De. Shan et al., GENETIC SCREENING FOR HUNTINGTONS-DISEASE IN CHINESE PATIENTS WITH INVOLUNTARY MOVEMENTS, Clinical neurology and neurosurgery, 99(4), 1997, pp. 244-247
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.