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Abstract Details

Rapid-Onset Dystonia-Parkinsonism Presenting as Tremor-Dominant Parkinson's Disease
Movement Disorders
P04 - (-)
161
BACKGROUND: RDP is caused by mutations of the ATP1A3 gene which encodes the ?3 subunit of Na+ /K+ ATPase. The most common presentation of RPD is rostrocaudal onset of levodopa-unresponsive limb dystonia, bradykinesia, postural instability, and bulbar dysfunction which develop within hours or days of a physiologic trigger, such as stress, physical exertion, or alcohol consumption. Rest tremor is not typical.
DESIGN/METHODS: We discuss a 61 year old man who presented with rest tremor of his right leg and arm, followed within 2 days by right body dystonia and within 2 months by dysphonia and cervical dystonia. On initial exam he had a UPDRS-III score of 43 with a grade 1 rest tremor in his right arm and leg. His tremor and bradykinesia were subjectively and objectively levodopa-responsive. Blinded review of the patient's videotaped examination by an independent movement disorders expert yielded a diagnosis of idiopathic PD.
RESULTS: Given the patient's rapid symptom progression, he was tested for RDP and found to possess an unreported ATP1A3 mutation. Neuropsychological testing was consistent with our RPD cohort, demonstrating executive function impairment. DTI imaging revealed decreased integrity in cerebellothalamic circuitry, also consistent with our cohort compared to controls.
CONCLUSIONS: Our patient differed from typical RDP in several respects: 1) Presentation with a levodopa-responsive rest tremor characteristic of idiopathic PD, 2) a later age of onset compared to most RDP kindreds, and 3) absence of an identifiable trigger. On database review two other RDP patients also had a rest tremor but did not otherwise display a PD phenotype. We suggest that testing for RDP should be considered more routinely in syndromes which closely resemble idiopathic PD, if the symptoms progress quickly over days to weeks.
Authors/Disclosures
Jessica Tate, MD (Atrium Health Wake Forest Baptist)
PRESENTER 		The institution of Dr. Tate has received research support from Ipsen. The institution of Dr. Tate has received research support from Boston Scientific. The institution of Dr. Tate has received research support from Revance Therapeutics. The institution of Dr. Tate has received research support from CHDI Foundation. The institution of Dr. Tate has received research support from NINDS. The institution of Dr. Tate has received research support from Michael J. Fox Foundation.
Allison Brashear, MD, MBA, FAAN (Univeristy of Buffalo) Dr. Brashear has received personal compensation for serving as an employee of McKnight Brain Res Found. Dr. Brashear has received personal compensation for serving as an employee of American Board of Psychiatry and Neurology. Dr. Brashear has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for ABPN. Dr. Brashear has received personal compensation in the range of $10,000-$49,999 for serving as an officer or member of the Board of Directors for McKnight Brain Research Foundation i. Dr. Brashear has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Care Directions- start up . Dr. Brashear has stock in Caredirections . The institution of Dr. Brashear has received research support from NINDS. Dr. Brashear has received publishing royalties from a publication relating to health care. Dr. Brashear has received personal compensation in the range of $500-$4,999 for serving as a Special government employee and study section reviewer with NIH. Dr. Brashear has received personal compensation in the range of $0-$499 for serving as a Adminstrative board -travel reimbursement with AAMC.
Christopher T. Whitlow, MD (Wake Forest School of Medicine) Dr. Whitlow has nothing to disclose.
Beverly Snively The institution of Beverly Snively has received research support from National Institutes of Health. The institution of Beverly Snively has received research support from Duke Endowment. The institution of Beverly Snively has received research support from Department of Defense. The institution of Beverly Snively has received research support from PCORI.
Laurie J. Ozelius, PhD The institution of Dr. Ozelius has received research support from NIH. Dr. Ozelius has received intellectual property interests from a discovery or technology relating to health care.
Ralf Gold, MD (Neurologische Universitaetsklinik) Dr. Gold has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biogen . Dr. Gold has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis. Dr. Gold has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Roche. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Genzyme. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Bayer Vital. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Eisai Pharamaceuticals. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Biogen. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Roche. Dr. Gold has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for SAGE Publishers. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Novartis. Dr. Gold has received personal compensation in the range of $500-$4,999 for serving as an Expert Witness for Biogen. The institution of Dr. Gold has received research support from Novartis. The institution of Dr. Gold has received research support from Biogen.
No disclosure on file
Mark Stacy, MD (MUSC Department of Neurology) Dr. Stacy has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Biovie. Dr. Stacy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for National Institute of Aging. Dr. Stacy has received personal compensation in the range of $0-$499 for serving on a Scientific Advisory or Data Safety Monitoring board for Dartmouth. Dr. Stacy has received personal compensation in the range of $500-$4,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Movement Disorders Journal.
Ihtsham Haq, MD, FAAN (University of Miami Miller School of Medicine) The institution of Dr. Haq has received research support from NINDS. The institution of Dr. Haq has received research support from the Parkinson's Foundation.