@article{b48b6ec80e33418791ea019c08c7f637,
title = "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",
abstract = "Dementia with Lewy bodies is a neurodegenerative disease, sharing features with Parkinson{\textquoteright}s and Alzheimer{\textquoteright}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{\textquoteright}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.",
keywords = "Alzheimer, Copathology, Genetics, Lewy body dementia, Synuclein, Wilson{\textquoteright}s disease",
author = "Miguel T{\'a}buas-Pereira and Rita Guerreiro and C{\'e}lia Kun-Rodrigues and Almeida, {Maria Ros{\'a}rio} and Jos{\'e} Br{\'a}s and Isabel Santana",
note = "Funding Information: Research reported in this publication was supported by the National Institute on Aging of the National Institutes of Health under Award Number R01AG067426. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. Publisher Copyright: {\textcopyright} 2022, The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.",
year = "2022",
month = oct,
doi = "10.1007/s10048-022-00699-0",
language = "English",
volume = "23",
pages = "279--283",
journal = "Neurogenetics",
issn = "1364-6745",
publisher = "Springer Science and Business Media Deutschland GmbH",
number = "4",
}