Early detection and screening for chorea-acanthocytosis

Abstract:

Objective To explore the clinical characteristics of chorea-acanthocytosis（ChAc）and provide ideas and methods for early diagnosis of the disease.Methods We summarized the clinical characteristics of ChAc through the retrospective cohort study.Results In all the patients diagnosed with chorea，ChAc counted for 29%. The median time of diagnosis was 5.5 years. The mean onset age was（33.57±12.23）years. Seven cases（100%） had oral dyskinesia. Epilepsy occurred in 4 cases（57%），and the seizure type was generalized tonic-clonic seizure. Hypotonia and hyporeflexia were reported in 6 cases（86%）. Plasma creatine kinase increased in 5 cases（71%）. Cranial MRI showed atrophy of caudate nucleus（57%） and pannucleus（29%），and enlargement of both anterior horns of lateral ventricle（57%）. Positron emission tomography（PET）-computed tomography（CT） showed decreased metabolism of bilateral basal ganglia（43%）. All cases were confirmed by the proportion of acanthocytes in peripheral blood smear higher than 3%，and 29% gene sequencing revealed mutation of responsible gene VPS13A.Conclusion The diagnosis time of ChAc is long，and early diagnosis depends on clinical manifestations of oral dyskinesia and creatine kinase elevation. We suggest that chorea patients routinely undergo more than twice of peripheral blood smears，followed by genetic testing to confirm the diagnosis.