Figure 2.

Neuropathology of NCS. (A) A child with NCS died from complications of renal failure at 3.5 years of age. Total brain weight was 636 g (60% of expected) and the hindbrain weighed 7.9% of the total (expected 12%). (B) The cerebellum (yellow arrowhead in A) was small, firm and sclerotic. Luxol Fast Blue (C) and GFAP (D) stains show atrophy and gliosis within cross-sections of the optic nerve. (E) The normal hexalaminar structure of the lateral geniculate nucleus (LGN) is compared with the lateral geniculate nucleus of an NCS child (F), that is nearly devoid of magnocellular neurons, parvocellular neurons, and laminae. (G) Choline acetyltransferase staining of normal striatum reveals several large cholinergic interneurons (arrows), which are absent from a comparable histological section of NCS striatum (H). (I) Normal cerebellar cortex stained with haematoxylin-eosin is compared to that of NCS cerebellum (J), which has short, stubby folia with sparse nuclei in the granule cell layer. (K) Higher magnification shows severe depletion of granule cells with relative preservation of Purkinje neurons (arrow) and a thin, hypercellular molecular layer (ML). (L) Dentate nuclei (arrow) have normal structure and cellularity. (M) Deafferented Purkinje neurons (asterisk) stained for calbindin and neurofilament have ‘weeping’ dendrite configurations, profusion of dendritic elements into ‘asteroid bodies’ (N) and other complex branching patterns (O), and (P) bulbous (‘torpedo’) swelling within proximal axons (arrow).