Abstract

Palatal tremor is essential (EPT), where isolated, or symptomatic (SPT), where part of a symptom complex. SPT is reported with lesions in the dentato-rubro-olivary pathway and in neurodegenerative and genetic disorders. Some patients have the poorly understood ‘progressive ataxia and palatal tremor’ (PAPT).

We report a series of twelve patients with SPT. Two have been diagnosed with multi-system atrophy without pathological confirmation. Two have vascular disease affecting the dentato-rubro-olivary pathway. One has mutation-proven Alexander Disease. The remaining seven are all male and classified as sporadic PAPT.

The age range at symptom onset is 36–87 years (36–80 in the PAPT group). All twelve have ataxia. Of the PAPT group, five of seven (71%) have dysarthria. Two PAPT patients had normal DAT scans, and two tested negative for POLG1 and Alexander Disease. Eleven of the twelve (except the Alexander Disease patient) had bilateral olivary hypertrophy on brain MRI.

Palatal tremor is often associated with ataxia. Bilateral olivary hypertrophy in those without Alexander disease is a unifying imaging feature. We suggest screening for POLG1 and GFAP mutations in the presence of suggestive features and/or positive family history, given the overlap in phenotypes and as we have previously reported similar imaging findings in POLG1 disease.