Video 1
Patient’s clinical presentation before GPi-DBS, demonstrating cyclical alternation between hyperkinetic and hypokinetic states, reflecting severe motor fluctuations in relation to levodopa ON and OFF phases.
Video 2
Patient’s clinical presentation after GPi-DBS, with active stimulation and on concurrent levodopa medication.
Figure 1
Visualization of electrode placement in a patient with DNAJC6-related juvenile Parkinsonism using Lead-DBS v3. The internal globus pallidus (GPi) is highlighted in green, with the Volume of Tissue Activated (VTA) represented in red. For spatial reference, the background features the 7-Tesla ex vivo human brain template. The patient was implanted with a Medtronic Sensight B33015 lead, and bilateral stimulation was applied with the following parameters: C (+); 1a,b,c (–) 30%, 2a,b,c (–) 70%; 2.2 mA, 60 µs, 130 Hz. Panel (A) presents a coronal view, (B) an axial view from above, (C) a sagittal left view, and (D) a sagittal right view.
Table 1
Clinical Scores.
| PRE GPI-DBS | 3 MONTHS POST GPI-DBS | 12 MONTHS POST GPI-DBS | |
|---|---|---|---|
| UPDRS | 177/260 Part I: 8 Part II: 52 Part III: 99 Part IV: 18 | 103/260 Part I: 7 Part II: 48 Part III: 48 Part IV: 0 | Not assessed |
| CPCHILD | 45/100 | 52/100 | 24/100 |
[i] * UPDRS: Unified Parkinson’s Disease rating scale; CPCHILD: Caregiver Priorities and Child Health Index of Life with Disabilities.
Table 1 presents the patient’s UPDRS and CPCHILD scores before and 3 months after GPi-DBS. CPCHILD was also repeated at 12 months post GPi-DBS. The scores were obtained during ongoing medical treatment and for post-DBS scores with ongoing stimulation. UPDRS assessment was not repeated at 12 months due to the severity of the patient’s neurological impairment at that time point; sustained tremor suppression at this stage reflects clinical observation and caregiver report.
Lower scores on the UPDRS scale indicate better outcomes (i.e., less impairment or burden). Conversely, for the CPCHILD higher scores represent better outcomes in quality of life.
Table 2
Evolution of Deep Brain Stimulation Parameters Over Time.
| TIME AFTER GPI IMPLANTATION (MONTHS) | TARGET | CONTACTS/POLARITY | AMPLITUDE | PULSE WIDTH (µS) | FREQUENCY (HZ) | NOTES |
|---|---|---|---|---|---|---|
| 0 | GPi | – | – | – | – | DBS implantation (GPi) |
| 0.0 | GPi | Case (+), contacts 2–4 (–), 100% distribution | 1.0 mA | 60 | 130 | Initial postoperative setting |
| 0.4 | GPi | Case (+), contacts 2–4 (–) | 2.7 mA | 60 | 130 | Increase in amplitude |
| 1.5 | GPi | Case (+), contacts 2–4 (–) | 3.1 mA | 60 | 130 | Increase in amplitude |
| 3.4 | GPi | Case (+), contacts 2–4 (–), 100% distribution | 2.7 mA | 90 | 130 | Pulse width increased |
| 10.8 | GPi | Case (+), contacts 2–7 (–) | 2.4 mA | 90 | 130 | Extensive testing, including low frequencies and low pulse widths without improvements; Contacts changed |
| 13.6 | STN | – | – | – | – | Additional DBS implantation (STN) |
| 13.6 | GPi | Case (+), contacts 2a–c / 10a–c (–) | 2.4 mA | 90 | 130 | Not changed |
| 13.6 | STN | Case (+), L: 2a–c (–); R: 10a–c (–) | 0.6 mA | 60 | 130 | Initial STN testing monopolar |
| 13.9 | STN | L: 2a–c (–), 3 (+); R: 10a–c (–), 3 (+) | 0.3 mA | 60 | 130 | Bipolar stimulation |
| 14.0 | GPi | Case (+), contacts 2a–c / 10a–c (–) | 2.4 mA | 90 | 130 | Not changed |
| 14.0 | STN | Case (+), L: 2a–c (–); R: 10a–c (–) | 0.8 mA | 60 | 130 | Increased STN amplitude |
| 14.2 | GPi | Case (+), contacts 2a–c / 10a–c (–) | 2.4 mA | 90 | 130 | Not changed |
| 14.2 | STN | Case (+), L: 2a–c (–); R: 10a–c (–) | 1.2 mA | 60 | 130 | Increased STN amplitude |
[i] Shown are the sequential DBS programming settings after initial GPi implantation and later additional STN implantation. For each timepoint, the target, contact configuration and polarity, amplitude, pulse width, frequency, and relevant programming notes are provided. GPi stimulation was initially adjusted by stepwise increases in amplitude and pulse width. Because extensive GPi programming modifications did not result in meaningful improvement, supplementary STN stimulation was introduced and gradually escalated, including testing of both monopolar and bipolar configurations, whereas GPi stimulation parameters were maintained.