Purpose: To describe the eye movement abnormalities in patients with chorea-acanthocytosis (ChAc), a form of neuroacanthocytosis. This autosomal recessive, neurodegenerative disorder with aberrant erythrocyte morphology (acanthocytosis) is caused by mutations in the VPS13A gene. In contrast to Huntington's disease (for which ChAc has occasionally been mistaken), ocular involvement in ChAc has not been systematically studied.
Methods: Three patients aged 26, 30, and 44 years with ChAc and six normal volunteers aged 31 to 48 years were included. Patients had dystonia, chorea, parkinsonism, dysarthria, dysphagia, seizures, cognitive abnormalities, and acanthocytosis. All had heterozygous VPS13A mutations and degeneration of the basal ganglia on magnetic resonance imaging (MRI) typical of ChAc. Patients had an extensive clinical and laboratory work-up. Neuro-ophthalmic examinations and eye movement recordings made with the magnetic search coil technique assessed patients' fixation characteristics, horizontal and vertical saccades, pursuit, and antisaccades. These were compared to the data of control subjects.
Results: Patients exhibited more than 30 square-wave jerks (small saccadic intrusions) per minute, versus 0 to 8 in the control subjects, as well as fractionated (multistep) and hypometric horizontal and vertical saccades. Decreased saccadic peak-velocity and reduced saccadic range were more pronounced for vertical saccades. Pursuit testing performed in two patients showed low gain. Results of antisaccade testing done in one patient were abnormal.
Conclusions: The findings suggest brain stem involvement as an additional site of neurodegeneration outside the basal ganglia in ChAc. Patients with this progressive, intractable disease have pronounced ocular motor abnormalities. Eye movement recordings could assist in diagnosing ChAc, monitoring its progression and possible treatment evaluation.