Table 3 Previous studies investigating underlying genetic causes in patient cohorts with movement disorders
From: Exome sequencing in paediatric patients with movement disorders
| Â | Neveling et al. [13] | Van Egmond et al. [14] | Reale et al. [17] | Montaut et al. [16] | Cordeiro et al. [19] | Graziola et al. [15] | The present study |
|---|---|---|---|---|---|---|---|
Country of patient recruitment | The Netherlands | The Netherlands | Italy | France, Luxembourg and Algeria | Canada | Italy | Hong Kong SAR, China |
No. of patients with MDs | 50 | 61 (all with dystonia) | 221 | 378 | 51 | 148 | 31 |
Onset age | Adult and paediatric | Adult and paediatric | Adult and paediatric | Adult and paediatric | Paediatric | Paediatric | Paediatric |
No. of young-onset MDs | Not specified | 44 | Not specified | Not specified | 51 | 148 | 31 |
Sequencing methods | Whole exome sequencing and target data analysis | Next generation sequencing and gene panel analysis | Targeted next generation sequencing | Targeted next generation sequencing | Targeted direct, targeted next generation or whole exome sequencing | Targeted next generation sequencing | Whole exome sequencing with both targeted and exome wide analysis. One variant was identified by Sanger sequencing |
No. of genes in panel | 151 | 94 | 65 | 127 | – | 102 | – |
Diagnostic yield | 20% (10/50) | 14.8% (9/61) | 11.31% (25/221) | 22% (83/378) | 51% (26/51) | 28% (42/148) | 32% (10/31) |
Treatment implications | – | – | – | – | 38% of patients with a genetic diagnosis | – | 80% of patients with genetic diagnosis |