Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis

BACKGROUND: Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS. METHODS: Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months). RESULTS: Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (≥ 20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery. CONCLUSION: This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc

Dairy science & technology

Background: Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS. Methods: Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months). Results: Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (>= 20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery. Conclusion: This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc

Short and long term outcome of bilateral pallidal stimulation in chorea-acanthocytosis

BACKGROUND: Chorea-acanthocytosis (ChAc) is a neuroacanthocytosis syndrome presenting with severe movement disorders poorly responsive to drug therapy. Case reports suggest that bilateral deep brain stimulation (DBS) of the ventro-postero-lateral internal globus pallidus (GPi) may benefit these patients. To explore this issue, the present multicentre (n=12) retrospective study collected the short and long term outcome of 15 patients who underwent DBS. METHODS: Data were collected in a standardized way 2-6 months preoperatively, 1-5 months (early) and 6 months or more (late) after surgery at the last follow-up visit (mean follow-up: 29.5 months). RESULTS: Motor severity, assessed by the Unified Huntington's Disease Rating Scale-Motor Score, UHDRS-MS), was significantly reduced at both early and late post-surgery time points (mean improvement 54.3% and 44.1%, respectively). Functional capacity (UHDRS-Functional Capacity Score) was also significantly improved at both post-surgery time points (mean 75.5% and 73.3%, respectively), whereas incapacity (UHDRS-Independence Score) improvement reached significance at early post-surgery only (mean 37.3%). Long term significant improvement of motor symptom severity (≥ 20 % from baseline) was observed in 61.5 % of the patients. Chorea and dystonia improved, whereas effects on dysarthria and swallowing were variable. Parkinsonism did not improve. Linear regression analysis showed that preoperative motor severity predicted motor improvement at both post-surgery time points. The most serious adverse event was device infection and cerebral abscess, and one patient died suddenly of unclear cause, 4 years after surgery. CONCLUSION: This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc

Regression analysis between preoperative (PREOP) severity of motor impairment, as assessed by the Unified Huntington’s Disease Rating Scale-Motor Score (UHDRS-MS), and motor severity improvement at early and late post-operative time points (EPOP, panel A,

<p>For each patient, motor and functional improvements correspond to the difference between appropriate UHDRS scores at PREOP and EPOP or LOR time points.</p

Effect of deep brain stimulation on independence and functional impairment as assessed by the Unified Huntington’s Disease Rating Scale-Independence Score (UHDRS-IS) and UHDRS-Functional Capacity Score (UHDRS-FCS), respectively.

<p>Bar histograms (panels <b>A</b>, <b>D</b>) represent means ± SEM (n= 11 patients). Line plots (panels <b>B</b>, <b>C</b>, <b>E</b>, <b>F</b>) show individual values per patient plotted at each of three time points: 2-6 months preoperatively (PREOP), 1-5 months postoperatively (early post-operative: EPOP), and 6 months or more after surgery (last outcome reporting: LOR). Individual data curves are shown in panels <b>B</b> and <b>E</b>, whereas panels <b>C</b> and <b>F</b> depict percentage changes at EPOP and LOR with PREOP values set to 100% to make improvements and deteriorations easier to distinguish. *p&lt;0.05 <i>versus</i> the corresponding PREOP time point (Bonferroni test after ANOVA: F_{(2, 20)}= 4.72, p&lt; 0.05, n= 11, and F_{(2, 20)}= 5.94, p&lt; 0.01, n= 11, for UHDRS-IS and UHDRS-FCS, respectively).</p

Effect of deep brain stimulation on motor impairment as assessed by the Unified Huntington’s Disease Rating Scale-Motor Score (UHDRS-MS).

<p>Bar histograms (panel <b>A</b>) represent means ± SEM (n= 11 patients). Line plots (panels <b>B</b>, <b>C</b>) show individual values per patient plotted at each of three time points: 2-6 months preoperatively (PREOP), 1-5 months postoperatively (early post-operative: EPOP), and 6 months or more after surgery (last outcome reporting: LOR). Individual data curves are shown in panel <b>B</b>, whereas panel <b>C</b> depicts percentage changes at EPOP and LOR with PREOP values set to 100% to make improvements and deteriorations easier to distinguish. Scores of patient 7 correspond to the Burke-Fahn-Marsden Dystonia Rating Scale-Motor part (BFMDRS-M) [16]. **p&lt;0.01, ***p&lt;0.001 <i>versus</i> PREOP time point (Bonferroni test after ANOVA: F_{(2, 20)}= 15.11, p&lt; 0.001, n= 11).</p