Abstract

We present the case of a 40-year-old man who developed progressive ataxia and palatal tremor (PAPT), in association with bilateral optic atrophy and upper motor neuron signs. MRI showed evidence of hypertrophy of the inferior olivary nuclei, marked cerebellar atrophy and bilateral optic nerve atrophy which was further supported by bilateral thinning of the retinal fibre layer detected using optical coherence tomography. No further pathological findings were detected. This syndrome has never been reported before. A wide range of differential diagnoses was excluded including spino-cerebellar ataxias type 1–8, 12 and 20, mitochondrial diseases including Leber's hereditary optic neuropathy, autosomal dominant optic atrophy and polymerase gamma 1 POLG1 gene mutations. It is unclear whether PAPT with optic atrophy is a disease entity or yet another addition to the spectrum of PAPT phenotypes. The presentation will include a video of the clinical features.