Table 2.

Diagnostic yield in our cohort and other studies in patients with different neurological diseases.

Disease	Number of Patients Analyzed	Our Cohort % P/PP Variants	Other Reports % P/PP Variants
Movement disorders cohort
Ataxia	40	20% (8/40)	13–52% [12,13,14,15,16]
Spastic paraplegia	34	64.7% (22/34)	40% [15]
Dystonia	46	15.2% (7/46)	8–37% [13,15,17,18]
Parkinson	23	34.8% (8/23)	11–14% [15,19]
Total		31.5% (45/143)
Neurodevelopmental disorders cohort
ID	20	55% (11/20)	22–48% [11,13,18,20]
ASD	8	25% (2/8)	9–21% [12,13,16,18,21]
Epilepsy	23	21.7% (5/23)	15–40% [12,13,16,18,22]
Total		35.3% (18/51)
Other disorders
Other	15	20% (3/15)
ALL COHORTS	209	31.57% (66/209)

P: pathogenic; PP: probably pathogenic; ID: intellectual disability, ASD: autism spectrum disorder.