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Progressive ataxia and palatal tremor

Progressive ataxia and palatal tremor (PAPT) is a rare neurodegenerative disease presenting in mid- to late-adulthood. It is characterized by progressive cerebellar dysfunction and palatal tremor, occasionally associated with other neurological manifestations, especially involving eye movement (e.g. gaze-evoked nystagmus, vertical pendular nystagmus, saccadic pursuit, hypermetric saccades), and often leading to diplopia and oscillopsia. Other clinical features may include brainstem and autonomic involvement (1)(2)(3).^1,2,3

PAPT can be sporadic or familial. In the first case, etiology remains unclear most of the time, but recent neuropathological reports suggest that it may be a tauopathy.³ Familial cases include Alexander disease, POLG mutations, SCA 20, and GM2 gangliosidosis.³ Frequency of sporadic and familial PAPT has not been assessed due to the paucity of reports available.

Typical MRI findings are hypertrophic olivary degeneration and/or cerebellar atrophy, both more common in sporadic PAPT compared to familial PAPT. The latter is usually associated with other radiological signs such as brainstem and spinal cord atrophy, depending on the etiology.^1,2,4

There is no effective treatment for PAPT, but symptomatic pharmacological and physical therapy may improve part of the symptomatology.^1,3

Disclosure

Dr. Gelibter reports no disclosures.

References

1. Samuel M, Torun N, Tuite PJ, Sharpe JA, Lang AE. Progressive ataxia and palatal tremor (PAPT): clinical and MRI assessment with review of palatal tremors. Brain 2004;127:1252–1268.
2. Zuzuárregui JR, Frank SA. Progressive Ataxia and Palatal Tremor. JAMA Neurol 2015;72:1195.
3. Gao AF, Faust-Socher A, Al-Murshed M, et al. Progressive ataxia and palatal tremor: Two autopsy cases of a novel tauopathy. Mov Disord 2017;32:1465–1473.
4. Hainline C, Neophytides A, Borja MJ, Galetta SL. Progressive ataxia and palatal tremor. Neurol Clin Pract 2017;7:e37–e38.

Stefano Gelibter, MD and Resident in Neurology at Neurological Department, San Raffaele University Hospital (Milan, Italy)