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Until the advent of mutation analysis it was impossible to make a certain diagnosis of Huntington's disease(HD)in the absence of positive family history,and sporadic cases of possible HD presented a substantial diagnostic dilemma.The identification of the mutation causing HD means that it is now possible to confirm or exclude the diagnosis with confidence,even in the absence of a family history,by analysis of DNA from a blood sample.The precise method of measuring the CAG repeat,which is technically more difficult than the traditional method,may be needed to clarify results in a substantial proportion of such patients. |
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CAG repeats
genetic testing
Huntington's chorea
Huntington's chorea,late onset
Huntington's chorea,misdiagnosis of
Huntington's chorea,sporadic form
neurologic disease,diagnoses of
old age,neurology of
trinucleotide repeats
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