Abstract
The availability of mutation analysis for the CAG repeat expansion associated with Huntington's disease has prompted clinicians in various specialties to request testing of samples from patients displaying clinical features that might be attributable to Huntington's disease. A series of 38 cases presenting with clinical features thought possibly to be due to Huntington's disease were analysed prospectively. In 53% of such cases presenting initially with chorea and 62.5% with psychiatric symptoms an expansion was identified, a considerable lower proportion than found in previous series where the diagnosis was considered definite on clinical and genetic grounds. Mutation analysis is likely to be of considerable value in the diagnosis of Huntington's disease, especially where the family history in previous generations is inadequate or apparently negative.
Full text
PDF


Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- Andrew S. E., Goldberg Y. P., Kremer B., Squitieri F., Theilmann J., Zeisler J., Telenius H., Adam S., Almquist E., Anvret M. Huntington disease without CAG expansion: phenocopies or errors in assignment? Am J Hum Genet. 1994 May;54(5):852–863. [PMC free article] [PubMed] [Google Scholar]
- Andrew S. E., Goldberg Y. P., Kremer B., Telenius H., Theilmann J., Adam S., Starr E., Squitieri F., Lin B., Kalchman M. A. The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease. Nat Genet. 1993 Aug;4(4):398–403. doi: 10.1038/ng0893-398. [DOI] [PubMed] [Google Scholar]
- Benjamin C. M., Adam S., Wiggins S., Theilmann J. L., Copley T. T., Bloch M., Squitieri F., McKellin W., Cox S., Brown S. A. Proceed with care: direct predictive testing for Huntington disease. Am J Hum Genet. 1994 Oct;55(4):606–617. [PMC free article] [PubMed] [Google Scholar]
- Davis M. B., Bateman D., Quinn N. P., Marsden C. D., Harding A. E. Mutation analysis in patients with possible but apparently sporadic Huntington's disease. Lancet. 1994 Sep 10;344(8924):714–717. doi: 10.1016/s0140-6736(94)92208-x. [DOI] [PubMed] [Google Scholar]
- Duyao M., Ambrose C., Myers R., Novelletto A., Persichetti F., Frontali M., Folstein S., Ross C., Franz M., Abbott M. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet. 1993 Aug;4(4):387–392. doi: 10.1038/ng0893-387. [DOI] [PubMed] [Google Scholar]
- Goldberg Y. P., Kremer B., Andrew S. E., Theilmann J., Graham R. K., Squitieri F., Telenius H., Adam S., Sajoo A., Starr E. Molecular analysis of new mutations for Huntington's disease: intermediate alleles and sex of origin effects. Nat Genet. 1993 Oct;5(2):174–179. doi: 10.1038/ng1093-174. [DOI] [PubMed] [Google Scholar]
- Kupersmith M. J., Kaufman D., Paty D. W., Ebers G., McFarland H., Johnson K., Reingold S., Whitaker J. Megadose corticosteroids in multiple sclerosis. Neurology. 1994 Jan;44(1):1–4. doi: 10.1212/wnl.44.1.1. [DOI] [PubMed] [Google Scholar]
- MacMillan J. C., Snell R. G., Tyler A., Houlihan G. D., Fenton I., Cheadle J. P., Lazarou L. P., Shaw D. J., Harper P. S. Molecular analysis and clinical correlations of the Huntington's disease mutation. Lancet. 1993 Oct 16;342(8877):954–958. doi: 10.1016/0140-6736(93)92002-b. [DOI] [PubMed] [Google Scholar]
- Snell R. G., MacMillan J. C., Cheadle J. P., Fenton I., Lazarou L. P., Davies P., MacDonald M. E., Gusella J. F., Harper P. S., Shaw D. J. Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease. Nat Genet. 1993 Aug;4(4):393–397. doi: 10.1038/ng0893-393. [DOI] [PubMed] [Google Scholar]
- St Clair D. Expanded CAG trinucleotide repeat of Huntington's disease gene in a patient with schizophrenia and normal striatal histology. J Med Genet. 1994 Aug;31(8):658–659. doi: 10.1136/jmg.31.8.658. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Tyler A., Ball D., Craufurd D. Presymptomatic testing for Huntington's disease in the United Kingdom. The United Kingdom Huntington's Disease Prediction Consortium. BMJ. 1992 Jun 20;304(6842):1593–1596. doi: 10.1136/bmj.304.6842.1593. [DOI] [PMC free article] [PubMed] [Google Scholar]