A cohort of Danish CAG repeat-expansion carriers in HTT gene, diagnosed with Huntington’s disease (HD), was recently published by Vinther-Jensen et al. (2015). This study focused on symptom complexes and searched for modifiers of cognitive impairment and psychiatric symptoms. Based on the results of Vinther-Jensen et al., cognitive impairment and psychiatric symptoms in HD are modified by polymorphisms in the MAOA and COMT genes and by the 4p16.3 B haplotype. Dopamine is thought to be implicated in cognition, behavioral and motor disturbances and its imbalance has previously been shown in HD. The findings of this study provide further evidence for dopamine’s role in HD and point towards more personalized treatment modalities of HD in the future.
Posted by Yannis Trakadis, MD
Psychiatric and cognitive symptoms in Huntington’s disease are modified by polymorphisms in catecholamine regulating enzyme genes T Vinther-Jensen, TT Nielsen, E Budtz-Jørgensen, IU Larsen, MM Hansen, L Hasholt, LE Hjermind, JE Nielsen and A Nørremølle Accepted manuscript online: 17 JUN 2015 01:33AM EST | DOI: 10.1111/cge.12628