Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson’s disease with brain iron accumulation through pseudo-exon activation

PLA2G6 is the causative gene for a group of autosomal recessive neurodegenerative disorders known as PLA2G6-associated neurodegeneration (PLAN). We present a case with early-onset parkinsonism, ataxia, cognitive decline, cerebellar atrophy, and brain iron accumulation. Sequencing of PLA2G6 coding re...

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Detalles Bibliográficos
Autores principales: Cavestro, Chiara, Panteghini, Celeste, Reale, Chiara, Nasca, Alessia, Fenu, Silvia, Salsano, Ettore, Chiapparini, Luisa, Garavaglia, Barbara, Pareyson, Davide, Di Meo, Ivano, Tiranti, Valeria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2021
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8426226/
https://www.ncbi.nlm.nih.gov/pubmed/34387792
http://dx.doi.org/10.1007/s10048-021-00667-0

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