Figure 1
Patient selection. Flow diagram illustrating inclusion and exclusion criteria for cohort selection.
Table 1
Patient characteristics.
| PATIENT | GENDER | AGE AT DYSTONIA ONSET (YEARS) | DYSTONIA PHENOTYPE | GENETIC TESTING | AGE AT TIME OF SURGERY (YEARS) | MEDICATIONS (AT TIME OF SURGERY) | SURGERY TO FOLLOW-UP (MONTHS) |
|---|---|---|---|---|---|---|---|
| 1 | M | 6 | Generalized | TOR1A, GAG946 del | 11 | Artane 2 mg TID | 11.5 |
| 2 | F | 6 | Generalized | TOR1A, GAG946 del | 10 | Baclofen 15 mg TID Trihexyphenidyl 30 mg TID Levodopa 300 mg/day | 28.2 |
| 3 | M | 9 | Generalized | TOR1A, c.907_909delGAG | 41 | Diazepam 10 mg TID | 6.6 |
| 4 | M | 11 | Generalized | THAP1, c.256A>G | 33 | Clonazepam 0.5 mg weekly | 10.6 |
| 5 | F | 41 | Generalized | Not available | 48 | Botulinum injections Clonazepam 1 mg nightly Cyclobenzaprine 10 mg TID | 21.4 |
| 6 | M | 53 | Segmental | Not available | 58 | Botulinum injections Lorazepam 2 mg QID | 8.0 |
| 7 | F | 39 | Generalized | Not available | 59 | Botulinum injections Trihexyphenidyl 2 mg TID Primidone 100 mg nightly | 9.2 |
| 8 | M | 5 | Hemidystonia | Negative DYT1 GAG946 del | 18 | None | 19.9 |
| 9 | M | 53 | Segmental | Not available | 57 | Botulinum injections Trihexyphenidyl 2 mg TID | 14.0 |
| 10 | M | 31 | Segmental | Not available | 65 | None | 7.6 |
| 11 | M | 43 | Hemidystonia | Negative Dystonia Panel | 61 | Baclofen 20 mg TID | 12.3 |
| 12 | F | 55 | Generalized | Not available | 66 | Flexeril 10 mg TID Propranolol 40 mg BID | 12.9 |
| 13 | F | 33 | Generalized | Not available | 59 | Botulinum injections Propranolol 40 mg/day Baclofen 40 mg BID Primidone 50 mg BID Clonazepam 1 mg nightly | 12.7 |
| 14 | F | 58 | Segmental | Not available | 64 | Botulinum injections Clonazepam 1 mg TID Trihexyphenidyl 2 mg TID | 30.0 |
| 15 | F | 46 | Segmental | Not available | 66 | Botulinum injections Trihexyphenidyl 2 mg TID Clonazepam 1 mg TID | 5.8 |
| 16 | M | 20 | Segmental | Not available | 47 | Botulinum injections Clonazepam 1 mg BID | 16.0 |
| 17 | F | 70 | Segmental | Not available | 72 | Diazepam 5 mg PRN Clonazepam 1 mg nightly Cyclobenzaprine 10 mg PRN | 16.0 |
| 18 | M | 35 | Segmental | Not available | 37 | Botulinum injections | 13.6 |
| 19 | F | 56 | Segmental | Not available | 59 | Trihexyphenidyl 1 mg TID Baclofen 10 mg TID | 14.9 |
| 20 | F | 25 | Focal | Not available | 57 | None | 16.6 |
Table 2
Patient-level DBS characteristics and stimulation settings. Lead coordinates describe the bottom contact unless otherwise indicated. Stimulation settings are at the time of the patient’s video used for post-DBS scoring.
| PATIENT | MANUFACTURER | TARGET LATERALITY | DIRECTIONAL LEADS | LEFT LEAD COORDINATES (X, Y, Z) | RIGHT LEAD COORDINATES (X, Y, Z) | LEFT STIMULATION SETTINGS | RIGHT STIMULATION SETTINGS |
|---|---|---|---|---|---|---|---|
| 1 | Boston Scientific | Bilateral | Yes | –17.39, 1.75, –4.82 | 20.59, 2.27, –4.32 | C+ 3–(30%) 4–(70%) 3.5 mA, 90 µs, 130 Hz | 13+ 11–(50%) 12–(50%) 1.5 mA, 90 µs, 130 Hz |
| 2 | Medtronic | Bilateral | No | –20.90, –0.80, –6.70 | 21.5, –0.8, –4 | 0+ 2–, 3.5 V, 60 µs, 80 Hz 1200 Ω, 3.0 mA | C+ 10–, 4.5 V, 60 µs, 80 Hz 930 Ω, 4.1 mA |
| 3 | Boston Scientific | Bilateral | Yes | –19.85, 5.64, –2.17 | 21.89, 4.92, –4.09 | C+ 1–, 4.7 mA, 60 µs, 130 Hz | C+ 2– 4.7 mA, 60 µs, 130 Hz |
| 4 | Medtronic | Bilateral | No | –20.43, 1.43, –3.48 | 23.77, 2.46, –5.02 | C+ 2–, 2 V, 120 µs, 130 Hz 994 Ω, 2.0 mA | 8+ 10–, 2.6 V, 150 µs, 130 Hz 1793 Ω, 1.4 mA |
