Clinical and radiological evaluations in patients with chorea-acanthocytosis referreing to rasool-e-akram hospital

chorea-acanthocytosis is a form of the autosomal recessive disease. The onset of disease symptoms usually starts from the third decade of life and presents with chorea, other abnormal movements such as eating dystonia, tongue and lip biting, vocal and motor tics, seizure, and behavioral impairment. In this study, the clinical presentations and brain imaging of these patients were reported.

In this descriptive study, information about patients with a specific movement disorder who were referred to a tertiary center in the Rasool Akram hospital (Tehran) from March 2018 to February 2019 were recorded. The inclusion criteria were the presence of chorea (a form of abnormal movement) and the presents of acanthocyte cells higher than 10% in a peripheral blood smear. The exclusion criteria were the evidence of secondary causes of the chorea or endocrine disorders. The clinical symptoms and brain imaging findings were evaluated by two expert neurologists and recorded in the patient's electronic files.

Twenty-seven eligible patients were included. 18 patients were male and 9 were female. Sixteen patients had seizures and 90% of them were categorized as generalized tonic-clonic seizures. 21 patients had eating dystonia (71 percent were male and 29 percent were female) and 18 patients had complex motor and vocal tics, 11 patients presented extra ocular movement disorders, and 11 patients had evidence of tongue and lip biting. The absence of the deep tendon reflex was detected in 23 patients. Considering all the patients' movement disorders, the prevalence of eating dystonia was significantly higher in men than in women. (P=0.049). Other abnormal movements were not different between men and female. All patients had caudate atrophy and increased signal intensity in T2/Flair sequences in caudate nuclei and putamen in the brain imaging.

The most common abnormal movement after chorea was eating dystonia. The male gender was more susceptible to present eating dystonia than the female. However, this superiority was not seen in other movement disorders.