Clinical Neuroscience

[Neurological complications of Fabry-disease]


JANUARY 30, 2011

Clinical Neuroscience - 2011;64(01-02)

[Background - Fabry-disease (FD) is a rare X-linked lysosomal storage disease. Deficiency of alpha-galactosidase A activity leads to the accumulation of neutral glycosphingolipids, primarily globotriaosylceramide (GL-3) in various tissues, particularly blood vessels, kidneys, myocardium and in ganglions of the peripheral and autonomic nervous system and causes diverse symptoms. The classical phenotype is seen in most males and rarely in females. In women, symptomes start later and the severity is milder. Both peripheral and central nervous system can be both affected. Objectives - Fabry-patiens and gene-carriers in the central region of Hungary are treated in the 2nd Pediatric Department, Semmelweis University. These patients are consulted by an interdisciplinary team. At present, four hemizygous male, four heterozygous female Fabry-patients and three asymptomatic heterozygous gene carriers are followed. Results - After reviewing the neurological complications of FD, we present clinical and neuroimaging data of our patients. Conclusion - We emphasize that neurologists should suspect the rare monogenic FD in the case of acroparaesthesia and heat-cold intolerance in childhood or adolescence; clinical signs of TIA/stroke or unexplained MRI alterations suggesting small vessel disease in young adults. Early diagnosis and introduction of enzyme replacement therapy (ERT) can halt or reverse progression.]



Further articles in this publication

Clinical Neuroscience

[Ulcerative carpal tunnel syndrome]


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Clinical Neuroscience

[Vascular compression syndromes of the cranial nerves]


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Clinical Neuroscience

[EEG investigations in cognitive impairments]


[The EEG is an indicator of all physiological and neuropsychological activity. The α rhythm was considered as a key phenomenon in research of human mentation from the discovery of EEG. Two methods are known for the estimation of cognitive deficit by the use of quantitative EEG (QEEG). The first is based on the hypothesis, that the mean values of the normal EEG from healthy volunters can be used as reference, and deviation from the normal values of EEG parameters may suggest disease. This kind of “neurometry” was elaborated by R. E. John. The second method asseses event related (ER) transients evoked by somatosensory and mental stimuli. Quantity and localization of signals may refer to the functional state of the cortex. These reactions depend strongly on the test-paradigms. Recognition of the attention-intention cycle disclosed the psysiological mechanism of ERD (event related desynchronisation) and ERS (event related synchronisation). In contrast with the classical “stimulus-reaction” model, both perception and voluntary movement are iniciated by the brain itself, and not by the environment. Human behavior and conscious actions depend on the intention. QEEG analysis proved that the attention and intention localize in segregate areas of the brain. Both “static” and “dinamic” neurometric methods are able to differenciate the EEG records of demented patients from healthy controls, furthermore some dementias from each other. We conclude that with the help of sofisticated methods of QEEG analysis minimal functional deficit of the electrogenesis can be recognized, which could be helpful in the differential diagnosis Notwithstanding the EEG can not explain the evolution neither the normal or the diseased mental processes. The only “instrument” which is able to approach the human mind is the human cogitation itself with the aids of appropriate tests. The QEEG can be conclusive in the analysis of particular processes of mental activity, such as timing, state of activation, hierarchical organisation of cortical territories and mechanism of electrogenesis.]

Clinical Neuroscience

[Tolosa-Hunt syndrome]


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Clinical Neuroscience

[Paroxysmal kinesigenic dyskinesia]


[Paroxysmal kinesigenic dyskinesia (PKD) is a rare neurological disease and the diagnosis is based on case history and clinical features. Despite of simply diagnostic criteria, the recognition of the disease is sometimes delayed. The involuntary movements in PKD lead to anxiety, social isolation, trauma and worsens the quality of life. To establish the diagnosis many other paroxysmal syndromes have to be excluded. The disease responds to antiepileptic therapy well. The genetic background of the familiar cases is not known. Here we present a 19 year-old patient with PKD and review the current literature. Our patient’s events were triggered by sudden movements and last several seconds. His physical and neurological examinations were normal and responded well to carbamazepine therapy.]

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Clinical Neuroscience

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Clinical Neuroscience

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Clinical Neuroscience

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