VPS13A disease: Bridging motor dysfunction and psychiatric symptoms – A case report

Abstract

Neuroacanthocytosis encompasses a group of disorders with basal ganglia pathology leading to characteristic movement disorders and a high prevalence of psychiatric manifestations. VPS13A disease (VPS13A-D), formerly known as Chorea-acanthocytosis (ChAc), is a rare autosomal recessive disorder caused by pathogenic variants in the vacuolar protein sorting 13 homolog A (VPS13A) gene that leads to chorein loss and affects the basal ganglia, especially the caudate nucleus.

The available literature reveals a gap in the exploration of the coexistence of neuropsychiatric symptoms, with only a few clinical reports described in psychiatric literature. To improve the understanding of this particular genetic disease, this article reports a clinical case of VPS13A-D and discusses its comorbid neuropsychiatric manifestations by analyzing the presentation, laboratory and imaging findings, and by briefly addressing the distinct neurobiology and neuropathology of this disorder concerning psychiatric manifestations, according to the relevant literature.

We present a 35-year-old male diagnosed with VPS13A-D with an involuntary movement presentation and neuropsychiatric symptoms, including orobuccal self-mutilation, anxiety and obsessive-compulsive traits. The patient received treatment with tetrabenazine (for better control of chorea) and fluvoxamine (to address psychiatric symptoms), showing symptomatic improvement during outpatient follow-up. The discussion delves into the neurobiological framework of VPS13A-D, emphasizing the role of the basal ganglia in both motor and neuropsychiatric manifestations. Psychopathological aspects such as dysexecutive syndrome and obsessive‒compulsive symptoms are explored, highlighting the impact of frontal-subcortical circuits in these presentations.

This case underscores the complexity of neuropsychiatric symptoms associated with VPS13A-D and highlights the challenges in distinguishing between movement anomalies and psychopathology, accentuating the need for a comprehensive approach through multidisciplinary collaboration for improved patient care and outcomes.