Clinical Neuroscience

[Report about the activity of the senate]


NOVEMBER 30, 2009

Clinical Neuroscience - 2009;62(11-12)



Further articles in this publication

Clinical Neuroscience



Clinical Neuroscience

[New vistas and views in the concept of generalized epilepsies]


[The aim of this work is to show explicitly why the “idiopathic generalized epilepsy” concept becomes outfashioned and untenable. As the concept of “generalized epilepsies” is from long ago closely related to the thalamo-cortical system, we briefly summarize the functional anatomy, the double working mode of the thalamo-cortical system in different vigilance states and it’s role in development of the spike - wave pattern. The next part shows weaknesses of this concept from the EEG, seizure semiology, and neuroimaging point of view. Further experimental and clinical arguments are accumulated from the reflex epileptic features in IGE, indicating local/regional cortical hyperexcitability. A separate part is devoted to genetic aspects of the question. Lastly implications to epilepsy classification are shown and an outlook toward a unified epilepsy concept is provided. The epileptic disorder of the thalamo-cortical system is responsible for the development of “generalized", synchronous spike-wave paroxysms as the common neurophysiological background in “primary” - idiopathic and in “secondary” generalized epilepsies. This disorder is specifically related to the burstfiring working mode of the thalamo-cortical system during NREM sleep (is an epileptic exageration of it). The “generalized” epilepsy category should be abandoned, being misleading. Epilepsies are proposed to be classified according to their network properties and relations to different physiological systems of the brain. The different phenotypes, named earlier idiopathic (primary) generalized, or symptomatic (secondary) generalized (with encephalopathic features), should be delineated depending on the following factors: 1. speed and extent of syncronization within the thalamo-cortical system, 2. the way how the thalamo-cortical system is involved, 3. which kind of cortical triggers play role, 4. the degree and level of the disorder (restricted to the molecular level or extended to the level of structural alterations - in the cortex or more diffusely, 5. genetic targets and features.]

Clinical Neuroscience

[Role of zonisamid in treating epilepsy, Parkinson disorders and other neurological diseases]


[On the basis of six randomized controlled trials, zonisamide (ZNS) can be prescribed as add-on treatment in focal adulthood epilepsy in USA and Europe. In Japan, it can be prescribed as first-line monotherapy drug - independent of age. ZNS may also be effective in idiopathic generalized epilepsy and some difficult-to-treat epilepsies including West, Lennox-Gastaut, or Dravet syndromes. The most frequent side effects of ZNS are related to central nervous system occurring in 19%. Kidney stones and oligohidrosis are ZNS-specific side effects. Loss of appetite and weight are usually “beneficial” effects. ZNS is not recommended in pregnancy. ZNS can be taken once daily, which may be beneficial in non-compliance. The pathomechanism of ZNS is different from other antiepileptic drugs. ZNS has an effect on the voltage-gated Na+- and T-type Ca2+ channels as well as on the dopaminerg, glutamaterg, cholinerg, and GABAerg systems. The multiple way of action may be the reason why ZNS seems to be a broad-spectrum drug and beneficial in various neurological disorders. ZNS reduces production of free radicals according to in vitro and in vivo studies. Animal experiments suggest that ZNS may be a neuroprotective agent. Based on an adequate randomized controlled trial, ZNS is effective in adjuctive treatment of Parkinson disorder. A peculiar benefit of the ZNS is that parallel to its positive effect on motor impairment it also reduces severity of dyskinesias. ZNS may be effective in bipolar disorder, obesity, eating disorders, and migraine prophylaxis.]

Clinical Neuroscience

[Quantitative analysis of the genes determining spinal muscular atrophy]


[Spinal muscular atrophy (SMA) is one of the most common autosomal recessive diseases, affecting approximately one in 10.000 live births and with a carrier frequency of approximately one in 35. The disease is caused by a deficiency of the ubiquitous protein survival of motor neuron (SMN), which is encoded by the SMN1 and SMN2 genes. Due to a single nucleotide polymorphism in exon 7, SMN2 produces less full-length transcript than SMN1 and cannot prevent neuronal cell death at physiologic gene dosages. On the other hand, the copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype. SMN gene dosage analysis can determine the copy number of SMN1 to detect carriers and patients heterozygous for the absence of SMN1 exon 7. This study provides copy number estimation of SMN1 gene by real-time PCR technique in 56 SMA type I., II., III. patients, 159 parents and healthy relatives and in 152 undefined SMA patients. Among the family members, 91 carriers have been detected and in 56 patients homozygous deletion of SMN1 exon 7 has been confirmed. Moreover, in 12 patients compound heterozygosity of SMN1 exon 7 mutation has been detected, thus providing the possible diagnosis of SMA. In 94 patients, copy number of SMN2 has also been evaluated and a good correlation has been found with the phenotype of the disease. Due to the genetic complexity and the high carrier frequency, accurate risk assessment and genetic counselling are particularly important for the families. These new results provide improvement of the diagnostic service in SMA in Hungary with focus on proper genetic counselling and possible enrolment of the patients in future therapeutic interventions.]

