Table 2. Immunohistochemical Findings in Neuropathologic Studies of Isolated Dystonia, with no Known Genetic Cause.
| Author | Cases | Regions | Antibodies | Findings |
|---|---|---|---|---|
| Kulisevsky et al.30 | 1 Meige syndrome | Caudate, putamen, pallidum, SN, LC, dentate nucleus | None (conventional staining only) | LBs and mild to moderate neuronal loss in SN and LC, consistent with age |
| Gibb et al.31 | 4 Cranial Dystonia 3 Control |
SN, LC | None (conventional staining only) | No morphologic abnormalities or cell loss evident, using semi-quantitative method |
| Holton et al.32 | 6 Isolated segmental Dystonia 4 Control |
Periaqueductal gray, PPN, cuneiform nucleus, reticular formation, strisome, caudate nucleus, putamen, globus pallidus, hippocampus | torsinA, ubiquitin, lamin A + C, GFAP, Aβ, tau, α-synuclein, | No intraneuronal inclusions, no striatal neuronal loss |
| Prudente et al.33 | 6 Isolated cervical dystonia 16 control |
Somatosensory ctx, caudate, putamen, globus pallidus, SN, red nucleus, cerebellar hemispheres and deep nuclei | Parvalbumin, calbindin, calretinin, ubiquitin, IC2, TDP-43, GFAP, HLA-DR | Ubiquitin inclusions in SN, Reduced Purkinje cell density in cerebellum |
| Mente et al.34 | 8 Isolated cervical dystonia 7 Control |
PPN, frontal ctx, parietal ctx, hippocampus, cerebellum | ChAT | Reduced ChAT staining in PPN |
CD68 is expressed in activated microglia; laminin A + C is a nuclear envelope marker.
Abbreviations: AT8, Anti-Phospho-Tau; ChAT, Choline Acetyl Transferase; ctx, Cortex; GFAP, Glial Fibrillary Acid Protein, a marker of reactive astrocytes; HLA-DR, Human Leukocyte Antigen DR isotype, a marker of reactive glia; IC2, anti-polyglutamine antibody; LB, Lewy Body; LC, Locus Coeruleus; NPY, Neuropeptide Y; PPN, Pedunculopontine Nucleus; SN, Substantia Nigra; TDP-43, Transactive Response DNA Binding Protein 43 kDa, a component of neuronal aggregates in some neurodegenerative diseases; TH, Tyrosine Hydrdoxylase.