Skip to main content

Table 2 Summary of pathological findings in DYT1 cases

From: Neuropathological features of genetically confirmed DYT1 dystonia: investigating disease-specific inclusions

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
  1. - = 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.