Objective: To further characterize the clinical syndrome of sporadic progressive ataxia and palatal tremor (PAPT).

Background: Defined by adult-onset progressive cerebellar features and tremor of the soft palate, PAPT is a rare disorder subdivided into sporadic and familial forms. Bilateral hypertrophic olivary degeneration (HOD) has been reported as an imaging finding in sporadic PAPT, and has not been seen in the familial variants. Preliminary pathologic studies suggest that sporadic PAPT may represent a novel tauopathy, but clinical characterization of this syndrome remains limited.

Method: Through review of medical records and polling clinicians’ experience, we identified five patients at our center with a diagnosis of sporadic PAPT.

Results: Three patients were male and two were female. All reported a history of progressive imbalance, with a mean age of onset of 64 years (range 61-66). Additional symptoms included speech changes in three patients, bilateral hand incoordination in one patient, oscillopsia in one patient, and a clicking sensation in the throat in one patient. Physical examination revealed gait ataxia and palatal tremor in all patients. Except for the reported clicking sensation in one case, palatal tremor was not recognized by the patients and was not accompanied by an audible click. Additional common examination findings included dysarthria in three patients, appendicular dysmetria in three patients, and nystagmus and ocular dysmetria in two patients. Medical history was notable for severe mixed sensorimotor neuropathy in one patient, bipolar disorder with antipsychotic exposure and essential tremor in one patient, and cervical stenosis in two patients who underwent decompressive surgery without benefit. Two patients had a family history of imbalance of unclear etiology. T2-weighted magnetic resonance imaging demonstrated bilateral HOD in all cases. Reversible ataxia serum studies were unrevealing. GFAP and POLG genetic tests in two cases and comprehensive ataxia genetic panel in three cases were negative.

Conclusion: The diagnosis in these five cases is most likely sporadic PAPT, given the clinical findings, the negative work-up for acquired or genetic causes of ataxia, and the presence of bilateral HOD. Time of onset, symptomatology, and imaging were notably similar, supporting sporadic PAPT as a distinct clinical entity. Additional prospective and neuropathological assessments are needed to better understand this disease.

References: 1. Bhattacharjee S. Palatal Tremor – Pathophysiology, Clinical Features, Investigations, Management and Future Challenges. Tremor and Other Hyperkinetic Movements. 2020;10(0):40.
2. Gao AF, Faust-Socher A, Al-Murshed M, Del Bigio MR, Lang AE, Munoz DG. Progressive ataxia and palatal tremor: Two autopsy cases of a novel tauopathy. Movement Disorders. 2017;32(10):1465-1473.
3. Mari Z, Halls AJM, Vortmeyer A, et al. Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy. Movement Disorders Clinical Practice. 2014;1(1):50-56.
4. 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(6):1252-1268.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/sporadic-progressive-ataxia-and-palatal-tremor-a-case-series/