Clinical Neuroscience

[Guillain–Barré syndrome in childhood]

KOLLÁR Katalin, LIPTAI Zoltán, ROSDY Beáta, MÓSER Judit

[Background - Guillain-Barré syndrome (GBS) is clinically well known since 1916. It can occur at any age. Its main characteristic is acute rapidly ascending flaccid paresis. It is a neuro-immunologic disorder with heterogeneous background. In Hungary we could not find reports about big paediatric population with GBS. Patient and method - We analysed retrospectively the data of 38 children diagnosed and treated with GBS at the Neurological Department of Paul Heim Children’s Hospital or at the Paediatric Department of St. László Hospital from January 2000 till April 2008. We analysed the clinical characteristics, seriousness of clinical signs, laboratory results, and electrophysiological features of them as well documented the preceding illness. We observed the effectiveness of our treatment; we measured the speed and time of the healing process and documented the residual clinical signs. Results - 35 children could be classified as having acute inflammatory demyelinating polyneuropathy (AIDP), 2 as having acute motor axonal neuropathy (AMAN) and 1 as Miller-Fisher syndrome. By those patients who at the very beginning did not show the characteristic clinical signs, electrophysiology helped in establishing the diagnosis. By one child spinal MRI with gadolinium supported our diagnosis. Those children, who lost their ambulation, got immunotherapy: intravenous immunoglobulin (IVIG) or plasmapheresis (PEX). Both method seemed to be effective. None of our patients died. All were cured. By five patients residual clinical symptoms could be found. Conclusion - The disease process, the relative incidence of each subtype of GBS is nearly similar to that in Western Europe and North America according to the literature. By the currently used immune therapy most of the pediatric patients recover fully within a short time.]

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Clinical Neuroscience

Late simultaneous carcinomatous meningitis, temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting with mono-symptomatic vertigo – a clinico-pathological case reporT

JARABIN András János, KLIVÉNYI Péter, TISZLAVICZ László, MOLNÁR Anna Fiona, GION Katalin, FÖLDESI Imre, KISS Geza Jozsef, ROVÓ László, BELLA Zsolt

Although vertigo is one of the most common complaints, intracranial malignant tumors rarely cause sudden asymmetry between the tone of the vestibular peripheries masquerading as a peripheral-like disorder. Here we report a case of simultaneous temporal bone infiltrating macro-metastasis and disseminated multi-organ micro-metastases presenting as acute unilateral vestibular syndrome, due to the reawakening of a primary gastric signet ring cell carcinoma. Purpose – Our objective was to identify those pathophysiological steps that may explain the complex process of tumor reawakening, dissemination. The possible causes of vestibular asymmetry were also traced. A 56-year-old male patient’s interdisciplinary medical data had been retrospectively analyzed. Original clinical and pathological results have been collected and thoroughly reevaluated, then new histological staining and immunohistochemistry methods have been added to the diagnostic pool. During the autopsy the cerebrum and cerebellum was edematous. The apex of the left petrous bone was infiltrated and destructed by a tumor mass of 2x2 cm in size. Histological reexamination of the original gastric resection specimen slides revealed focal submucosal tumorous infiltration with a vascular invasion. By immunohistochemistry mainly single infiltrating tumor cells were observed with Cytokeratin 7 and Vimentin positivity and partial loss of E-cadherin staining. The subsequent histological examination of necropsy tissue specimens confirmed the disseminated, multi-organ microscopic tumorous invasion. Discussion – It has been recently reported that the expression of Vimentin and the loss of E-cadherin is significantly associated with advanced stage, lymph node metastasis, vascular and neural invasion and undifferentiated type with p<0.05 significance. As our patient was middle aged and had no immune-deficiency, the promoting factor of the reawakening of the primary GC malignant disease after a 9-year-long period of dormancy remained undiscovered. The organ-specific tropism explained by the “seed and soil” theory was unexpected, due to rare occurrence of gastric cancer to metastasize in the meninges given that only a minority of these cells would be capable of crossing the blood brain barrier. Patients with past malignancies and new onset of neurological symptoms should alert the physician to central nervous system involvement, and the appropriate, targeted diagnostic and therapeutic work-up should be established immediately. Targeted staining with specific antibodies is recommended. Recent studies on cell lines indicate that metformin strongly inhibits epithelial-mesenchymal transition of gastric cancer cells. Therefore, further studies need to be performed on cases positive for epithelial-mesenchymal transition.