| 5 | Medtronic | Bilateral | No | –19.85, 2.13, –3.84 | 21.47, –0.06, –4.08 | C+ 1– 2–, 3.6 V, 90 µs, 130 Hz 814 Ω, 4.4 mA | 0+ 3+ 1–, 4.6 V, 90 µs, 150 Hz 776 Ω, 5.9 mA |
| 6 | Medtronic | Bilateral | No | –23.71, 0.53, –3.69 | 22.80, 2.28, –2.53 | C+ 1–, 3.5 V, 120 µs, 135 Hz 1121 Ω, 3.3 mA | C+ 9–, 3.5 V, 120 µs, 135 Hz 981 Ω, 3.8 mA |
| 7 | Medtronic | Bilateral | No | –20.00, –0.10, –2.80 | 19.40, –0.80, –2.20 | C+ 2–, 3.6 V, 60 µs, 140 Hz 1173 Ω, 3.1 mA | 11+ 9– 10–, 3.4 V, 90 µs,140 Hz 1739 Ω, 2.0 mA |
| 8 | Medtronic | Left | No | Lead 1: –20.14, –0.45, –0.34 Lead 2: –20.61, 1.30, –2.22 | N/A | Lead 1: C+ 9–, 2.7 V, 90 µs, 90 Hz 1164 Ω, 2.3 mA Lead 2: 8+ 11+ 9–, 3.4 V, 90 µs, 90 Hz 1133 Ω, 3.0 mA | N/A |
| 9 | Medtronic | Bilateral | No | –22.33, 1.28, –3.37 | 23.35, 0.47, –3.13 | C+ 1–, 5.6 V, 60 µs, 70 Hz 1121 Ω, 5.1 mA | C+ 2–, 4.8 V, 90 µs, 125 Hz 1505 Ω, 3.4 mA |
| 10 | Boston Scientific | Bilateral | Yes | –22.77, 3.78, –1.98 | 23.35, 4.75, –1.95 | C+ 2–(50%) 3(50%) 4.6 mA, 70 µs, 130 Hz | C+ 9–, 4.5 mA, 100 µs, 130 Hz |
| 11 | Medtronic | Left | No | –22.8, 1.1, –3.6 | N/A | 1+ 3– 2–, 4 V, 90 µs, 160 Hz | N/A |
| 12 | Medtronic | Bilateral | No | –19.30, 0.00, –1.70 | 19.90, 0.10, –2.40 | 1+ 2–, 4.4 V, 120 µs, 90 Hz 1385 Ω, 3.3 mA | C+ 1–, 2.8 V, 120 µs, 90 Hz 1111 Ω, 2.6 mA |
| 13 | Boston Scientific | Bilateral | Yes | –19.98, 1.47, –3.76 | 20.84, 2.30, –1.89 | 1+ 2–(65%) 3–(35%) 4.9 mA, 100 µs, 174 Hz | C+ 11–, 3.6 mA, 60 µs, 130 Hz |
| 14 | Medtronic | Bilateral | No | –20.74, –0.39, –5.04 | 22.06, 0.42, 0.25 | C+ 1– 2–, 2.54 V, 90 µs, 130 Hz 1105 Ω, 2.6 mA | 0+ 1–, 3 V, 90 µs, 130 Hz 1227 Ω, 2.1 mA |
| 15 | Medtronic | Bilateral | No | –20.54, –0.08, –0.74 | 20.50, –1.35, –3.22 | C+ 2–, 3.5 V, 90 µs, 80 Hz 1217 Ω, 2.9 mA | C+ 1–, 3.8 V, 60 µs, 80 Hz 1517 Ω, 2.6 mA |
| 16 | Medtronic | Bilateral | No | –20.80, –0.40, –4.50 | 20.60, 0.20, –3.40 | 1+ 2–, 3.5 V, 90 µs, 70 Hz | 3+ 2–, 3.9 V, 90 µs, 90 Hz |
| 17 | Medtronic | Bilateral | No | –20.00, –1.00, –2.00 | 21.00, –0.50, –2.50 | 0+ 1–, 4.2 V, 90 µs, 135 Hz 1026 Ω, 4.0 mA | 3+ 1–, 3.9 V, 90 µs, 135 Hz 2063 Ω, 1.9 mA |
| 18 | Medtronic | Bilateral | No | –20.95, 1.24, –2.67 | 20.41, 2.45, –5.80 | C+ 2–, 3.3 V, 60 µs, 130 Hz 1486 Ω, 2.3 mA | C+ 10–, 3.5 V, 60 µs, 130 Hz 1199 Ω, 2.9 mA |
| 19 | Medtronic | Bilateral | No | –18.20, 3.87, –0.78* | 19.47, 2.40, 0.04° | C+ 2–, 4 V, 210 µs, 60 Hz 1231 Ω, 3.3 mA | C+ 10–, 4 V, 210 µs, 60 Hz 1142 Ω, 3.5 mA |
| 20 | Medtronic | Bilateral | No | –18.72, 4.99, –1.77 | 19.75, 4.78, –4.30 | C+ 2–, 3.2 V, 120 µs, 130 Hz 1152 Ω, 2.8 mA | C+ 1–, 3.4 V, 120 µs, 130 Hz 839 Ω, 4.0 mA |
[i] *C2 contact coordinates (bottom contact coordinates not available).
Figure 2
Response to DBS by dystonia body region using BFMRS-M. (A) Mean BFMRS-M scores by body region at baseline versus post-DBS. Error bars depict standard error. * Depicts statistical significance with Bonferroni-corrected p < 0.00625. (B) Percent change in BFMRS-M scores by body region post-DBS as defined by >50% improvement, <50% improvement, worse score, or no change.
Figure 3
Response to DBS by dystonia body region using GDRS. (A) Mean GDRS scores by body region at baseline versus post-DBS. Error bars depict standard error. * Depicts statistical significance with Bonferroni-corrected p < 0.0045. (B) Percent change in GDRS scores by body region post-DBS as defined by >50% improvement, <50% improvement, worse score, or no change.