Clinical case report: Chorea-acanthocytosis of the c.9109 C>T variant in the VPS13A gene

Background Neuroacanthocytosis is a rare genetic condition that leads to progressive neurological decline and the presence of misshapen red blood cells (acanthocytes). Chorea-acanthocytosis (ChAc) is a form of neuroacanthocytosis and may present as multiple phenotypes where the main clinical manifestation is involuntary movements, which may be accompanied by neuropathy, psychiatric symptoms, neurocognitive degeneration, and seizures. Case presentation We present the first clinical case of a C.9109 C > T genetic variant in the VPS13A gene in Mexico. The case described involves a 33-year old woman with isolated episodes of dizziness, musculoskeletal pain, tonic-clonic seizures, feeding dystonia, and involuntary oromandibular and limb movements. The peripheral blood presents acanthocytes and high levels of CPK. These findings led to a request for a molecular evaluation of VPS13A finding a genetic variant C.9109>T. Conclusions This report will provide information regarding this novel alteration in our country and to highlight the importance of an early diagnosis which greatly favors a positive outcome of symptomatic management and provides a better quality of life for patients.