Zhongbo Chen, Emil K Gustavsson, Hannah Macpherson, Claire Anderson, Chris Clarkson, Clarissa Rocca, Eleanor Self, Pilar Alvarez Jerez, Annarita Scardamaglia, David Pellerin, Kylie Montgomery, Jasmaine Lee, Delia Gagliardi, Huihui Luo, John Hardy, James Polke, Andrew B Singleton, Cornelis Blauwendraat, Katherine D Mathews, Arianna Tucci, Ying-Hui Fu, Henry Houlden, Mina Ryten, Louis J Ptáček
BACKGROUND: Spinocerebellar ataxia type 4 (SCA4) is an autosomal dominant ataxia with invariable sensory neuropathy originally described in a family with Swedish ancestry residing in Utah more than 25 years ago. Despite tight linkage to the 16q22 region, the molecular diagnosis has since remained elusive. OBJECTIVES: Inspired by pathogenic structural variation implicated in other 16q-ataxias with linkage to the same locus, we revisited the index SCA4 cases from the Utah family using novel technologies to investigate structural variation within the candidate region...
January 10, 2024: Movement Disorders: Official Journal of the Movement Disorder Society