Blepharospasm with Anterocollis: A Distinctive Subphenotype of Segmental Craniocervical Dystonia

Clinical implications of genetic polymorphisms in blepharospasm

“…The aforementioned findings suggest that the effect of BoNT will likely differ among the genetic variants associated with BSP, such as those in TOR1A and DRD5. Several studies have explored the effects of BoNT-A on gene expression ( 52 , 53 ). Their results indicated that BoNT-A may affect the expression of genes in other sensorimotor pathways, suggesting that the treatment itself may influence the clinical outcomes among patients with BSP.…”

Clinical implications of genetic polymorphisms in blepharospasm

“…The aforementioned findings suggest that the effect of BoNT will likely differ among the genetic variants associated with BSP, such as those in TOR1A and DRD5. Several studies have explored the effects of BoNT-A on gene expression ( 52 , 53 ). Their results indicated that BoNT-A may affect the expression of genes in other sensorimotor pathways, suggesting that the treatment itself may influence the clinical outcomes among patients with BSP.…”

Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia

“…For instance, in Meige syndrome, some BSP patients may progressively develop oromandibular involvement and further extend to the neck, manifesting as CCD. 2 , 3 However, the shared and distinct underlying aetiology and pathophysiology of BSP, BOM and CD are not fully understood.…”

Clinical implications of genetic polymorphisms in blepharospasm

“…The aforementioned findings suggest that the effect of BoNT will likely differ among the genetic variants associated with BSP, such as those in TOR1A and DRD5. Several studies have explored the effects of BoNT-A on gene expression ( 52 , 53 ). Their results indicated that BoNT-A may affect the expression of genes in other sensorimotor pathways, suggesting that the treatment itself may influence the clinical outcomes among patients with BSP.…”

Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia

“…For instance, in Meige syndrome, some BSP patients may progressively develop oromandibular involvement and further extend to the neck, manifesting as CCD. 2 , 3 However, the shared and distinct underlying aetiology and pathophysiology of BSP, BOM and CD are not fully understood.…”

Clinical implications of genetic polymorphisms in blepharospasm

“…The aforementioned findings suggest that the effect of BoNT will likely differ among the genetic variants associated with BSP, such as those in TOR1A and DRD5. Several studies have explored the effects of BoNT-A on gene expression ( 52 , 53 ). Their results indicated that BoNT-A may affect the expression of genes in other sensorimotor pathways, suggesting that the treatment itself may influence the clinical outcomes among patients with BSP.…”

Shared and distinct dynamic brain activity and functional connectivity variability in patients with isolated craniocervical dystonia

“…For instance, in Meige syndrome, some BSP patients may progressively develop oromandibular involvement and further extend to the neck, manifesting as CCD. 2 , 3 However, the shared and distinct underlying aetiology and pathophysiology of BSP, BOM and CD are not fully understood.…”