TABLE 2.
Regional Distribution and Severity of Fabry Disease Intraneuronal CD77-Positive Gb3 Inclusions in 2 Cases
| Case | 1 | 2 | |
|---|---|---|---|
| olf | Olfactory bulb/tract | − | − |
| dm | Dorsal motor nucleus of the glossopharyngeal and vagal nerves (IX/X) | +++ | ++ |
| am | Ambiguus nucleus | + | + |
| irz | Intermediate reticular zone | ++ | + |
| io | Inferior olivary complex | + | ++ |
| hn | Motor nucleus of the hypoglossal nerve (XII) | + | + |
| rm | Great raphe nucleus | + | NA |
| gig | Gigantocellular nucleus of the reticular formation | + | NA |
| ph | Prepositus hypoglossal nucleus | +++ | NA |
| su | Subventricular nucleus | + | NA |
| fa | Motor nucleus of the facial nerve (VII) | +++ | NA |
| pc | Central reticular nucleus of the pons | ++ | NA |
| tri | Motor nucleus of the trigeminal nerve (V) | +++ | NA |
| dr | Dorsal raphe (supratrochlear) nucleus | +++ | − |
| sn | Substantia nigra, pars compacta & pars reticulata | + | − |
| pa | Paranigral nucleus | + | NA |
| pg | Pigmented parabrachial nucleus | ++ | NA |
| ppt | Pedunculopontine tegmental nucleus | + | NA |
| tro | Trochlear nucleus (IV) | + | NA |
| ce | Central nucleus of the amygdala | +++ | NA |
| ba | Basal nucleus of the amygdala | +++ | ++ |
| la | Lateral nucleus of the amygdala | + | − |
| ct | Cortical nucleus of the amygdala | ++ | NA |
| ac | Accessory cortical nucleus of the amygdala | +++ | +++ |
| db | Interstitial nucleus of the diagonal band | + | + |
| bn | Basal nucleus of Meynert | + | NA |
| ts | Bed nucleus of the terminal stria | ++ | NA |
| so | Hypothalamic supraoptic nucleus | +++ | +++ |
| pv | Hypothalamic paraventricular nucleus | +++ | NA |
| CA4 | Ammon’s horn, fourth sector | (+) | − |
| pro | Prosubiculum | +++ | +++ |
| tre | Transentorhinal region layer pri-β | +++ | NA |
| ent | Entorhinal region layer pri-β | +++ | + |
| pi | Prepiriform cortex (Brodmann Area 51) | +++ | NA |
| mol | Cajal-Retzius cells in the molecular layer between the dentate fascia and Ammon’s horn on both sides of the hippocampal fissure | +++ | NA |
| fu | Fusiform gyrus, layers I and Vb | +++ | NA |
| it | Inferior temporal gyrus, layer Vb | +++ | NA |
| mt | Medial temporal gyrus, layer Vb | + | NA |
| st | Superior temporal gyrus, layer Vb | + | + |
| in | Insula | +++ | NA |
| ai | Agranular insular cortex, layer I Cajal-Retzius cells | ++ | NA |
| ci | Anterior cingulate gyrus, layer I Cajal-Retzius cells | ++ | NA |
| pm | Primary motor area Betz cells (Brodmann Area 4) | (+) | NA |
| vis | Primary visual cortex, layer I Cajal-Retzius cells (Brodmann Area 17) | + | NA |
| vh | Spinal cord ventral horn α-motoneurons (layer 9) | + | NA |
| IML | Intermediolateral nucleus (layer 7) | ++ | NA |
The pathology was assessed semiquantitatively: −, absent or not detectable; +, slight; ++, moderate; +++, severe. Only regions with CD77-positivity are shown. For accompanying heat map, see Supplementary Data Table.
NA, not available.