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Repeat Expansion Diseases

RED chromosome pictureNucleotide repeat expansions are linked to many rare neurodegenerative diseases but also more common diseases like frontotemporal dementia, amyotrophic lateral sclerosis, and Huntington’s disease. Tandem microsatellite repeats are common throughout the human genome but primarily affect the nervous system leading to a wide variety of clinical symptoms ranging from psychiatric problems, executive disorders and dementia. 

Nucleotide expansion diseases share common disease mechanisms related to toxic gain-of-function, protein loss-of-function, and toxic RNA mechanisms. An emerging disease mechanism is the repeat associated non-AUG (RAN) translation of repeat expansion leading to increased presence and accumulation of toxic protein aggregates.

This thematic series aims to provide a collection of Reviews and Primary Research Articles that will together present a valuable overview of neurological diseases associated with nucleotide repeat expansions, trying to answer how nucleotide repeat expansions result in neurodegeneration.

Topics to be covered include (but are not limited to):

  • Neuropathology and clinicopathological correlations of nucleotide repeat expansion diseases (C9orf72-mediated FTD/ALS, Huntington’s disease, FXTAS, spinocerebellar ataxia, neuronal intranuclear inclusion disease, etc.)
  • Genetic and epigenetic underpinnings of nucleotide repeat expansion diseases 
  • Modelling nucleotide repeat expansion diseases using stem cell models 
  • Proteomic and transcriptomic-based discovery of disease mechanisms associated with nucleotide repeat expansion diseases

We are no longer accepting new submissions to this series. All publications have been subject to the journal’s standard peer review process.


  1. Motor-, behavior- and/or cognition-related symptoms are key hallmarks in patients with amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) with TDP-43 pathology (FTLD-TDP), respect...

    Authors: Lieselot Dedeene, Evelien Van Schoor, Rik Vandenberghe, Philip Van Damme, Koen Poesen and Dietmar Rudolf Thal

    Citation: Acta Neuropathologica Communications 2019 7:189

    Content type: Research

    Published on:

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