Zusammenfassung
Die autosomal-rezessiv vererbten Ataxien (ARCA) bilden eine Gruppe seltener neurologischer Erkrankungen mit Beteiligung des zentralen und des peripheren Nervensystems. In der Regel zeigen sich erste Symptome einer progredienten Ataxie vor dem 30. Lebensjahr. Im Verlauf wird eine fortschreitende Neurodegeneration im Zerebellum und Rückenmark sichtbar. Unter Kaukasiern zeigt die Friedreich-Ataxie die höchste Frequenz, gefolgt von Ataxien mit okulomotorischer Apraxie. Insgesamt ist jedoch jede Form sehr selten. Für einzelne Erkrankungen sind die betroffenen Gene bekannt und können auf Mutationen untersucht werden, während für weitere Entitäten bisher nur die chromosomale Lokalisation bestimmt werden konnte. Die klinisch gestellte Diagnose ist durch ergänzende laborchemische und elektrophysiologische Untersuchungen, bildgebende Verfahren und molekulargenetische Analysen abzusichern. Die korrekte Diagnose kann entscheidend für die Prognose, die genetische Beratung und die medikamentöse Behandlung der Patienten sein. Allerdings ist für die Mehrzahl der ARCA keine kausale Therapie verfügbar.
Summary
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.
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Zühlke, C., Kreuz, F. & Bürk, K. Klinik und Genetik der rezessiven Ataxien. Nervenarzt 82, 447–458 (2011). https://doi.org/10.1007/s00115-010-3079-4
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DOI: https://doi.org/10.1007/s00115-010-3079-4
Schlüsselwörter
- Friedreich-Ataxie
- Ataxie mit okulomotorischer Apraxie
- Ataxia teleangiectasia
- Genetik
- Rezessiver Erbgang
- Heterozygotie