Ontology highlight
ABSTRACT:
SUBMITTER: Cavestro C
PROVIDER: S-EPMC8426226 | biostudies-literature | 2021 Oct
REPOSITORIES: biostudies-literature
Cavestro Chiara C Panteghini Celeste C Reale Chiara C Nasca Alessia A Fenu Silvia S Salsano Ettore E Chiapparini Luisa L Garavaglia Barbara B Pareyson Davide D Di Meo Ivano I Tiranti Valeria V
Neurogenetics 20210813 4
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 transcript isoform due to a novel deep intronic variant (c.2035-274G > A) leading to activ ...[more]