Mechanistic and Therapeutic Insights into Ataxic Disorders with Pentanucleotide Expansions

Nan Zhang, Tetsuo Ashizawa

Research output: Contribution to journalReview articlepeer-review

4 Scopus citations


Pentanucleotide expansion diseases constitute a special class of neurodegeneration. The repeat expansions occur in non-coding regions, have likely arisen from Alu elements, and often re-sult in autosomal dominant or recessive phenotypes with underlying cerebellar neuropathology. When transcribed (potentially bidirectionally), the expanded RNA forms complex secondary and tertiary structures that can give rise to RNA-mediated toxicity, including protein sequestration, pen-tapeptide synthesis, and mRNA dysregulation. Since several of these diseases have recently been discovered, our understanding of their pathological mechanisms is limited, and their therapeutic interventions underexplored. This review aims to highlight new in vitro and in vivo insights into these incurable diseases.

Original languageEnglish (US)
Article number1567
Issue number9
StatePublished - May 6 2022


  • RNA foci
  • SCA10
  • SCA31
  • SCA37
  • TDP-43
  • microsatellite expansion diseases
  • neurodegeneration
  • pentanucleotide repeats
  • spinocerebellar ataxia
  • Cerebellum
  • Humans
  • RNA/genetics
  • Spinocerebellar Ataxias/genetics
  • Ataxia/genetics
  • Microsatellite Repeats

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)


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