GENETIC SCREENING FOR HUNTINGTONS-DISEASE IN CHINESE PATIENTS WITH INVOLUNTARY MOVEMENTS

The diagnosis of Huntington's disease (HD) can be confirmed by detecti ng the expanded CAG repeat in the IT15 gene. Besides chorea, patients with HD may present with a variety of bizarre involuntary movements, r esulting in confusion in making the diagnosis. Under such conditions, genetic analysis is the final confirmatory test. To determine if any p atient with involuntary movements of undetermined etiology might be re lated to HD, we did genetic analysis on 22 patients and identified thr ee with expanded CAG repeat. We could not obtain family history of HD in these patients due to adoption, early death of parents, or a vague history. All three patients were among the group with generalized chor ea, but one had additional marked dystonic posturing. Together with fo ur clinically recognizable HD patients, the relative frequency of HD a mong the 103 patients with choreiform movements in this hospital is 6. 8%. (C) 1997 Elsevier Science B.V.