Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson’s and Alzheimer’s diseases. We report a case of a patient dementia with Lewy bodies carrying combined PSEN1 and ATP7B mutations. A man developed dementia with Lewy bodies starting at the age of 60 years. CSF biomarkers were of Alzheimer’s disease and DaTSCAN was abnormal. Whole-exome sequencing revealed a heterozygous p.Ile408Thr PSEN1 variant and a homozygous p.Arg616Trp ATP7B variant. This case reinstates the need of considering ATP7B mutations when evaluating a patient with parkinsonism and supports p.Ile408Thr as a pathogenic PSEN1 variant.

路易体痴呆是一种神经退行性疾病，与帕金森病和阿尔茨海默病具有相同的特征。我们报告了一例携带PSEN1和ATP7B联合突变的路易体痴呆患者。一名男子从 60 岁开始患上路易体痴呆症。脑脊液生物标志物为阿尔茨海默病，DaTSCAN 异常。全外显子组测序揭示了杂合的 p.Ile408Thr PSEN1变异和纯合的 p.Arg616Trp ATP7B变异。该病例再次表明在评估帕金森病患者时需要考虑ATP7B突变，并支持 p.Ile408Thr 作为致病性PSEN1变异。