Abstract
We present a unique thirty-nine year old woman with both Huntington's disease (HD)
and spinocerebellar ataxia type 10 (SCA10). She has 48 CAG repeats in the HD gene
and 2511 ATTCT repeats in the ATX10 gene. Although both conditions are repeat expansion
diseases they are thought to have quite different pathogenic mechanisms. The symptomatic
age of onset in this patient (mid30s) is within the expected range for her repeat
expansion sizes for each condition, but we discuss the evidence that the two conditions
may interact to produce a more severe cognitive phenotype than would be expected for
either of the conditions independently. The subject has Amerindian background on the
maternal side from Colombia, South America, thus adding a 5th country expressing SCA10,
all with Amerindian ancestry.
Keywords
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Article info
Publication history
Published online: October 19, 2012
Accepted:
September 27,
2012
Received in revised form:
September 24,
2012
Received:
August 8,
2012
Identification
Copyright
© 2012 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
