Subthalamic Deep Brain Stimulation for Chorea-Acanthocytosis: A Single-Center Case Series

Chorea-acanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive movement disorders. Deep brain stimulation (DBS) targeting the globus pallidus internus has shown efficacy in managing ChAc. However, evidence regarding subthalamic nucleus (STN) DBS remains limited, with only two cases previously reported from our center.

We analyzed seven consecutive patients with ChAc who underwent STN DBS at Ruijin Hospital (2010-2024). Motor symptoms were assessed using the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) and the Unified Huntington's Disease Rating Scale (UHDRS). Quality of life was measured with the 36-Item Short Form Survey (SF-36). Examinations occurred at baseline, early follow-up (EFU,

STN DBS provided significant improvements in chorea symptoms, with 72.7% reduction in UHDRS at EFU (p = 0.0033) and 52.8% at FFU (p = 0.0067). Dystonic symptoms showed marked improvement, with BFMDRS movement scores decreasing by 71.7% at EFU (p = 0.0023) and 48.4% at FFU (p = 0.0198). Significant improvements in BFMDRS mouth subscores were observed at both EFU and FFU compared with baseline (p = 0.0058 and p = 0.0060, respectively). SF-36 showed significant improvements across six domains (physical function, body pain, social function, general health, vitality, and mental health) at both follow-ups (EFU: p < 0.0001; FFU: p = 0.0005). No serious device-related adverse events occurred.

STN DBS is a safe and effective treatment for ChAc, providing sustained relief of motor symptoms. Nevertheless, partial recovery in motor scores may reflect disease progression. Overall, these findings support the STN as a viable therapeutic target for the management of ChAc.