Early-Life Social Determinants of SCA6 Age at Onset, Severity, and Progression.

Autor: Chen TX; Department of Neurology, Columbia University Medical Center, New York, NY, USA.; Initiative of Columbia Ataxia and Tremor, Columbia University Medical Center, New York, NY, USA.; Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA., Casey HL; Department of Neurology, University of Chicago, Chicago, IL, USA., Lin CR; Department of Neurology, Baylor College of Medicine, Houston, TX, USA., Boyle TA; Department of Pathology and Cell Biology, University of South Florida, Tampa, FL, USA., Schmahmann JD; Department of Neurology, Massachusetts General Hospital, Ataxia Unit, Cognitive Behavioral Neurology Unit, Laboratory for Neuroanatomy and Cerebellar Neurobiology, Harvard Medical School, Boston, MA, USA., L'Italien GJ; Global Health Outcomes and Epidemiology, Biohaven Pharmaceuticals, New Haven, CT, USA., Kuo SH; Department of Neurology, Columbia University Medical Center, New York, NY, USA. sk3295@columbia.edu.; Initiative of Columbia Ataxia and Tremor, Columbia University Medical Center, New York, NY, USA. sk3295@columbia.edu., Gomez CM; Department of Neurology, University of Chicago, Chicago, IL, USA. cgomez@neurology.bsd.uchicago.edu.
Jazyk: angličtina
Zdroj: Cerebellum (London, England) [Cerebellum] 2024 Aug; Vol. 23 (4), pp. 1449-1456. Date of Electronic Publication: 2024 Jan 13.
DOI: 10.1007/s12311-023-01655-w
Abstrakt: SCA6 patients with the same size CAG repeat allele can vary significantly in age at onset (AAO) and clinical progression. The specific external factors affecting SCA6 have yet to be investigated. We assessed the effect of early life events on AAO, severity, and progression in SCA6 patients using a social determinant of health approach. We performed a survey of biological and social factors in SCA6 patients enrolled in the SCA6 Network at the University of Chicago. AAO of ataxia symptoms and patient-reported outcome measure (PROM) of ataxia were used as primary outcome measures. Least absolute shrinkage and selection operation (LASSO) regressions were used to identify which early life factors are predictive of SCA6 AAO, severity, and progression. Multiple linear regression models were then used to assess the degree to which these determinants influence SCA6 health outcomes. A total of 105 participants with genetically confirmed SCA6 completed the assessments. SCA6 participants with maternal difficulty during pregnancy, active participation in school sports, and/or longer CAG repeats were determined to have earlier AAO. We found a 13.44-year earlier AAO for those with maternal difficulty in pregnancy than those without (p = 0.008) and a 12.31-year earlier AAO for those active in school sports than those who were not (p < 0.001). Higher education attainment was associated with decreased SCA6 severity and slower progression. Early life biological and social factors can have a strong influence on the SCA6 disease course, indicating that non-genetic factors can contribute significantly to SCA6 health outcomes.
(© 2024. The Author(s).)
Databáze: MEDLINE
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