Table 2.
Summary of pathological findings in DYT1 cases
| Case | Brain weight (g)* | Infarction | Aβ pathology | Tau pathology | Lewy body pathology | SVD | CAA | Final neuropathological diagnosis* | |
|---|---|---|---|---|---|---|---|---|---|
| D | M | ||||||||
| 1 | N/A | - | + | - | - | - | + | - | • moderate atherosclerosis of cerebral vessels |
| • mild neuronal loss and gliosis in hippocampus between the CA1 region and the subiculum | |||||||||
| • mild loss of Purkinje cells in the cerebellum | |||||||||
| • mineralization of vessel walls in the dentate nucleus | |||||||||
| • non-specific neurodegenerative changes | |||||||||
| 2 | 1110 | globus pallidus | + | + | - | - | +++ | + | • mild cerebral artery atherosclerosis |
| • right middle cerebral artery territory subacute infarct | |||||||||
| • possible AD | |||||||||
| 3 | 1200 | - | - | - | - | - | - | - | • mild cortical atrophy |
| • small areas of infarction | |||||||||
| • cerebral athero-arterio-arteriolosclerosis, remote frontal white matter infarct | |||||||||
| 4 | 1010 | globus pallidus | +++ | ++ | + (cortex, striatum and brainstem) | - | + | ++ | • cerebral artho-arteriosclerosis (a) microinfarcts in cerebral white matter, deep gray nuclei and occipital cortex (b) macro infarct in right posterior internal capsule and pulvinar |
| • hippocampal sclerosis | |||||||||
| 5 | N/A | midbrain tegmentum | ++ | ++ | + (cortex, striatum and brainstem) | ++ (cortical and brainstem) | + | - | • diffuse LB disease (a) substantia nigra degeneration with LBs (b) neocortical LBs (c) AD neuropathology |
| • cerebrovascular disease (a)numerous infartcs of different ages (b) atherosclerotic disease of circle of Willis arteries | |||||||||
| 6 | 1184 | - | ++ | + | + (cortex, striatum and brainstem) | - | + | + | • brain generalized atrophy |
| • focal acute (perimortem) petechial hemorrhages | |||||||||
| 7 | N/A | - | - | - | + (brainstem) | + (substantia nigra) | - | - | • melanocytic neoplasm with diffuse leptomeningeal and perineural spread |
- = absent; + = occasional/mild; ++ = moderate; +++ = severe; N/A-not available; SVD- Small vessel disease; CAA- Cerebral amyloid angiopathy; Aβ: D-diffuse plaques, M-mature plaques; AD: Alzheimer’s disease; LB: Lewy body; *: Derived from neuropathology report issued by BTDBB.