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Abstract Details

Longitudinal Assessment of Dystonic Symptoms in Rapid-onset Dystonia-Parkinsonism: Genetic Dystonia Symptoms Vary over Time
Movement Disorders
P8 - Poster Session 8 (5:30 PM-6:30 PM)
3-003
To clarify the temporal progression of symptoms in the rare genetic dystonia, ATP1A3 disease 
The ATP1A3 gene encodes the neuronally ubiquitous α3 subunit of the Na+/K+ ATPase. Mutations cause a variety of neurological phenotypes. Rapid onset dystonia parkinsonism is one of the best characterized: a bulbar-predominant dystonia with rapid symptom onset, often after physiological stress. Although the phenotype has been refined over time, its natural history remains poorly characterized due to its rarity and variability. We aimed to define the evolution of motor and nonmotor symptoms in a cohort of subjects assessed over time.  
Subjects manifested first motor symptoms after 18 months of age and were symptomatic at presentation with confirmed ATP1A3 mutations (n=14). They were evaluated at two timepoints using videotaped standardized personal history questionnaires and neurological scales, inclusive of the Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS).

Among 14 patients with follow-up visits, missing data limited full neurological tracking. Bulbar symptoms persisted universally across visits (n=14). Dystonia, gauged by the BFMDRS (n=12), varied, improving in some while worsening in others (mean change 1.0 ± 14.2, % change +5.9 ± 37.9). No association was observed between initial BFMDRS scores or disease duration and the rate of BFMDRS change. Age of onset was 20.4 ± 8.6 years and time between initial and follow visits was 5. 5 ± 2.9 years. The cohort comprised seven separate ATP1A3 mutations:  too few in each mutation group for comparison on that basis.   
Our analysis revealed enduring bulbar symptoms alongside a variable dystonia trajectory in RDP patients. Neither the initial symptom severity nor the disease duration predicted performance at the return visit. This divergence underscores the complexity of RDP and need for continued exploration of its clinical evolution, and the need for both better biomarkers of disease and natural history characterization before treatments can be effectively assessed. 
Authors/Disclosures
Ihtsham Haq, MD, FAAN (University of Miami Miller School of Medicine)
PRESENTER 		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.
Vicki L. Wheelock, MD (UC Davis Department of Neurology) Dr. Wheelock has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Roche Pharmaceuticals. Dr. Wheelock has received personal compensation in the range of $500-$4,999 for serving as a Consultant for uniQure. Dr. Wheelock has received personal compensation in the range of $500-$4,999 for serving on a Speakers Bureau for PRIME Continuing Medical 好色先生.
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.
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.
Eleonora Napoli, PhD (UC Davis) Dr. Napoli has nothing to disclose.
Kathleen J. Sweadner, PhD (Massachusetts General Hospital and Harvard Medical School) The institution of Dr. Sweadner has received research support from Hope for Annabel, AHC Foundation, and CureAHC. The institution of Dr. Sweadner has received research support from the Chan-Zuckerberg Initiative.
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.