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Story perspectives

New Insights on GGC Repeat Expansions and Associated Disorders

2/19/2026

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Story summary
  • GGC repeat expansions produce toxic polyglycine proteins that contribute to fragile X tremor ataxia syndrome (FXTAS) and spinocerebellar ataxia type 4 (SCA4).
  • Todd et al. and Sellier et al. demonstrate that these GGC repeats have a pathogenic role in FXTAS.
  • Boivin et al. identify a novel class of disorders linked to GGC repeats, expanding the genetic relevance.
  • Depienne and Mandel review challenges in understanding repeat expansion disorders.