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ATXN1 repeat expansions confer risk for amyotrophic lateral sclerosis and contribute to TDP-43 mislocalization

Brain Communications2020Vol. 2(2), pp. fcaa064–fcaa064

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Gijs H P Tazelaar, Steven Boeynaems, Mathias De Decker, Joke J.F.A. van Vugt, Lindy Kool, H. Stephan Goedee, Russell L. McLaughlin, William Sproviero, Alfredo Iacoangeli, Matthieu Moisse, Maarten Jacquemyn, Dirk Daelemans, Annelot M Dekker, Rick A van der Spek, Henk‐Jan Westeneng, Kevin P. Kenna, Abdelilah Assialioui, Nica Da Silva, Fulya Akçimen, Ahmad Al Khleifat, Ammar Al‐Chalabi, Peter Andersen, A Nazli Basak, Denis C. Bauer, Ian P. Blair, William J Brands, Ross P. Byrne, Andrea Calvo, Yolanda Campos, Adriano Chiò, Jonothan Cooper-Knock, Philippe Corcia, Philippe Couratier, Mamede de Carvalho, Annelot M Dekker, Vivian E. Drory, Chen Eitan, Alberto García‐Redondo, Cinzia Gellera, Jonathan D. Glass, Marc Gotkine, Orla Hardiman, Eran Hornstein, Alfredo Iacoangeli, Kevin P. Kenna, Brandon Kenna, Matthew C Kiernan, Cemile Kocoglu, Maarten Kooyman, John E Landers, Victoria López-Alonso, Russell L. McLaughlin, Bas Middelkoop, Jonathan Mill, Miguel Mitne‐Neto, Matthieu Moisse, Jesus S Mora Pardina, Karen Morrison, Susana Pinto, Marta Gromicho, Mónica Povedano Panadés, Sara L. Pulit, Antonia Ratti, Wim Robberecht, Raymond D. Schellevis, Aleksey Shatunov, Christopher E. Shaw, Pamela J. Shaw, Vincenzo Silani, William Sproviero, Christine Staiger, Gijs H P Tazelaar, Nicola Ticozzi, Ceren Tunca, Nathalie A Twine, Philip Van Damme, Leonard H van den Berg, Rick A van der Spek, Perry T.C. van Doormaal, Kristel R. van Eijk, Michael A van Es, Wouter van Rheenen, Joke J.F.A. van Vugt, Jan H. Veldink, Peter M. Visscher, Patrick Vourc’h, Markus Weber, Kelly L. Williams, Naomi R. Wray, Jian Yang, Mayana Zatz, Katharine Zhang, Mónica Povedano, Jesus S Mora Pardina, Orla Hardiman, François Salachas, Stéphanie Millecamps, Patrick Vourc’h, Philippe Corcia, Philippe Couratier, Karen Morrison, Pamela J. Shaw, Christopher E. Shaw, R. Jeroen Pasterkamp, John E Landers, Ludo Van Den Bosch, Wim Robberecht, Ammar Al‐Chalabi, Leonard H van den Berg, Philip Van Damme, Jan H. Veldink, Michael A. van Es

Abstract

Increasingly, repeat expansions are being identified as part of the complex genetic architecture of amyotrophic lateral sclerosis. To date, several repeat expansions have been genetically associated with the disease: intronic repeat expansions in C9orf72, polyglutamine expansions in ATXN2 and polyalanine expansions in NIPA1. Together with previously published data, the identification of an amyotrophic lateral sclerosis patient with a family history of spinocerebellar ataxia type 1, caused by polyglutamine expansions in ATXN1, suggested a similar disease association for the repeat expansion in ATXN1. We, therefore, performed a large-scale international study in 11 700 individuals, in which we showed a significant association between intermediate ATXN1 repeat expansions and amyotrophic lateral sclerosis (P = 3.33 × 10-7). Subsequent functional experiments have shown that ATXN1 reduces the nucleocytoplasmic ratio of TDP-43 and enhances amyotrophic lateral sclerosis phenotypes in Drosophila, further emphasizing the role of polyglutamine repeat expansions in the pathophysiology of amyotrophic lateral sclerosis.

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