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Войти в исследования Frontiers in genetics · 2025
Case Report: Decoding genetic risks of vascular parkinsonism: a case series.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Shalash Ali, El-Shafie Salma, George Peter, Roushdy Tamer, Fathy Mai, Yousef Mohamed H, El-Belkimy Mahmoud, Abdulghani Mohamed Ossama, Salama Mohamed
Аннотация
BACKGROUND: Vascular parkinsonism (VaP) is a subtype of parkinsonism which needs better characterization of its risks and determinants.
OBJECTIVE: The aim of this report is to present an understanding of genetic risks of vascular parkinsonism.
METHODS: Five participants diagnosed with VaP were recruited and Whole Exome Sequencing (WES) was performed to analyze deleterious variants in relevant genes associated with vascular and parkinsonian diseases.
RESULTS: We identified several candidate risk variants for VaP in our patients, particularly in LRRK2, PLA2G6, TGM6, BSN, UBR4, CD36 and NOTCH3, that are different from the classical Parkinson's disease -associated variants.
CONCLUSION: In this case series we highlighted the complexity of genetic contributions to VaP through predicted deleterious variants in genes associated with parkinsonism, cerebrovascular disease as well as collagen-related genes.
OBJECTIVE: The aim of this report is to present an understanding of genetic risks of vascular parkinsonism.
METHODS: Five participants diagnosed with VaP were recruited and Whole Exome Sequencing (WES) was performed to analyze deleterious variants in relevant genes associated with vascular and parkinsonian diseases.
RESULTS: We identified several candidate risk variants for VaP in our patients, particularly in LRRK2, PLA2G6, TGM6, BSN, UBR4, CD36 and NOTCH3, that are different from the classical Parkinson's disease -associated variants.
CONCLUSION: In this case series we highlighted the complexity of genetic contributions to VaP through predicted deleterious variants in genes associated with parkinsonism, cerebrovascular disease as well as collagen-related genes.