Table 1. Immunohistochemical Findings in Neuropathologic Studies of Genetic Forms of Dystonia.
| Author | Cases | Regions | Antibodies | Findings |
|---|---|---|---|---|
| Walker et al.8 | 1 DYT1 4 Control |
motor ctx, hippocampus, caudate, putamen, SN, cerebellum | torsinA, PDI | No torsinA aggregates |
| Rostasy et al.9 | 6 DYT1 9 Control |
hippocampus, neostriatum, SN, cerebellum | torsinA, GFAP, HLA-DR, β-amyloid, ubiquitin | No difference in staining pattern between cases and controls |
| McNaught et al.10 | 4 DYT1 4 Control |
ctx, hippocampus, striatum, midbrain, pons | UPC, α-synuclein, lamin A/C, MAP2, ChAT, GFAP, β-amyloid, PDI, torsinA | Intraneuronal ubiquitin + and torsinA+ inclusions in midbrain, pons and periacqueductal gray |
| Paudel et al.11 | 7 DYT1 | Frontal ctx, temporal ctx, striatum, globus pallidus, thalamus, STN, cerebellum, midbrain, pons, medulla | Ubiquitin, tau, GFAP, α-synuclein, p62, CD68, TDP-43 | No intraneuronal inclusions |
| Pratt et al.12 | 6 DYT1 7 Control |
striatum, motor ctx, sensory ctx, midbrain, pons | torsinA, UPC, β-amyloid, AT8, α-synuclein | No torsinA aggregates |
| Iacono et al.13 | 2 DYT1 manifesting 2 DYT1 non-manifesting 4 Control |
SN | torsinA, ubiquitin, β-amyloid, α-synuclein, pTDP-43, laminin A + C, CD68 | |
| Paudel et al.18 | 2 DYT6 | Ctx, hippocampus, caudate, putamen, globus pallidus, thalamus, STN, SN, LC, pontine nuclei, dorsal motor nucleus of vagus, 12th nerve nucleus, inferior olive, cerebellum | Ubiquitin, tau, GFAP, Aβ, internexin, α-synuclein, p62, TDP-43 | No neuronal loss, no gliosis, no Lewy bodies in cortex or brainstem |
| Waters et al.25 | 1 DYT3 | Cerebral ctx, cerebellum, midbrain, pons, medulla | GFAP | Purkinje cell loss (not quantified), astrocytosis in white matter of cerebellum, astrocytosis in mosaic pattern in caudate and putamen |
| Goto et al.26 | 7 DYT3 7 Controls |
Striatum, SN | Calcineurin, calbindin, TH, GFAP, ChAT | Preferential cell loss in striosome |
| Goto et al.27 | 4 DYT3 | Striatum | Neuropeptide Y, Met-enkephalin, calcineurin | Reduced NPY staining in striosome, compared to matrix |
| Grotzsch et al.16 | 1 DYT5a 1 Control |
Ctx, hippocampus, thalamus, caudate, putamen, globus pallidus, cerebellar ctx, medulla, mesencephalon, pons | GFAP, ubiquitin | Reduced melanin-containing neurons in SN |
| Oblak et al.29 | 4 DYT12 | Globus pallidus, STN, red nucleus, inferior olivary nucleus, Cerebellar Purkinje and granular cell layers, dentate nucleus | Aβ, AT8, GFAP, α-synuclein, TDP-43, ubiquitin, syantophysin, calbindin | Neuronal loss in: globus pallidus, STN, Purkinje and granular cell layers of cerebellum, dentate nucleus, red nucleus, inferior olivary nucleus |
CD68 is a marker of macrophages and is expressed in activated microglia; p62 is a marker of autophagy.
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; laminin A + C, nuclear envelope marker; LC, Locus Coeruleus; MAP2, Microtubule-Associated Protein 2, a marker of neuronal dendrites and cell bodies; NPY, Neuropeptide Y; PDI, Protein Disulfide Isomerase, an endoplasmic reticulum marker; pTDP-43, Phosphorylated Transactive Response DNA binding protein 43 kDa; SN, Substantia Nigra; STN, Subthalamic Nucleus; TDP-43, Transactive Response DNA Binding Protein 43 kDa, a component of neuronal aggregates in some neurodegenerative diseases; TH, Tyrosine Hydrdoxylase; UPC, Ubiquitin Protein Conjugate.