Movement disorders clinical practice · 2025
Progranulin Mutation Manifesting as Parkinson Disease: A Case Series from the PADUA-CESNE Cohort.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Bonato Giulia, Campagnolo Marta, Emmi Aron, Misenti Valentina, Carrer Tommaso, Fogliano Carmelo, Salviati Leonardo, Carecchio Miryam, Antonini Angelo
Аннотация
BACKGROUND: Mutations in progranulin (GRN) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients.
CASES: We report three subjects from the PADUA-CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55. All had good response to dopaminergic therapy, abnormal dopamine transporter single-photon emission computed tomography striatal uptake and a disease course consistent with PD, without clear atypical features, behavioral, or cognitive deficits. Genetic testing (next-generation sequencing [NGS] panel) revealed three different variants in GRN gene. Skin biopsy immunohistochemistry analysis showed phosphorylated α-synuclein deposition in two and was negative in one subject.
CONCLUSIONS: Our findings expand the phenotypic spectrum of GRN mutations, showing that patients can present with clinical manifestations of PD, including phosphorylated synuclein pathology in the skin, with a relatively young age of onset. Our observations support the use of broad-spectrum NGS panels to properly guide patients in counseling and accurately allocate them to disease-modifying therapies.
CASES: We report three subjects from the PADUA-CESNE cohort, meeting diagnostic criteria for PD, with onset under age 55. All had good response to dopaminergic therapy, abnormal dopamine transporter single-photon emission computed tomography striatal uptake and a disease course consistent with PD, without clear atypical features, behavioral, or cognitive deficits. Genetic testing (next-generation sequencing [NGS] panel) revealed three different variants in GRN gene. Skin biopsy immunohistochemistry analysis showed phosphorylated α-synuclein deposition in two and was negative in one subject.
CONCLUSIONS: Our findings expand the phenotypic spectrum of GRN mutations, showing that patients can present with clinical manifestations of PD, including phosphorylated synuclein pathology in the skin, with a relatively young age of onset. Our observations support the use of broad-spectrum NGS panels to properly guide patients in counseling and accurately allocate them to disease-modifying therapies.