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Molecular analysis and clinical correlations of the Huntington's disease mutation

MacMillan, J. C., Snell, R. G., Tyler, A., Houlihan, G. D., Fenton, I., Cheadle, Jeremy Peter, Lazarou, L. P., Shaw, J. D. and Harper, Peter Stanley 1993. Molecular analysis and clinical correlations of the Huntington's disease mutation. The Lancet 342 (8877) , pp. 954-958. 10.1016/0140-6736(93)92002-B

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The genetic mutation underlying Huntington's disease (HD) has been identified as an expansion and instability of a specific CAG repeat sequence in a gene (IT15) on chromosome 4. We have investigated the relation of the phenotype of HD to this molecular defect and assessed the feasibility of HD mutation analysis in diagnosis and prediction. Analysis of DNA from 449 HD patients (351 familial and 98 apparently isolated cases) revealed the mutation in more than 95% of patients from both groups. No molecular difference was found between patients presenting with psychiatric symptoms and those in whom chorea or other motor defects were the principal features; additionally, there was a wide range of age at onset for any specific repeat number, though the small group with juvenile onset and presenting with rigidity showed the largest expansions. The findings suggest that molecular analysis will be an accuarte ans specific diagnostic test for HD and valuable in presymptomatic detection in individuals at risk. Howecer, such testing, will require considerable caution to avoid serious difficulties, the well-established guideliness developped for the use of linked markers in relation to the prediction of HD should continue to be followed, though they will require reassessment in relation to use in diagnosis.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Medicine
Subjects: R Medicine > R Medicine (General)
Additional Information: Originally published as Volume 2, Issue 8877.
Publisher: Elsevier
ISSN: 0140-6736
Last Modified: 04 Jun 2017 06:32

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