This study reports the first case of Huntington disease-like 1 (HDL-1) in a Chinese family, a rare genetic disorder caused by a mutation in the PRNP gene. The family presented symptoms resembling Huntington’s disease, including involuntary movements, cognitive decline, and mood changes, but genetic testing confirmed a unique 8-repeat insertion in PRNP. Notably, the patient’s choreic movements improved with treatment, a finding not reported before. The research highlights the importance of testing for PRNP mutations in patients with unexplained hereditary chorea, as misdiagnosis can lead to delayed care. This work expands our understanding of prion diseases and underscores the importance of precise genetic diagnostics. (By Dr. Jie Ni, https://jmg.bmj.com/content/early/2025/06/03/jmg-2024-110520 )