Table 3.
Response to bilateral GPi DBS in THAP1 dystonia
| Variant | Gender | Age of Onset |
Distribution | Age at Surgery |
Response to Surgery | Reference |
|---|---|---|---|---|---|---|
| N69del | M | 7 | G (neck, arms, legs, trunk). Pre-op BFMDRS: 24 |
9 | post-op BFMDRS: 18 (25% ↓) | Groen et al. [28] |
| N69del | M | 10 | G (tongue-jaw, neck, arms, legs, trunk). Pre-op BFMDRS: 40 |
39 | post-op BFMDRS: 18 (55% ↓) | Groen et al.[28] |
| N136K | F | 9 | G (upper face, tongue-jaw, larynx, neck, arms, legs, trunk). Pre-op BFMDRS: 79.5 |
48 | post-op BFMDRS: 50 (37% ↓) | Groen et al.[28] |
| T59I | M | 6 | G (upper face, tongue-jaw, larynx, neck, arms, legs, trunk). Pre-op BFMDRS: 31 |
23 | post-op BFMDRS: 26 (16% ↓) | Groen et al.[28] |
| L71L | M | 54 | Pre-op TWSTRS: 20 | 70 | post-op TWSTRS: 16 (20% ↓) | Groen et al.[28] |
| R13H | M | 6 | S (upper face, lower face, tongue-jaw, larynx, neck, arms, trunk). Pre-op BFMDRS: 37 |
28 | mild improvement in neck and arm dystonia; but no significant improvement in laryngeal, lower facial, or tongue-jaw dystonia |
Zittel et al. [38] |
| S130Sfs*4 | M | 9 | G (lower face, tongue-jaw, larynx, neck, arms, legs, trunk). Pre-op BFMDRS: 71 |
28 | moderate improvement in appendicular dystonia; but no significant improvement in cranial, laryngeal or neck dystonia |
Zittel et al. [38] |
| S6P | F | 13 | G (tongue-jaw, neck, larynx, arms, legs) |
NA | mild to markeda | Clot et al.[47] |
| A7Efs*23 | M | 9 | S (tongue-jaw, neck, larynx, arms) |
NA | mild to markeda | Clot et al.[47] |
| N69del | M | 11 | G (upper face, neck, arms, legs) |
NA | mild to markeda | Clot et al.[47] |
| P30R | M | 8 | G (larynx, tongue-jaw, neck, trunk, arms, legs). Pre-op BFMDS: 41 |
11 | marked improvement over 2 mo. Post-op BFMDS: 3 (93% ↓) |
Jech et al.[45] |
| F45Lfs*29 | M | 3 | G (larynx, neck, arm, leg). Pre- op BFMDRS: 40 |
15 | mild improvement. Post-op BFMDRS: 27 (33% ↓) | Panov et al.[44] |
| M1?(c.2delT) | F | 25 | G (arm, tongue-jaw, leg). Pre- op BFMDRS: 20.5 |
36 | mild improvement. Post-op BFMDRS: 16.5 (20% ↓) | Panov et al.[44] |
| C54Y | M | 6 | G (jaw, neck, arm, leg). Pre-op BFMDRS: 77.5 |
23 | moderate improvement Post-op BFMDRS: 21 (73% ↓) |
Panov et al.[44] |
| K16E | M | 6 | G (upper face, lower face, tongue-jaw, larynx, neck, arms, legs, trunk) |
43 | mild improvement in laryngeal and tongue- jaw dystonia; moderate improvement in facial, neck, arm, leg and trunk dystonia |
LeDoux et al. |
BFMDRS, Burke-Fahn-Marsden Dystonia Rating Scale - motor score. TWSTRS-M, Toronto Western Spasmodic Torticollis Rating Scale - motor score.
a
Clot et al.[47] summarized the results in their 3 patients as mild to marked.