Clinical Neuroscience

Autonomic nervous system may be affected after carpal tunnel syndrome surgery: A possible mechanism for persistence of symptoms after surgery

ONDER Burcu, KELES Yavuz Betul

After carpal tunnel surgery, some patients report complaints such as edema, pain, and numbness. Purpose – The aim of this study was to evaluate autonomic nervous system function in patients with a history of carpal tunnel surgery using sympathetic skin response (SSR). Thirty three patients (55 ±10 years old) with a history of unilateral operation for carpal tunnel syndrome were included in the study. The SSR test was performed for both hands. Both upper extremities median and ulnar nerve conduction results were recorded. A reduced amplitude (p=0.006) and delayed latency (p<0.0001) were detected in the SSR test on the operated side compared to contralateral side. There was no correlation between SSR and carpal tunnel syndrome severity. Although complex regional pain syndrome does not develop in patients after carpal tunnel surgery, some of the complaints may be caused by effects on the autonomic nervous system.

Clinical Neuroscience

Extraskeletal, intradural, non-metastatic Ewing’s sarcoma. Case report


Intracranial localization of Ewing’s sarcoma is considerably very rare. Herein, we present clinical and neuroimaging findings regarding a 4-year-old boy with intracranial Ewing’s sarcoma. He was born prematurely, suffered intraventricular haemorrhage, posthaemorrhagic hydrocephalus developed, and a ventriculoperitoneal shunt was inserted in the newborn period. The patient endured re­gular follow ups, no signs of shunt malfunction nor increased intracranial pressure were observed. The last neuroima­ging examination was performed at 8 months of age. Upon reaching the age of 4 years, repeated vomiting and focal seizures began, and symptoms of increased intracranial pressure were detected. A brain MRI depicted a left frontoparietal space-occupying lesion infiltrating the superior sagittal sinus. The patient underwent a craniotomy resulting in the total excision of the tumour. The histological examination of the tissue revealed a small round blue cell tumour. The diagnosis was confirmed by the detection of EWSR1 gene translocation with FISH (fluorescent in situ hybridization). No additional metastases were detected during the staging examinations. The patient was treated in accordance to the EuroEwing 99 protocol. Today, ten years onward, the patient is tumour and seizure free and has a reasonably high quality of life.

Clinical Neuroscience

Valproic acid associated pleuropericardial effusion: case report

DEMIR Figen Ulku

Introduction - Valproic acid is an effective antiepileptic and mood stabilizer used in the treatment of many neurological and psychiatric disorders. Although there are frequently seen side effects, effusions between layers of pleural and pericardial membranes are rare to be seen. Case - Pleuropericardial effusion was detected in a 23 years old woman who was under valproic acid treatment because of epileptic seizure. After 1 year of valproic acid treatment, patient complained of dyspnea. As all the researches intended on etiology were usual, valproic acid has been thought to be responsible for the matter. Control examination after 1.5 months regarding the end of treatment revealed complete recovery of pleuropericardial effusion. Discussion - Pleural and pericardial effusions are rarely seen complications related to the use of valproic acid. It must also be kept in mind that valproic acid causes a potential for such side effects which can be blamed etiologically when the other possibilities for patients are excluded.

Clinical Neuroscience

To handle the HaNDL syndrome through a case: The syndrome of headache with neurologic deficits and cerebrospinal fluid lymphocytosis


The syndrome of headache with neurologic deficits and cerebrospinal fluid lymphocytosis (HaNDL) is a rare entity. This disease has been related to migrainous headaches. It is a benign, self-limited disorder, which is characterized by fluctuating neurological symptoms and cerebrospinal fluid lymphocytosis. We describe a case of a 47 years old man with acute onset of headache and aphasia. Cerebrospinal fluid analysis revealed a lymphocytic pleocytosis (25 cells/μl, 100% lymphocytes). Electroencephalogram showed moderate slow rhythm in the left hemisphere, with temporoparietal predominance, and without epileptiform activity. His blood tests as well as magnetic resonance imaging (MRI) results were normal. With the diagnosis of HaNDL syndrome the patient was accepted in the Department of Neurology and discharged with full recovery.