Chorea-acanthocytosis (ChAc) is a rare autosomal recessive
neurodegenerative disease due to mutation of the VPS13A gene encoding the
protein chorein. ChAc is a slowly progressive disorder that typically presents in early adulthood, and whose clinical features include
chorea and
dystonia with involuntary lip, cheek, and tongue biting. Some patients also have
seizures. Treatment for ChAc is symptomatic. A small number of ChAc patients have been treated with bilateral
deep brain stimulation (DBS) of the globus pallidus interna (GPi), and we now present an additional case. Patient chart, functional measures, and laboratory findings were reviewed from the time of ChAc diagnosis until 6 months after DBS surgery. Here, we present a case of ChAc in a 31-year-old male positive for VPS13A gene mutations who presented with
chorea, tongue biting,
dysarthria,
weight loss, and mild
cognitive dysfunction. DBS using monopolar stimulation with placement slightly lateral to the GPi was associated with significant improvement in
chorea and
dysarthria. This case adds to the current state of knowledge regarding the efficacy and safety of bilateral GPi-DBS for symptomatic control of
drug-resistant
hyperkinetic movements seen in ChAc. Controlled trials are needed to better assess the impact and ideal target of DBS in ChAc.