Table 8.1.
Neuropathologic features of subtypes of NBIA
Subtype | Associated gene | Iron deposition | Pathologic features |
---|---|---|---|
PKAN | PANK2 | GP, SN | NFTs, spheroids |
PLAN | PLA2G6 | GP, SN | Lewy bodies, NFTs, spheroids |
MPAN | c19orf12 | GP, SN | Lewy bodies, spheroids, tau |
ACP | CP | P, CN, GP, Th, DN | GFSB; bizarre astrocytes |
NFT | FTL | P, CN, GP, Th, DN | Distorted, iron-laden nuclei |
FAHN | FA2H | GP, SN | ??? |
KRS | ATP13A2 | CN, P | ??? |
BPAN | WDR45 | SN, GP | Lewy bodies, NFTs, spheroids |
GP, globus pallidus; SN, substantia nigra; CN, caudate nucleus; P, putamen; Th, thalamus; DN, dentate nucleus; NFTs, neurofibrillary tangles; GFSB, grumose or foamy spheroid bodies.