Pathogenesis of spinocerebellar ataxias viewed from the RNA perspective

Gracjan Michlewski, Wlodzimierz J Krzyzosiak

Research output: Contribution to journalArticlepeer-review

Abstract

The underlying cause of a number of autosomal dominant spinocerebellar ataxias is the expansion of various types of simple sequence repeats located in diverse functional regions of different single genes. The genetic heterogeneity of these diseases which contrasts with the similarity of their pathology sites and clinical symptoms justifies the search for the shared mechanism of pathogenesis. In this article we discuss the arguments which are in favor of the RNA-mediated pathomechanism.

Original languageEnglish
Pages (from-to)19-24
Number of pages6
JournalCerebellum
Volume4
Issue number1
DOIs
Publication statusPublished - 2005

Keywords

  • Heterozygote
  • Humans
  • Models, Molecular
  • Models, Neurological
  • RNA
  • Spinocerebellar Ataxias
  • Trinucleotide Repeat Expansion

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