Table 4.
Summary of PARKIN Autopsy reports
| Report | Number of autopsies |
Genotype | Phenotype | Pattern of Neuronal Loss |
LB, LN Pathology |
LB Distribution– Braak Stage |
Tau Pathology– NFT Stage |
Other Inclusions |
|---|---|---|---|---|---|---|---|---|
| Takahashi et al., 1994166; Matsumine et al., 1997167 | 2 | no details reported | JPD | LC>SNpc | − | − | n.d. | − |
| Yamamura et al., 1998168 | 1 | Homozygous del between exon 3 and 7 | EOPD | SNpc>LC | − | − | − | − |
| Mori et al., 1998169 | 1 | Homozygous exon 4 del | EOPD | SNpc>LC | − | − | 3 | Thorn-shaped astrocytes |
| Hayashi et al., 2000170 | 1 | Homozygous exon 4 del | EOPD | SNpc>SNpr, LC | − | − | Sparse | |
| van de Warrenburg et al., 2001171 | 1 | Compound heterozygous exon 3 del/exon 6 transversion | EOPD | SNpc>LC | − | − | Diffuse in the caudate nucleus, putamen, subthalamic nucleus and SN | Thorn-shaped astrocytes |
| Farrer et al., 200142 | 1 | Compound heterozygous exon 7 R275W/exon 3 del | EOPD, writer’s cramp | SNpc, LC | + | 4 | − | − |
| Mori et al., 200353 | 1 | Compound heterozygous exon 6del/exon 7 del | EOPD | SNpc>LC | − | − | − | − |
| Gouider-Khouja et al., 2003172 | 1 | Homozygous exon 2 del | EOPD | SNpc, SNpr>LC | − | − | − | − |
| Sasaki et al., 200447, 200846 | 1 | Homozygous exon 3 del | EOPD | SNpc>LC | Basophilic LB-like in PPN | − | − | Eosinophilic LB in anterior horn cells |
| Pramstaller et al., 200543 | 1 | Compound heterozygous exon 7 del and 1072T del | PD | SNpc, LC | + | 3 | − | − |
| Orimo et al., 2005173 | 3 | Homozygous exon 4 del | EOPD | n.d.§ | n.d. | n.d. | n.d. | Numerous TH-immunoreactive nerve fibers in the epicardium |
| Miyakawa et al, 201344 | 1 | Homozygous exon 2–4 del | Late-onset PD | SNpc, LC, severe | +, fairly widespread | 4 | Yes | Eosinophilic inclusions with HE, TH and phosphorylated neurofilament in epicardium |
| Doherty et al., 201345 | 5 | R275W/del exon 6; R275W/Pro113fs; R275W/G430W; G430D/Pro113fs; R275W/del exon 6 | EOPD (2), iPD (3) | Moderate to severe in SNpc, mild to moderate in LC; SNpc>LC in all | + (in 2), − (in 3) | # | Absent (in 2) or only mild (in 3 cases) u | TDP-43–positive inclusions abesent; |
| Cornejo-Olivas et al., 2015174 | 1 | Compound heterozygous intron 5 splice site mutation (IVS5-1G>A)/exon 7 del | JPD | SNpc | − | − | n.d. | TH immunopositive fibers in striatum |
| Morales et al., 200252 | 1 | Heterozygous C212Y mutation | PSP | SNpc/pr, striatum, GP, nbM, STN, thalamus | − | − | − | − |
| Ruffmann et al. 201345 | 1 | Heterozygous R275W mutation | iPD, onset 62 yrs | Severe in SN and LC | + | 6 | Pre-tangles in subiculum, transentorhinal and entorhinal cortex | Widespread cortical deposition of βAP |
| Sharp et al. 2014175 | 1 | Heterozygous exon 3–4 del | EOPD | Severe in SN and LC | + | 6 | 1 | − |
Patients, i.e. homozygous and compound heterozygous mutation carriers, are shaded in light grey; single mutation carriers carriers are shown in white cells. Abbreviations: del = deletion; SNpc = substantia nigra pars compacta; SNpr = substantia nigra pars reticulata; GP = globus pallidus; LB = Lewy body; LN = Lewy neurites; TH = tyrosine hydroxylase; HE = haematoxylin and eosin stain; βAPs = β-amyloid plaques; EOPD = early-onset PD; JPD = juvenile-onset PD; # = the pattern of pathology did not conform well to the Braak PD staging scheme as the density of brainstem LBs did not show the expected increase when LB pathology extended beyond the brainstem; § = immunohistochemical study of heart tissues, not brain