Phospholipase A2 associated neurodegeneration

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Phospholipase A2 associated-neurodegeneration (PLAN) is an autosomal recessive form of neurodegeneration with brain iron accumulation (NBIA).

Clinical presentation

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)

Pathology

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.

Iron accumulation is seen in the globus pallidus, dentate nuclei, substantia nigra and/or striatum. Also, optic pathway and cerebellar atrophy can occur.