Fig. 3.
Dopaminergic cell loss and absence of alpha-synuclein pathologies in the substantia nigra of cases with the LRRK2 p.R1441H mutation. Severe losses of dopaminergic neurons were present in the substantia nigra of cases with the mutation, compared with age-matched controls, using a tyrosine hydroxylase (TH) immunostain (a: age-matched control, b: A-II-3, c: A-II-6, d: B-III-2). However, sporadic PD with Lewy pathology corresponding to Braak stage 5 showed typical alpha-synuclein-positive neuronal inclusions in the substantia nigra; there was no Lewy pathology in the substantia nigra or other brain regions of cases with the mutation, as assessed with immunohistochemical analysis for alpha-synuclein (e: age-matched control, f: A-II-3, g: A-II-6, h: B-III-2). The scale bars represent a–d: 1 mm, and e–h: 200 μm, respectively