Phospholipase A2 associated neurodegeneration
Phospholipase A2 associated neurodegeneration (PLAN) is an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA).
PLA2G6 associated diseases have variable syndromes:
- classic infantile neuroaxonal dystrophy (INAD)
- atypical neuroaxonal dystrophy (aNAD) of childhood-onset
- PLA2G6-related dystonia-parkinsonism with late onset in adulthood (PARK14)
The failure in the expressed gene PLA2G6 (chromosome 22q13.1) that encodes phospholipase A2 group VI results in neurodegeneration with brain iron accumulation, gliosis and degeneration of the optic pathways.
- 1. SALOMAO, Rubens Paulo Araújo et al. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq. Neuro-Psiquiatr. 2016, vol.74, n.7, pp.587-596. ISSN 0004-282X. http://dx.doi.org/10.1590/0004-282X20160080.