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Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

Molecular diagnostic analysis for Huntington's disease: a prospective evaluation. 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. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of Neurology Neurosurgery & Psychiatry British Medical Journal

Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

Molecular diagnostic analysis for Huntington's disease: a prospective evaluation.

Journal of Neurology Neurosurgery & Psychiatry , Volume 58 (4) – Apr 1, 1995

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.

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References (14)

Publisher
British Medical Journal
ISSN
0022-3050
eISSN
1468-330X
DOI
10.1136/jnnp.58.4.496
Publisher site
See Article on Publisher Site

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.

Journal

Journal of Neurology Neurosurgery & PsychiatryBritish Medical Journal

Published: Apr 1, 1995

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