Clinical Neuroscience

[Progressive myoclonus epilepsy - A review and case histories]

JANSZKY József1, HALÁSZ Péter1, PERÉNYI József1, SISKA Éva1, RÁSONYI György1

MARCH 20, 1997

Clinical Neuroscience - 1997;50(03-04)

[Progressive myoclonus epilepsy (PME) syndrome is a heterogeneous entity underlain by rare genetic diseases. The most frequent origins of progressive myoclonus epilepsy are: Unverricht-Lundborg disease, Lafora's disease, ceroid lipofuscinosis, MERRF (myoclonus epilepsy with ragged red fibers) and sialidosis. Action myoclonic jerks, epileptic seizures, mental deterioration, neurological impairments are the four main symptoms of PME syndrome. Nowadays in more and more cases a causal diagnosis is possible in the PME syndrome. In this paper clinical data and findings of our 10 outpatients suffering from PME were analysed retrospectively. Electrophysiological, neuroimaging and histological examinations were performed. On the basis of the findings of the 10 patients 6 suffered from Unverricht-Lundborg disease, 1 from Lafora disease and 1 from MERRF In 2 patients we were not able to find specific diagnosis. Among our patients gypsy nationality occurs in a relatively large proportion and we know of more gypsy PME cases under care of other centres. It may raise the question whether Hungarian gypsies suffer from PME more frequently. This paper - to our knowledge – is the first study dealing with a group of PME cases in Hungary.]


  1. Országos Pszichiátriai és Neurológiai Intézet, Budapest



Further articles in this publication

Clinical Neuroscience

[Reoperation of recurrent supratentorial lobar gliomas (astrocytoma, glioblastoma)]

ÁFRA Dénes, SIPOS László

[Hundred-nine patients with recurrent supratentorial gliomas were reoperated during the last 15 years at the National Institute of Neurosurgery, Budapest. The patients were grouped according to the WHO classification based on the first histology. Fifty patients with low grade (A 2), 30 with anaplastic astrocytoma (A 3) and 29 with glioblastoma multiforme (GM) were reoperated on. Nine patients with low grade astrocytoma were irradiated following the first operation. They survived 5 to 14 months (median value 7 months). Those 22 patients who were irradiated after the reoperation survived longer despite the malignant tranformation of their tumour. The median survival time was 24 months. Twenty-four patients with anaplastic astrocytoma received radiotherapy after the first operation in a total dose from 50 to 60 Gy. Six patients did not give their consent. The median survival after the second operation was 5.5 months. Four patients also received chemotherapy and 1 of them is still alive 4 years after the reoperation. Out of the 29 patients operated on with glioblastoma 20 were irradiated. The median survival after the reoperation was 3 months, and only a few patients lived longer than 6 months. Chemotherapy itself did not influence the survival time significantly in either group. The survival time was influenced significantly by the first histology. Radiotherapy after the reoperation prolonged the survival time significantly, especially in the group of patients with primary low grade astrocytoma. Reoperation of patients with malignant astrocytoma who were irradiated immediately after the first operation extended the survival time slightly.]

Clinical Neuroscience

[Comparative human immunohistochemical investigations of peptidergic innervation of embryonal and adult cerebral blood vessels]

BÜKI András, DÓCZI Tamás, HORVÁTH Zoltán, FÜRTÖS András

[Peptidergic fibres innervating human embryonic and adult cerebral blood vessels were screened for calcitonine gene-related peptide, neuropeptide-Y and substance-P immunopositive fibres, the mediaadventitia border displayed a network-like fibre arrange ment. There was no significant difference either in the distribution of the individual peptidergic fibres or in the age-dependent appearance of peptidergic networks. On the basis of these results it seems to be unlikely that the different clinical course of juvenile and adult subarachnoid haemorrhages could be the result of an age specific difference of peptidergic fibre distribution influencing the neurogenic mecha nisms of cerebral autoregulation.]

Clinical Neuroscience

[Statistical evaluation and pathological significance of the incidence of corpus amylaceum]


[Objective: Semiquantitative evaluation of the corpus amylaceum (polyglucosan body) was carried out by a method reported before on a 1407 autopsy - partly biopsy - material. Design: The present report contains the data of the occurrence of corpus amylaceum in different disease groups demonstrated in tables expressed in numbers and percentage evaluated by homogenity examination. Setting: The manifold neuropathological examination enabled the reaching of some implications of clinical significance too. Material and method: The material involved a great number of cases not reported before. The cases were classified according to their ages and different diseases as well as a new grading system of quantitative evaluation of the frequency of corpus amylaceum in various localizations. Main outcome measures: The most important aspects were the examination of the predilection sites, the elucidation of the development of corpus amylaceum and occurrence in different conditions and diseases. Results: The method and examination permitted drawing conclusions as follows: 1. The chronic, recurring vascular-barriere disturbances appeared significant in the formation of corpus amylaceum. - 2. There was not an expressive difference between the ischemic and hemorrhagic vascular diseases considering the number of corpus amylaceum nor did more corpus amylaceum occur in Alzheimer's disease than in aged. - 3. Greater amount of corpus amylaceum may be found in some spinal cord lesions. – 4. The formation of corpus amylaceum was not observed in the regions of astrocytic gliosis (e.g. postraumatic) or in astrocytomas. This finding needs further study. - 5. The linear correlation between age and the increased quantity of corpus amylaceum may also be proved statistically. Conclusions: It deserves particular attention that more mechanisms may play a role in the formation of corpus amylaceum such as the insufficiency of astrocytes in the utilization of glucose which may be associated with accumulation of some carbohydrate polymers and glycogen. The increased volume of cerebrospinal fluid in the predilection sites is also an important factor. The spinal cord proved to be a prominent predilection site, where the great amount of corpus amylaceum occurred in some diseases which may be explained by the increased quantity of stress proteins. The final conclusion is that the corpus amylaceum has a pathog nostic significance, but it has a tendency for higher occurrence in some conditions.]

