Value of systematic genetic screening of patients with amyotrophic lateral sclerosis.
Stephanie R ShepheardMatthew D ParkerJohnathan Cooper-KnockNick S VerberLee TuddenhamPaul HeathNick BeauchampElsie PlaceElizabeth S A SollarsMatthew C KiernanAndrea MalaspinaPietro FrattaChanna HewamaddumaThomas M JenkinsChristopher J McDermottDennis WangJanine KirbyDame Pamela J Shawnull nullnull nullPublished in: Journal of neurology, neurosurgery, and psychiatry (2021)
Routine screening for ALS-associated pathogenic mutations in a specialised ALS referral clinic will impact clinical care in 21% of cases. An additional 21% of patients have variants in the ALS gene panel currently of unconfirmed significance after removing non-specific or predicted benign variants. Overall, variants within known ALS-linked genes are of potential clinical importance in 42% of patients.
Keyphrases
- amyotrophic lateral sclerosis
- end stage renal disease
- copy number
- newly diagnosed
- ejection fraction
- genome wide
- chronic kidney disease
- primary care
- healthcare
- prognostic factors
- peritoneal dialysis
- palliative care
- patient reported outcomes
- quality improvement
- risk assessment
- gene expression
- clinical practice
- patient reported