Huntington's disease: a clinical review
@article{McColgan2018HuntingtonsDA, title={Huntington's disease: a clinical review}, author={Peter McColgan and Sarah J. Tabrizi}, journal={European Journal of Neurology}, year={2018}, volume={25} }
Huntington's disease (HD) is a fully penetrant neurodegenerative disease caused by a dominantly inherited CAG trinucleotide repeat expansion in the huntingtin gene on chromosome 4. In Western populations HD has a prevalence of 10.6–13.7 individuals per 100 000. It is characterized by cognitive, motor and psychiatric disturbance. At the cellular level mutant huntingtin results in neuronal dysfunction and death through a number of mechanisms, including disruption of proteostasis, transcription…
317 Citations
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