Abstract Details

Title Early-life social determinants of SCA6 age at onset, severity, and progression

Topic Movement Disorders

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

Poster/Presentation
Number 5-005

Objective To assess the effect of early life conditions and events on age at onset (AAO), severity, and progression in SCA6 patients.

Background Caused by pathologically expanded CAG repeats in the CACNA1A gene, SCA6 AAO and clinical progression can vary significantly between individuals with the same size CAG repeat allele. Although this indicates that non-genetic factors can influence the disease course, the impact of these external factors is poorly understood.

Design/Methods We performed a survey of social factors in SCA6 patients enrolled at the University of Chicago through consecutive sampling. AAO of ataxia symptoms and Patient-Reported Outcome Measure (PROM) of Ataxia were used as primary outcome measures. Using least absolute shrinkage and selection operation (LASSO) regression, we identified which early life factors are predictive of SCA6 AAO, severity, and progression. We then created multiple linear regression models to assess the degree to which these determinants influence SCA6 health outcomes.

Results A total of 105 participants with SCA6 completed the assessments. Maternal difficulty during pregnancy and participation in school sports were found to be predictive of AAO in addition to pathological CAG repeat length. We found a 12.76 year earlier AAO for those with maternal difficulty in pregnancy than those who did not (p = 0.022), and a 16.36 year earlier AAO for those active in school sports than those who were not (p <0.001). Higher education attainment was found to be associated with decreased SCA6 severity and slower progression. Compared to those with only primary education, those receiving post-secondary education were determined to have a 43.64 lower PROM-Ataxia score (p <0.001) and a slower rate of ataxia progression by 3.23 PROM-Ataxia score per year (p <0.001).

Conclusions Early life biological, behavioral, and social factors can have a strong influence on the SCA6 disease course and may contribute to the disease course of other monogenetic disorders.

Authors/Disclosures
Tiffany Chen PRESENTER	Tiffany Chen has nothing to disclose.
	No disclosure on file
Chi-Ying (Roy) Lin, MD, FAAN (Baylor College of Medicine)	Dr. Lin has received research support from Texas Alzheimer's Research and Care Consortium (TARCC). Dr. Lin has received research support from CurePSP. Dr. Lin has received research support from Mike Hogg Fund. Dr. Lin has received research support from The Michael J. Fox Foundation Parkinson's Progression Markers Initiative (PPMI). Dr. Lin has a non-compensated relationship as a Secretary with Broadway for Ataxia Foundation (a 501 (c) (3) non-profit organization) that is relevant to AAN interests or activities.
	No disclosure on file
Jeremy D. Schmahmann, MD, FAAN (Massachusettes General Hospital)	Dr. Schmahmann has received personal compensation in the range of $10,000-$49,999 for serving as a Consultant for Biohaven. The institution of Dr. Schmahmann has received research support from National Ataxia Foundation. The institution of Dr. Schmahmann has received research support from Biohaven. Dr. Schmahmann has received intellectual property interests from a discovery or technology relating to health care. Dr. Schmahmann has received publishing royalties from a publication relating to health care. Dr. Schmahmann has received publishing royalties from a publication relating to health care. Dr. Schmahmann has received publishing royalties from a publication relating to health care.
Gilbert J. L'Italien	Gilbert J. L'Italien has received personal compensation for serving as an employee of Biohaven Pharmaceuticals. Gilbert J. L'Italien has stock in biohaven pharmaceuticals.
Sheng-Han Kuo, MD, FAAN (Columbia University)	Dr. Kuo has nothing to disclose.
Christopher Gomez, MD, PhD (University of Chicago)	Dr. Gomez has received personal compensation in the range of $5,000-$9,999 for serving on a Speakers Bureau for Biogen. The institution of Dr. Gomez has received research support from Nih.

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