Skip to main content

Table 1 Summary of the neuropathological findings in autopsied patients with PLA2G6 gene mutations in the literature

From: Extensive aggregation of α-synuclein and tau in juvenile-onset neuroaxonal dystrophy: an autopsied individual with a novel mutation in the PLA2G6 gene-splicing site

Patient Age at onset Age at death Spheroids in the CNS Spheroids in the PNS Neuronal loss in the cerebellum Accumulation of alpha synuclein Accumulation of tau Brain iron
1 [8] 18 y 36 y + NA gc and Pc + + +
2 [1] 3 y 23 y + - gc and Pc + + +
3 [8] childhood 18 y + NA gc and Pc + + +
4 [8] 14 m 8 y + NA gc and Pc + + +
5 [8] infant 8 y + NA NA + - NA
Our patient 3 y 20 y + - gc and Pc + + +
  1. Abbreviation: CNS = central nervous system; gc = granule cell; NA = not assessed; Pc = Purkinje cell; PNS = peripheral nervous system.