Short and Long Term Outcome of Bilateral Pallidal Stimulation in Chorea-Acanthocytosis

Abstract

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

Chorea-acanthocytosis:Report of 1 case

“…Treatment favors long-term efficacy and relative safety of the bilateral GPi-DBS for severe, drug-resistant hyperkinetic movement disorders in ChAc [1] . In nursing the patient it is important to do the following: Pay attention to oral care, use clean handkerchief in the mouth and change regularly.…”

“…Its clinical manifestations include progressive nerve degeneration, progressive involuntary movement of the mouth and the tongue, self-mutilative bite of lips and tougue, choreatic movements, dysarthria, epilepsy, peripheral neuropathy and acanthocytosis [1,2] . We hereby present a patient with mutations of the VPS13A gene encoding for chorein.…”

The non–Huntington disease choreas

“…20 In addition to a reduction in chorea, positive effects were also seen on self-mutilation and tongue-biting, symptoms that are typically very challenging to treat. In 2 cases, additional stimulation of the thalamic Vo region was required.…”

Chorein Sensitive Arrangement of Cytoskeletal Architecture

“…Loss of function mutations [4] of VPS13A [7,8,9,10] lead to chorea-acanthocytosis (ChAc), an autosomal recessive genetic disease characterized by movement disorder and behavioral abnormalities [4,7,11]. The disease becomes apparent in adulthood and slowly progresses eventually leading to severe neuromuscular dysfunction with several clinical features, such as tongue- and lip-biting, self-mutilations, and seizures [12,13,14,15]. …”