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Repeat Expansion Diseases

RED chromosome pictureThe Editors of Acta Neuropathologica Communications, Jeroen Hoozemans and Jason T. Huse, invite the submission of articles to a thematic series on Repeat Expansion Diseases.

Nucleotide 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

Articles must be submitted through Editorial Manager by 31st December 2019. All manuscripts received will be subject to the journal’s standard peer review process.


There are currently no articles in this collection.