Deep brain pallidal stimulation for movement disorders in neuroacanthocytosis

Abstract

Neuroacanthocytosis (NA) encompasses a heterogeneous set of neurodegenerative disorders associated with abnormal red blood cell morphology.1 The movement disorders of NA are often severe and incapacitating and may resist conventional drug therapy (i.e., neuroleptics and tetrabenazine). Encouraged by our previous experience in treating severe truncal spasms in a patient with chorea-acanthocytosis by chronic bilateral high-frequency stimulation of the posterior ventral oral nucleus of the thalamus2 and by the recent literature on the treatment of chorea by bilateral internal globus pallidus stimulation,3,4 we proposed this technique in two cases of NA with severe and intractable movement disorders. The first patient was a 32-year-old man with an 8-year history of choreatic-dystonic syndrome, dysarthria with recurrent distressing tasteless belching, and dramatic tongue biting. Walking was disturbed by intermittent moderate foot and back-arching dystonia. Cognitive impairment was obvious on clinical examination but impossible to test for linguistic reasons. The patient had 10% of acanthocytes among the circulating red blood cells, and an intronic mutation in the CHaC gene was consistent with the diagnosis of choreoacanthocytosis. Risperidone …