PMC7444269_01
(a) Axial T2-weighted, (b) axial FLAIR and (c) sagittal T2-weighted brain MR imaging showing global cerebellar atrophy (white arrows) with normal brainstem volume. Muscle biopsy disclosed increased subsarcolemmal mitochondrial proliferation with typical ragged-red fibers (RRF) in modified Gomori Trichrome stain (d; white arrows) and ragged-blue fibers in modified succinate-dehydrogenase (SDH) reaction (E; black arrows)
40673_2020_122_Fig1_HTML.jpg
PMC7444269_01_40673_2020_122_Fig1_HTML.jpg
Fig1
Brain magnetic resonance imaging (MRI) disclosed global cerebellar atrophy (Fig. 1). Muscle biopsy disclosed increased subsarcolemmal mitochondrial proliferation with ragged-red fibers (Fig. 1). MERRF (myoclonus epilepsy with ragged-red fibers) genetic spectrum presenting with pure adult-onset cerebellar ataxia was diagnosed.