Clinical Neuroscience

[Kennedy’s syndrome - bulbo-spinal muscular atrophy]

SZABÓ Antal, MECHLER Ferenc

OCTOBER 20, 2002

Clinical Neuroscience - 2002;55(09-10)

[Kennedy syndrome is a late-onset, bulbar-spinal type of muscular atrophy, with X-linked recessive inheritance. The characteristic features of the disease become prominent in the 4-5th decades: proximal muscle wasting and weakness, bulbar signs, fasciculations in skeletal muscles, subtle signs of endocrine dysfunction, such as gynaecomastia or testicular atrophy. The electrophysiological examinations are the keypoint to the diagnosis. Electroneurography shows normal conduction velocity in peripheral nerves, but the sensory nerves usually show axonal degeneration, which causes only very mild or subclinical neurological deficits. Electromyography shows chronic anterior horn cell degeneration in skeletal muscles. Molecular genetic diagnosis was introduced in 1991, when an abnormal expansion of CAG repeat was found in the first exon of the androgen receptor gene on chromosome X with a frequency of 100% in the affected population. Since the progression is very slow and these patients can expect a normal life span, it is essential to distinguish this syndrome from other, often more severe diseases, such as ALS. There is no proven therapy for Kennedy's disease yet. This is the first case of Kennedy's disease published in Hungary.]

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[Anxiety in epilepsy - based on two case reports]

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[There are a great number of psychopathological symptoms which manifest themselves in 70-75% of epileptic patients but most of them remain unrecognised and untreated. These symptoms may affect the patients’ quality of life more negatively than the epileptic seizures themselves. Anxiety is one of the most frequently occurring interictal psychopathological symptom. A number of specialists agree that chronic epilepsy causes the amplification of endogenic seizure suppressing mechanisms which hinder the epileptic seizures and are responsible for the development of interictal psychopathological symptoms. However the physiological effects of the interictal psychopathological conditions (e.g. anxiety) have epileptogenic effect as well. There is a high chance that the conditions of epilepsy and anxiety will mutually create a destructive vicious circle and it will be illustrated by our two case reports. In our experience, before modifying the pharmacotherapy of a patient suffering from chronic epilepsy with increased frequency of seizures, the anxiety level should be defined; and if it is high it should be treated first. From our perspective, the so-called ”rational bitherapy” is very effective when a high potential antiepileptic drug is combined with an anxiety reducing method. The latter can be drug related or consists only of psychotherapy. We need more controlled clinical research to prove that inside epilepsy there are risk groups as well as conditions of high risk when the connection between anxiety and epilepsy is more than evident. The described cases seem to indicate that the existence of periictal anxiety can be a risk factor in developing later interictal anxiety.]

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ARÁNYI Zsuzsanna, SIMÓ Magdolna

[Transcranial magnetic stimulation allows painless, non-invasive stimulation, neurophysiological evaluation of nervous structure covered by bone or difficult to access for other reasons. In the clinical setting the technique is mainly used for the investigation of the corticospinal tract (motor evoked potential: MEP). Based upon our experience with patients examined over the course of four years, we have attempted to highlight the clinical situations, where diagnostic help is provided by this technique. MEP in general has proved to be a sensitive and reliable examination. Its significance is apparent mainly in situations where clinical signs of corticospinal tract dysfunction are not evident, or they are masked by lower motoneurone involvement, and where neuroimaging techniques are not informative. The demonstration of subclinical corticospinal lesion is often essential to establish the diagnosis in multiple sclerosis and amyotrophic lateral sclerosis. The technique however received little attention so far with respect to its role in the diagnosis of various spinal cord disorders, and in the demonstration of intact corticospinal function in case of weakness, psychogenic in origin. We have endeavoured to provide further evidence in support of this, and thereby advocating a wider clinical application of the technique.]

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