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

• Published in: PloS one 2013-11, Vol.8 (11), p.e79241-e79241
• Main Authors: Miquel, Marie, Spampinato, Umberto, Latxague, Chrystelle, Aviles-Olmos, Iciar, Bader, Benedikt, Bertram, Kelly, Bhatia, Kailash, Burbaud, Pierre, Burghaus, Lothar, Cho, Jin Whan, Cuny, Emmanuel, Danek, Adrian, Foltynie, Thomas, Garcia Ruiz, Pedro J, Giménez-Roldán, Santiago, Guehl, Dominique, Guridi, Jorge, Hariz, Marwan, Jarman, Paul, Kefalopoulou, Zinovia Maria, Limousin, Patricia, Lipsman, Nir, Lozano, Andres M, Moro, Elena, Ngy, Dhita, Rodriguez-Oroz, Maria Cruz, Shang, Huifang, Shin, Hyeeun, Walker, Ruth H, Yokochi, Fusako, Zrinzo, Ludvic, Tison, François
• Format: Article
• Language: English
• Subjects: Adult; Analysis; Basal ganglia; Brain; Brain Abscess - etiology; Brain diseases; Brain research; Case reports; Central nervous system diseases; Chorea; Cross-Sectional Studies; Deep brain stimulation; Deep Brain Stimulation - adverse effects; Deep Brain Stimulation - instrumentation; Deep Brain Stimulation - methods; Disorders; Drug resistance; Dystonia; Electrodes, Implanted; Female; Globus pallidus; Globus Pallidus - physiopathology; Globus Pallidus - surgery; Health care networks; Hospitals; Humans; Huntingtons disease; Linear Models; Male; Medical research; Medicine; Middle Aged; Movement disorders; Neuroacanthocytosis - physiopathology; Neuroacanthocytosis - surgery; Neuroacanthocytosis - therapy; Neurology; Neurosciences; Neurosurgery; Parkinson disease; Parkinson's disease; Parkinsons disease; Patient outcomes; Patients; Prosthesis-Related Infections - etiology; Regression analysis; Retrospective Studies; Stimulation; Surgery; Swallowing; Time Factors; Treatment Outcome; Young Adult
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0079241

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. 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). 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. This study shows that bilateral DBS of the GPi effectively reduces the severity of drug-resistant hyperkinetic movement disorders such as present in ChAc.