Abstract Details

Title POLG-Related Ataxia and Ophthalmoplegia: A Case Report

Topic Movement Disorders

Presentation(s) P9 - Poster Session 9 (5:30 PM-6:30 PM)

Poster/Presentation
Number 5-008

Objective Not applicable

Background Genetic variants of the POLG gene result in mitochondrial DNA defects and account for a large proportion of mitochondrial diseases. These disorders encompass a spectrum of phenotypes, with onset ranging from infancy to late adulthood. In addition to hepatic dysfunction and myopathy in younger populations, and hormone derangements with cataracts in older patients, patients may also present with prominent neurologic symptoms, including ataxia, parkinsonism, epilepsy, and ophthalmoplegia. More than 300 pathogenic mutations of POLG have been reported and there are no clear genotype-phenotype correlations. Given the rarity of these syndromes and wide range of clinical phenotypes, there is often delay in diagnosis.

Design/Methods Not applicable

Results We present a 47-year old woman with symptoms of difficulty speaking and development of tremor, vision loss, dizziness, and gait difficulty progressing over several months. Initial exam was significant for ataxia and choreiform movements. Extraocular movement (EOM) testing revealed delayed initiation of saccades and slow, saccadic pursuits with nystagmus. Bloodwork, which included extensive workup for causes of chorea and ataxia, electromyography/nerve conduction studies, and imaging (MRI brain and malignancy work-up) were unremarkable. She continued to decline with development of ophthalmoplegia, ptosis, numbness, weakness, and pain, severely limiting her functional capacity. Whole exome sequencing was performed and showed a heterozygous variant of uncertain significance (VUS) in the POLG gene, which may explain her presentation.

Conclusions This case adds to a growing collection of case reports describing the various phenotypes of POLG-related disorders. Early detection of POLG variants and phenotype/genotype characterization may help guide development of future treatments for patients with similar conditions.

Authors/Disclosures
Taylor Peabody, MD PRESENTER	Dr. Peabody has nothing to disclose.
Danielle S. Shpiner, MD	An immediate family member of Dr. Shpiner has received personal compensation for serving as an employee of University of Miami. Dr. Shpiner has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Mission MSA. The institution of Dr. Shpiner has received research support from American Parkinson's Disease Association. The institution of Dr. Shpiner has received research support from CurePSP. The institution of Dr. Shpiner has received research support from Parkinson's Foundation. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Parkinson's Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Medtronic that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Boston Scientific that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbott that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Abbvie that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Ipsen that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Amneal that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Michael J. Fox Foundation that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a CoC Medical Director with CurePSP that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a COE Medical Director with Mission MSA that is relevant to AAN interests or activities. Dr. Shpiner has a non-compensated relationship as a Fellowship Co-Director with Merz that is relevant to AAN interests or activities.

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