Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.
Whole-exome sequencing reveals PSEN1 and ATP7B combined variants as a possible cause of early-onset Lewy body dementia: a case study of genotype-phenotype correlation.
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DOI：
10.1007/s10048-022-00699-0
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发表时间：
2022-10
期刊：
影响因子：
2.2
通讯作者：
中科院分区：
文献类型：
--
作者：
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有共同的特征。我们报告一例患者痴呆与路易体携带合并PSEN1和ATP 7B突变。一名男子从60岁开始患上路易体痴呆症。CSF生物标志物为阿尔茨海默病，DaTSCAN异常。全外显子组测序显示一个杂合的p.Ile408Thr PSEN1变异体和一个纯合的p.Arg616Trp ATP 7B变异体。该病例再次表明在评估帕金森综合征患者时需要考虑ATP7B突变，并支持p.Ile408Thr作为致病性PSEN1变异体。
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.
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