Abstract Details

Title Progressive Ataxia and Palatal Tremor with MRI Evidence of Hypertrophic Olivary Degeneration

Topic Movement Disorders

Presentation(s) P18 - Poster Session 18 (5:30 PM-6:30 PM)

Poster/Presentation
Number 5-005

Background PAPT is a clinical syndrome characterized by mid- to late-adulthood onset of ataxia and palatal tremor due to a lesion at any point in the Mollaret Triangle, which is delimited by three tracts: olivocerebellar tract connecting the inferior olivary nucleus to the contralateral dentate nucleus, dentatorubral tract connecting the dentate nucleus to the contralateral red nucleus, and central tegmental tract connecting the red nucleus to the ipsilateral inferior olivary nucleus. PAPT may be idiopathic or secondary to insults such as stroke, tumor, infection, demyelination, and metronidazole toxicity. Some genetic conditions have been associated with PAPT, such as GFAP mutations associated with adult-onset Alexander disease, Cerebrotendinous Xanthomatosis, Spinocerebellar Ataxia Type 20 (SCA20), and POLG gene mutations.

Objective To report a case of progressive ataxia and palatal tremor (PAPT) in a patient with hypertrophic olivary degeneration (HOD) on Brain MRI and suspected family history.

Design/Methods

A 54-year-old male was in his usual state of health until age 50 when he developed persistent voice tremor. A year later, he developed balance impairment, which has progressively worsened. He denies alcohol and drug use. His mother has head and hand tremor and balance impairment, and a maternal uncle also has hand tremor. The patient currently has upbeat nystagmus, palatal tremor, dysarthria, scanning speech, dysmetria, and wide-based gait with inability to tandem. The patient was diagnosed with PAPT.

Results Ancillary examinations included MRI Brain with and without contrast which revealed hypertrophy and symmetric increased FLAIR and T2 signal intensity in bilateral inferior olivary nuclei, suggestive of hypertrophic olivary degeneration, and cerebellar vermian atrophy. There was no abnormal enhancement. Diffusion tensor imaging and laboratory testing are pending.

Conclusions

We have identified a patient with an unusual clinical syndrome of PAPT and corresponding imaging findings on Brain MRI, in addition to a family history which raises the possibility of a genetic etiology.

Authors/Disclosures
Jennifer Hislop, MD PRESENTER	Dr. Hislop has nothing to disclose.
	No disclosure on file
Henry P. Moore, MD (University of Miami - Miller School of Medicine)	Dr. Moore has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Abbvie. Dr. Moore has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Ipsen Pharma. The institution of Dr. Moore has received research support from Sage Therapeutics. The institution of Dr. Moore has received research support from Bukwang Pharmaceutical. The institution of Dr. Moore has received research support from Neurocrine. The institution of Dr. Moore has received research support from CDHI Foundation. The institution of Dr. Moore has received research support from MODUS Outcomes LLC.