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Clinical information was obtained for 172 patients. Of these, 126 patients had an expanded repeat, 77 had a positive, eight a negative, 40 a suspect, and one an unknown family history. Of the 44 patients with a normal repeat length four had a positive family history. Of the two patients with an intermediate repeat (between 30-36 repeats), one with negative family history received a clinical diagnosis of Gilles de la Tourette's syndrome. The other had an unknown family history. Despite verification of the family history through the Leiden roster, many more patients and families could be diagnosed with the new approach that would have been possible with the traditional criteria. Because prevalence studies have been based on this type of information, the data suggest an underestimation of the prevalence of Huntington's disease in the community of 14%. |
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