Beyond the CAG triplet number: exploring potential predictors of delayed age of onset in Huntington's disease.
Sonia Di TellaMaria Rita Lo MonacoMartina PetraccaPaola ZinziMarcella SolitoCarla PianoPaolo CalabresiMaria Caterina SilveriAnna Rita BentivoglioPublished in: Journal of neurology (2022)
In the past, the HD gene was considered the epitome of genetic determinism. Our results are consistent with recent evidence that other factors might modulate its impact. These findings allow characterizing the determinants of AOO beyond the CAG expansions and provide valuable information for stratifying patients for future clinical trial designs.
Keyphrases
- clinical trial
- end stage renal disease
- genome wide
- ejection fraction
- newly diagnosed
- chronic kidney disease
- copy number
- peritoneal dialysis
- prognostic factors
- healthcare
- gene expression
- social media
- risk assessment
- climate change
- phase iii
- transcription factor
- genome wide identification
- patient reported
- genome wide analysis