MODULE 2
SCA27B
SCA27B
SCA27B (spinocerebellar ataxia type 27B) is a genetic condition that was just recently discovered and described in 2023. Two groups of researchers (papers shown below) found that a specific type of variant in the FGF14 gene was found in a significant number of people with late-onset cerebellar ataxia.
Research studies about the discovery of SCA27B
Pellerin, D., Danzi, M.C., Wilke, C., Renaud, M., Fazal, S., Dicaire, M.J., ... & Brais, B. (2023). Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia. New England Journal of Medicine, 388(2), 128-141.
Rafehi, H., Read, J., Szmulewicz, D.J., Davies, K.C., Snell, P., Fearnley, L.G., ... & Lockhart, P.J. (2023). An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA50/ATX-FGF14. American Journal of Human Genetics, 110(1), 105-119. https://doi.org/10.1016/j.ajhg.2022.11.015
