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A Worldwide Study of the Huntington's Disease Mutation: The Sensitivity and Specificity of Measuring CAG Repeats

1994; Massachusetts Medical Society; Volume: 330; Issue: 20 Linguagem: Inglês

10.1056/nejm199405193302001

1533-4406

Berry Kremer, Paul Goldberg, Susan E. Andrew, Jane Theilmann, Håkan Telenius, Jutta Zeisler, Ferdinando Squitieri, Biaoyang Lin, Ann Bassett, Elizabeth Almqvist, Thomas D. Bird, Michael R. Hayden,

Mitochondrial Function and Pathology

Huntington's disease is associated with an expanded sequence of CAG repeats in a gene on chromosome 4p16.3. However, neither the sensitivity of expanded CAG repeats in affected persons of different ethnic origins nor the specificity of such repeats for Huntington's disease as compared with other neuropsychiatric disorders has been determined.