[Clinical details and genetics of recessive ataxias].
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological diseases affecting both the central and the peripheral nervous systems. They are characterized by autosomal recessive inheritance, progressive ataxia and degeneration of the cerebellum and spinal cord. Onset is generally before the third decade of life. The most frequent of these rare disorders in the Caucasian population is Friedreich's ataxia followed by ataxias with oculomotor apraxia. ARCAs are caused by mutations at specific loci but not every affected gene is known to date. Clinical diagnosis can be confirmed by ancillary tests (biochemical, neuroimaging and electrophysiological investigations) and mutation analyses if the causative gene has been identified. Correct clinical and genetic diagnosis is necessary for prognosis, genetic counseling and pharmacological treatment. For the majority of ARCAs a curative treatment is not available.
Zühlke
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Institut für Humangenetik, Universität zu Lübeck, Ratzeburger Allee 160, 23538, Lübeck. Christine.Zuehlke@uk-sh.de
Kreuz
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Bürk
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D002524:Cerebellar Ataxia / Q000175:diagnosis* / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans