Table 2.

Summary of post-mortem neuropathological findings from patients with various PARK2 mutations.

References	PARK2 Genotype	Age of Onset	Age of Death	Neuropathology	Lewy Body Pathology
[139]	No details reported	NA	67	Loss of neurons and gliosis in SNpc and locus coeruleus.	No
[140,141]	Homozygous deletion between exon 3 and 7.	20	52	Loss of neurons in SNpc and gliosis.	No
[101]	Homozygous exon 4 deletion.	24	62	Moderate loss of neurons in SNpc and locus coeruleus. Tau pathology in hippocampus and neurofibrillary tangles in the frontal, temporal, and parietal cortices.	No
[142]	Homozygous exon 4 deletion	32	70	Loss of neurons and gliosis in SNpc and locus coeruleus. Few Neurofibrillary tangles observed.	No
[131]	Exon 7 R275W missense mutation and exon 3 deletion	41	52	Loss of neurons in SNpc and locus coeruleus.	Yes
[143]	Exon 6 K211N missense mutation and exon 3 deletion.	18	75	Loss of neurons in SNpc and the spinocerebellar system. Tau pathology in caudate nucleus, putamen, subthalamic nucleus, and substantia nigra was reported, but neurofibrillary tangles were absent.	No
[144]	Homozygous two-base AG deletion in exon 2	34	47	Loss of neurons in SNpc and SNpr with astrocytic gliosis.	No
[138]	Homozygous exon 3 deletion	33	70	Moderate to severe depletion of neurons in SNpc and gliosis. Only a mild decrease of neurons in locus coeruleus.	LB in the pedunculopontine nucleus.
[132]	Exon 7 deletion + T1072 deletion	49	73	Reactive gliosis and loss of neurons in SNpc and locus coeruleus.	Yes
[145]	Homozygous exon 4 deletion	24	73	Loss of neurons and gliosis in SNpc and locus coeruleus.	No
[133]	Heterozygous R275W mutation in exon 7.	62	80	Severe loss of neurons in SNpc and locus coeruleus. Pre-tangles observed in subiculum, transentorhinal, and entorhinal cortex.	Yes
[134]	Homozygous deletion of exon 2 to 4.	61	72	A marked decrease in neurons of SNpc and locus coeruleus. Tau pathology was observed in the entorhinal cortex.	Yes
[135]	Case 1: R275W + exon 6 deletion	36	86	Moderate to severe loss of neurons in SNpc in all cases and mild to moderate loss of neurons in locus coeruleus. Hyperphosphorylated tau deposition observed in case 3.	Only in case 3 and 5.
	Case 2: R275W + pro113fs	25	62
	Case 3: R275W + G430W	33	60
	Case 4: G430D + pro113fs	32	68
	Case 5: R275W + exon 6 deletion	46	82
[136]	Exon 7 R275W missense mutation and exon 6 deletion	48	82	Moderate loss of neurons in SNpc.	Yes
[137]	Heterozygous exon 3–4 deletion.	44	76	Severe loss of neurons in SNpc and locus coeruleus. Presence of neurofibrillary tangles.	Yes
[146]	Splice site mutation in intron 5 (IVS5-1G>A) and exon 7 deletion.	16	60	Severe loss of neurons in SNpc. Neurofibrillary tangle pathology was observed.	No
[147]	Homozygous deletion of exon 3–4.	20	79	Severe neuronal loss and gliosis in SNpc. Scanty tau pathology was observed.	No