Macroscopic features and α-synuclein pathology of a patient with heterozygous COQ2 p.S146N variant (A-H). The infratentorial tissues were remarkable for severe atrophy of the pontine base and the inferior olive (A). The trigeminal nerve was unusually prominent due to the extreme pontine atrophy (arrows). Horizontal sections of the midbrain were remarkable for extremely marked atrophy (B). The substantia nigra had a loss of pigmentation. The cerebrum peduncle was severely atrophic (B, arrowheads). Immunohistochemical staining for α-synuclein (LB509, mouse monoclonal; 1:100) in the globulus pallidus (C), putamen (D), substantia nigra (E), pontine nucleus (F), inferior olive (G), and the cerebellar white matter (H). Analysis of COQ2 gene in multiple system atrophy: Ogaki K, Fujioka S, Heckman MG, Rayaprolu S, Soto-Ortolaza AI, Labbé C, Walton RL, Lorenzo-Betancor O, Wang X, Asmann Y, Rademakers R, Graff-Radford N, Uitti R, Cheshire WP, Wszolek ZK, Dickson DW, Ross OA - Molecular neurodegeneration (2014). Not altered. CC.