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

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

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	+	+	+

Abbreviation: CNS = central nervous system; gc = granule cell; NA = not assessed; Pc = Purkinje cell; PNS = peripheral nervous system.

ISSN: 2051-5960