Clinical Neuroscience



NOVEMBER 30, 2009

Clinical Neuroscience - 2009;62(11-12)



Further articles in this publication

Clinical Neuroscience

[Application of robots at patients with paresis of the upper limb as a consequence of central motor neuron lesion for supporting physiotherapy during rehabilitation]


Clinical Neuroscience

[Report about the activity of the senate]


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

[Endoscopic Surgery of the Paranasal Sinuses and Anterior Skull Base]


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.]

All articles in the issue

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Journal of Nursing Theory and Practice

[From an abstracting periodical to a scientific journal: Adolescence and coming of age of NŐVÉR (1993-2004) ]


[In her contribution to mark the 25th volume of the journal NŐVÉR, the author looks back to a decade in the life of the journal when in her capacity as editor-in-chief, she was involved in shaping Hungary’s only nursing science journal. She takes stock, in chronological order, of the steps that resulted in turning an abstracting periodical into a scientific journal publishing peer-reviewed contributions with English abstracts and indexed in the international nursing science database. ]

Clinical Neuroscience

[Editorial message]

KINCSES Zsigmond Tamás

Lege Artis Medicinae

[Meditation of the guest editor-in-chief]


Lege Artis Medicinae

[The Message of the Invisible Exhibition]

NAGY Zsuzsa

Clinical Neuroscience

[Editorial message]

TAJTI János, RAJNA Péter