normal bone metabolism.Their action is dose-dependent and also depends on the degree of differentiation of the target tissue. In childhood, thyroid hypofunction manifests itself in growth retardation, whereas hyperfunction will accelerate bone maturation.The exact mechanism of action of thyroid hormones on bone in later years is poorly understood, and their clinical relevance on the risk of bone fracture, the most important complication, is also unclear. In adults with hypothyroidism, bone mineral density (BMD) remains unchanged or even becomes increased, but the risk of fractures is elevated. In hyperthyroidism the bone turnover is increased, which may lead to a decrease in BMD and a higher risk of fracture. However, the results are inconsistent for endogenous subclinical hyperthyroidism, where BMD may also decrease and fractures may occur more frequently.Treatment of hypothyroidism may temporarily result in increased fragility but this phenomenon seems to be only transient. During L-T4 replacement therapy the TSH level should be kept in the normal range, while with suppression, it should be set to the lower end of the normal range. During treatment of hyperthyroidism BMD temporarily increases and the risk of fractures decreases.The most effective way of preventing osteoporosis and bone fractures in all cases is the early recognition and treatment of thyroid diseases.The presence of other osteoporosis risk factors should always be considered. In some cases adjuvant therapy may be necessary to stop bone loss.]

Hypertension and nephrology

[Symptomes and genetics of nephronophthisis]

TORY Kálmán, VÁRKONYI Ildikó, BERNÁTH Mária, RÉMI Salomon, SOPHIE Saunier, MARIE-CLAIRE Gubler, CORINNE Antignac, TULASSAY Tivadar, REUSZ György

[Nephronophthisis is an autosomal recessive, chronic tubulointerstitial nephropathy, responsible for 6-10% of childhood chronic renal failure cases. Its first symptoms, polyuria-polydipsia, anaemia and failure to thrive precede the development of end-stage renal disease by years. Increased echogenicity with loss of corticomedullary differentiation are the key findings on ultrasound, the lack of cysts does not rule out the diagnosis. Histologically, it is characterized by interstitial fibrosis and irregularities of the tubular basal membrane. Genetically, it is highly heterogeneous. Ten nephronophthisis genes have already been identified in 60% of the patients. The encoded proteins - similarly to other proteins mutated in cystic kidney diseases - are localized to primary cilium-basal body-centrosomal complex.]

Lege Artis Medicinae


FÜST György

[Authors discuss data published in the last 2-3 years indicating that besides the characteristics of the virus itself, the natural course of HIV disease is also regulated by genetic factors from the very onset till the end. Susceptibility for HIV infection of the carriers of a non-expressing mutant allele (CCR5Δ32) of one of the main coreceptors of HIV is markedly lower than that of the non-carriers. HLA-concordancy, that is few differences in the HLA alleles between the infected and noninfected partners, increases the chance of the HIVtransmittal. On the other hand, carriage of some HLA genotype e.g. that of the HLA A2/6802 supertype may significantly decrease the risk of the sexually transmitted HIV infection or that of the HIV infection from the mother to child. The rate of progression of the HIV disease which may vary in broad range from the median value of 10 years is also dependent on genetic factors. Progression is lower than the average in the carriers of the CCR5Δ32, HLA-B*27 and HLAB* 57 alleles while it is significantly more rapid in carriers of the HLA-B*35.1 allele. Recent data on the regulation by genetic factors of some sideeffects and the efficacy of combined antiretroviral treatment indicate that in the near future individual treatment may be used on the basis of the genetic background of the patients.]

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