J Korean Neuropsychiatr Assoc.
1998 Jul;37(4):752-757.
A Case of Huntington's Disease without Family History Who Has Diagnosed with CAG Repeat Expansion
- Affiliations
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- 1Department of Psychiatry, College of Medicine, Ewha Medical Research Center, Division of Neuroscience, Ewha Womans University, Seoul, Korea.
Abstract
- We report a 48-year-old female with typical symptoms of Huntington's disease, including involuntary movement, cognitive dysfunction and psychiatric symptoms such as personality change, emotional instability, persecutory ideation and depression, but without family history. The diagnosis of HD was confirmed a repetitive DNA sequence(CAG) amplification on HD locus by PCR and pAGE in this case. The DNA analysis showed that she had an allele with 43 repeat units, in the size range seen in HD chromosomes. So we reported this case with literature review.
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