MDS 2020 | The importance of diagnosis for Huntington’s disease phenocopies

Amanda Krause, MBBCH, PhD, University of the Witwatersrand, Johannesburg, South Africa, discusses the importance of diagnosing Hungton’s phenocopies because of its autosomal dominant nature. Adults diagnosed with the disorder have a 50% chance of passing on the phenocopy and children diagnosed could have implications for their siblings. Currently, the diagnosis has little impact on therapy as it is focused on symptom relief. As gene-specific treatments are developed, those aimed for Hungtinton’s will have no benefit for those with phenocopies. This interview was recorded during an online conference call with The Video Journal of Neurology (VJNeurology).