Table 2.
Neuropathological features in eight HDLS cases with CSF1R mutation
| Case | Case 2 | Case 3 | Case 5 | Case 7 | Case 8 | Case 9 | Case 12 | Case 13 |
|---|---|---|---|---|---|---|---|---|
| Ventricular enlargement | +++ | na | na | +++ | +++ | na | na | na |
| White matter changes | ||||||||
| Frontal lobe | + | +++ | +++ | ++ | +++ | +++ | +++ | +++ |
| Parietal lobe | + | ++ | ++ | + | + | ++ | na | + |
| Temporal lobe | - | +++ | - | - | - | na | ++ | ± |
| Occipital lobe | - | + | na | - | - | + | na | ± |
| Corticospinal tracts degeneration | ||||||||
| Motor cortex | +++ | na | na | +++ | + | na | na | na |
| Posterior limb of internal capsule | +++ | ++ | +++ | + | - | ++ | + | +++ |
| Cerebral peduncle | +++ | ++ | +++ | ++ | - | + | + | ++ |
| Pontine base | ++ | ++ | +++ | + | - | - | ± | + |
| Medullary pyramids | na | + | na | ± | - | - | - | ± |
| Anterior corticospinal tracts | na | ± | - | na | na | na | na | + |
| Posterior corticospinal tracts | na | ± | +++ | na | na | na | na | + |
| Neuronal loss in the substantia nigra | + | - | - | + | - | - | ±¥ | - |
| Gliosis in the basal ganglia | ±£ | -€ | -€ | + | - | +© | na | + |
| Braak PD stage | 0 | -* | -* | 0 | 0 | -* | 1† | 3‡ |
| Braak NFT stage | 0 | 0 | 0 | 0 | II | I | 0 | III |
Only autopsy cases with multiple sections, including neocortexes, basal ganglia, thalamus, midbrain, pons, and medulla available are summarized in the table. CSF1R: Colony stimulating factor 1 receptor; HDLS: Hereditary diffuse leukoencephalopathy with spheroids; na: Not available; NFT: Neurofibrillary tangle; PD: Parkinson’s disease; -: None, ±: Minimal; +: Mild; ++: Moderate; +++: Severe;
Only a small part of the substantia nigra was available;
Only an anterior part of the putamen was available;
Only posterior and lateral parts of putamen were available;
Only a lateral part of putamen was available;
Lewy bodies were not seen in the substantia nigra with H&E staining;
A few neurites were seen in medullary raphe abscurus;
Incidental Lewy body disease (there is no neural loss in the substantia nigra and dorsal motor nucleus of the vagus, and minimal neuronal loss in the locus ceruleus)