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MDS 2020 | Differential diagnosis of Huntington’s disease phenocopies

Amanda Krause, MBBCH, PhD, University of the Witwatersrand, Johannesburg, South Africa, discusses Huntington’s disease phenocopies which can affect patients who display distinct Huntington’s characteristics but report negatively on genetic tests. While Huntington’s phenocopies are less prevalent in other countries, 1-2% of Huntington’s cases, Prof. Krause discusses how in South Africa the prevalence is much higher, 1 in 3 of Huntington’s cases. This is due to all current cases of Huntington’s phenotypes being associated with African ancestry. Prof. Krause also expresses the importance of pursuing the topic as families who test negative for Huntington’s disease could still be affected by a genetic movement disorder. This interview was recorded during an online conference call with The Video Journal of Neurology (VJNeurology).