Clinical Neuroscience

[Moyamoya disease with partial epilepsy and cerebral infarct in early childhood]

NEMES András, LAZÁNYI Zoltán, NAGY István

[An 8-month-old infant with initial partial epileptic seizure is described in whose case moyamoya disease and a form of infarct were established. In connection with the case the possible reasons for the pathological picture, clinical characteristics and diagnosis are detailed. Attention is called to the fact that stroke can be considered as a possible etiological factor while clarifying the etiology of a partial epileptic seizure in infancy.]

Clinical Neuroscience

[Recent data for the pathobiochemistry of tension-type headache]

TAJTI János, SZOK Délia, VÉCSEI László

[The most prevalent of the independent headache disorders (30%) is tension-type headache (other types: migraine 4-10%, cluster 0.04-2.4%). These patients represent 50-90% of the patients in the "Headache Outpatient Clinics". This justifies a review of the latest biochemical data aimed at elucidating the pathomechanism of the disease. According to the criteria of the International Headache Society (IHS), two main forms of tension-type headache are distinguished. Tension-type episodic headache: fewer than 15 attacks per month, but at least 10 attacks lasting from 30 minutes to 7 days. Typically, they are pressing, tight, but not throbbing. Mild to moderate pain, bilateral, around the temples or forehead, pan-like, not increasing with normal physical activity, not accompanied by photophobia or phonophobia. Chronic tension-type headache: more than 15 attacks of headache per month, lasting all day and with features similar to the episodic form, for at least 6 months. In this summary, we first present the main experimental findings and then the conclusions that can be drawn from them. ]

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[The role of anaerobic bacteria in brain abscesses: a literature review]


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Clinical Neuroscience

[Epidemiology, cost and economic impact of cerebral palsy in Hungary]

FEJES Melinda, VARGA Beatrix, HOLLÓDY Katalin

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Clinical Neuroscience

[The Multiple Sclerosis Registry of Szeged]

BENCSIK Krisztina, SANDI Dániel, BIERNACKI Tamás, KINCSES Zsigmond Tamás, FÜVESI Judit, FRICSKA-NAGY Zsanett, VÉCSEI László

[Multiple sclerosis (MS) is a rare disease of the central nervous system considering the total population, the prevalence in Hungary is 83.9/100.000. The first MS registry was established in Denmark in the middle of the 1950’s. This was followed by the establishment of several national, then international databases with the number of enrolled patients in the hundred-thousands. At the beginning, the primary goal of the registries were the epidemiological surveys, focusing on the number of patients, the prevalence, the incidence, the mortality and the co-morbidity. As of today, however, with the rapid advancement and development of new disease modifying therapies (DMT) with different effectiveness and adverse reactions, the therapeutic use of the registries became even more essential: the modern, up-to-date, well established registries become integral part of the DMTs’ monitorization. The Multiple Sclerosis Registry of Szeged was first established as a “paper-based” database, then, in 2012, it was upgraded to an electronic, easily contactable and useable internet-based registry. As of today, it contains the socio-demographic and clinical data of more than 600 patients; we constantly add new patients as well as keep the registry up-to-date with the refreshment of old patients’ data. Aside from the “classical” clinical data, it can be used for the recording and assessment of the MRI scans and the data on psychopathological and quality of life assessments, which are becoming more and more important in everyday MS management. The establishment of the internet-based registry incredibly helped both the monitorization of the effectiveness of DMTs, and the success of the new epidemiological and psychopathological surveys. ]

Clinical Neuroscience

[Analysis of patients applying for emergency treatment with vertigo related symptoms]

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Clinical Neuroscience

[The significance of high-resolution ultrasonography in the diagnosis of peripheral nerve disorders]


[High resolution ultrasonography is an emerging technique for the investigation of peripheral nerves and is increasingly used worldwide in the diagnosis of peripheral nerve disorders, however, until now it is not widespread in Hungary. According to the literature this method is especially useful in entrapment neuropathies, traumatic peripheral nerve injuries, tumors of the peripheral nerves and sonographically guided interventions. Ultrasonography allows precise morphological analysis and quantitative measurements of the nerves providing useful complementary information to electrodiagnostic data. In entrapment neuropathies ultrasound shows nerve swelling mainly proximal to the sites of compression and a focal change of echotexture. On longitudinal scan, an abrupt caliber change and spindle-like swelling of the compressed nerve segment can be seen. Evaluation of the anatomical background and visualisation of the postoperative and posttraumatic changes provide useful information for planning of the therapy. Ultrasound may be of significant help in localizing the pathological nerve segment when it is at an electrophysiologically inaccessible site or when substantial secondary axonal loss precludes precise electrophysiological localization and it might even show pathological changes when nerve conduction studies are normal. Contrary to electrophysiological investigation ultrasonography might discover neurotmesis in the akute phase of traumatic nerve injuries indicating the necessity of surgical intervention. We provide a summary of the main indications and further application areas of this method.]