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název v anglickém jazyce není uveden
Ulmanová, Olga ; Růžička, Evžen (advisor) ; Bojar, Martin (referee) ; Stančák, Andrej (referee)
Essential tremor (ET) is probably the most common movement disorder with prevalence quoted as ranging in various populations from 0,41 to 3,92% (Louis et al 1998). Despite often given the prefix "benign", many patients are seriously physically, socially or psychologically handicapped. There are sporadic and familial forms with autosomal dominant inheritance with high penetrance. The percentage of patients with a positive family history ranges from 17 to 100%. Etiology and pathogenesis of ET are unknown. Electrophysiological studies have shown the central source of tremorogenic oscillation, the cerebellum and inferior olive are implicated by positron emission tomography studies. Autopsy studies reveal no gross or microscopic abnormalities (Deuschl and Elble 2000). Essential tremor had been for a long time one of the diseases that were not at a primary focus of neurological research (Deuschl and Koller 2000). Now, with the rapid progress of genetic research, the first genes related to ET have been identified (Gulcher et al 1997, Higgins et al 1997). ET is probably not a single disease; several genetic abnormalities appear to exist (Illarioshkin et al 2000, Abbruzzese et al 2001, Kovach et al 2001). High-quality epidemiological studies are needed for the search for genetic abnormalities (Elble 2000). The...
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