Parkinson Hastalığı Olarak Progranulin Mutasyon Manifesto: PADUA-CESNE Kohortundan Bir Vaka Serisi.

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BackgroundMutations in progranulin (GRN) are associated with frontotemporal dementia, although a Parkinson disease (PD) phenotype is uncommon, especially in young patients.CasesWe 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.ConclusionsOur 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.

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