Affiliations: [a] School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand
| [b] Department of Anatomy and Medical Imaging, Centre for Brain Research, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand
Correspondence:
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Correspondence to: Jessie Jacobsen, School of Biological Sciences, The University of Auckland, Private Bag 92019, Auckland Mail Centre, Auckland 1142, New Zealand. Tel.: +64 9 3737599; E-mail: j.jacobsen@auckland.ac.nz.
Abstract: Huntington’s disease is caused by expansion of the CAG repeat in Huntingtin. This repeat has shown tissue-specific instability in mouse models and in a small number of post-mortem human samples. We used small-pool PCR to generate a modified instability index to quantify CAG instability within two brain regions from six human samples where cell loss has been associated with motor and mood symptoms: the motor cortex and cingulate gyrus. The expanded allele demonstrated instability in both regions, with minimal instability in the unexpanded allele. Region-specific differences were not observed, suggesting symptomatology may not be determined by repeat length instability.