title: Comparison of Huntington's disease CAG Repeat Length Stability in Human Motor Cortex and Cingulate Gyrus.
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.
authors.affiliation: School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.
authors.forename: Fiona C A
authors.initials: FC
authors.lastname: Geraerts
authors.affiliation: School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.
authors.forename: Russell G
authors.initials: RG
authors.lastname: Snell
authors.affiliation: Department of Anatomy and Medical Imaging, Centre for Brain Research, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
authors.forename: Richard L M
authors.initials: RL
authors.lastname: Faull
authors.affiliation: School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.
authors.forename: Liam
authors.initials: L
authors.lastname: Williams
authors.affiliation: School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.
authors.forename: Jessie C
authors.initials: JC
authors.lastname: Jacobsen
authors.affiliation: School of Biological Sciences, Centre for Brain Research, Faculty of Science, The University of Auckland, Auckland, New Zealand.
authors.forename: Suzanne J
authors.initials: SJ
authors.lastname: Reid
mesh_terms: D000704:Analysis of Variance; D006179:Gyrus Cinguli / Q000473:pathology*; D006801:Humans; D000071058:Huntingtin Protein / Q000235:genetics*; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology*; D009044:Motor Cortex / Q000473:pathology*; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*
chemical_list: C086055:HTT protein, human; D000071058:Huntingtin Protein
keywords: Huntington’s disease; small-pool PCR