Article
A New Case Series Suggests That SCA48 (ATX/STUB1) Is Primarily a Monogenic Disorder.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2024
van Prooije Teije H, Pennings Maartje, Dorresteijn Lucille, Gardeitchik Thatjana, Odekerken Vincent J J, Oosterloo Mayke, Pedersen Annie, Verschuuren-Bemelmans Corien C, Vrancken Alexander, Kamsteeg Erik-Jan, van de Warrenburg Bart P C
Abstract excerpt
BACKGROUND: Monoallelic, pathogenic STUB1 variants cause autosomal dominant cerebellar ataxia (ATX-STUB1/SCA48). Recently, a genetic interaction between STUB1 variants and intermediate or high-normal CAG/CAA repeats in TBP was suggested, indicating digenic inheritance or a disease-modifying role for TBP expansions. OBJECTIVE: To determine the presence and impact of intermediate or high-normal TBP expansions in...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.