Progressive ataxia and palatal tremor (PAPT) is a rare sporadic or familial syndrome characterized by symptomatic palatal tremor/myoclonus and progressive cerebellar ataxia, usually in the setting of bilateral hypertrophic olivary degeneration without an identifiable causative lesion to the triangle of Guillain and Mollaret (dentatorubro-olivary pathway).
On this page:
Epidemiology
Progressive ataxia and palatal tremor is considered very rare 1,2, but the exact incidence is unknown. Most patients with sporadic disease present as middle-aged adults 2.
Clinical presentation
The cardinal clinical features in all cases of progressive ataxia and palatal tremor include 1-3:
-
symptomatic palatal tremor/myoclonus
rhythmic 1-3 Hz involuntary movement of the soft palate and uvula
often persists during sleep
no associated audible clicking
-
progressive cerebellar ataxia
saccadic pursuit
oscillopsia
limb/truncal/gait ataxia
In the sporadic form, patients may additionally have 1:
dysarthria
dysphagia
In rare familial forms, patients may have a broader phenotype depending on the underlying cause, including 1,2:
upper motor neuron signs (e.g. spasticity, weakness)
movement disorders (e.g. parkinsonism, dystonia, chorea)
cognitive impairment
seizures/epilepsy
optic atrophy
Pathology
Progressive ataxia and palatal tremor may be sporadic or familial 1-3. The aetiopathogenesis of sporadic progressive ataxia and palatal tremor has not been fully elucidated, but there is typically no lesion to the triangle of Guillain and Mollaret (dentatorubro-olivary pathway) 1-3. It has been postulated that there may be a neurodegenerative basis, and multiple studies have identified pathological evidence of tau deposition in the inferior olive in affected patients post-mortem 1.
Familial progressive ataxia and palatal tremor is often seen in the context of other broader syndromes with genetic basis, such as Alexander disease, certain spinocerebellar ataxias, celiac disease, and POLG-related disorders 1-3.
Radiographic features
MRI is the imaging modality of choice to evaluate progressive ataxia and palatal tremor.
MRI
Sporadic progressive ataxia and palatal tremor typically show features of bilateral hypertrophic olivary degeneration (see article for detailed discussion) 1-5. In contrast, familial progressive ataxia and palatal tremor often do not demonstrate hypertrophic olivary degeneration, but may instead have a diverse range of potential radiological manifestations depending on the specific underlying cause 1,2. Within this potentially diverse range, in familial forms, the most common anomalies present include brainstem and cervical cord atrophy 1,2.
Treatment and prognosis
Management is supportive and there is no disease-modifying therapy available 1-3. In familial forms, management should be directed towards the underlying broader syndrome (e.g. gluten-free diet in celiac disease) 1.
Differential diagnosis
other causes of hypertrophic olivary degeneration and symptomatic palatal tremor/myoclonus
Unable to process the form. Check for errors and try again.