Incidence of amyotrophic lateral sclerosis-associated genetic variants: a clinic-based study.
Nan HuLei ZhangDongchao ShenXunzhe YangMingsheng LiuLiying CuiPublished in: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology (2023)
Over half of our ALS patients carried variants of ALS-related genes, most of which were variants of uncertain significance (VUS). Family history of ALS could work as strong evidence for carrying P/LP variants regarding ALS. There was no additionally suggestive effect of indicators including early onset, progression rate, cognitive decline, or cerebellar ataxia on the recommendation of genetic testing in clinical practice.
Keyphrases
- amyotrophic lateral sclerosis
- early onset
- cognitive decline
- copy number
- end stage renal disease
- late onset
- clinical practice
- mild cognitive impairment
- ejection fraction
- chronic kidney disease
- newly diagnosed
- peritoneal dialysis
- prognostic factors
- risk factors
- gene expression
- patient reported outcomes
- patient reported