Article
Novel deep intronic mutation in PLA2G6 causing early-onset Parkinson's disease with brain iron accumulation through pseudo-exon activation.
Neurogenetics - 1 Oct 2021
Cavestro Chiara, Panteghini Celeste, Reale Chiara, Nasca Alessia, Fenu Silvia, Salsano Ettore, Chiapparini Luisa, Garavaglia Barbara, Pareyson Davide, Di Meo Ivano, Tiranti Valeria
Abstract excerpt
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 regions identified only a heterozygous nonsense variant, but mRNA analysis revealed the presence of an aberrant...
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