Peripheral α-synuclein isoforms are potential biomarkers for diagnosis and prognosis of isolated REM sleep behavior disorder

Laura Arnaldo,Aintzane Urbizu,Mònica Serradell,Carles Gaig,Ana Anillo,Mireia Gea,Dolores Vilas,Lourdes Ispierto,Amaia Muñoz-Lopetegi,Gerard Mayà,Pau Pastor,Ramiro Álvarez,Joan Santamaria,Alex Iranzo,Katrin Beyer

Parkinsonism & Related Disorders（2023）

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摘要

•SNCA transcript expression is reduced in blood in IRBD patients.•SNCAtv3 levels decrease with increased IRBD duration, especially in younger patients.•Rs356219-AA genotype frequency is increased in IRBD patients who developed PD and DLB.•Rs2736990-CC genotype frequency is increased in IRBD patients who remained disease-free over time.

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关键词

Isolated REM sleep behavior disorder,α-synuclein,α-synuclein gene SNCA,Transcript variants,Parkinson disease,GBA,Dementia with Lewy bodies

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