Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS

Objectives The identification of bi-allelic intermediate ATXN2 repeat expansions in a pedigree with amyotrophic lateral sclerosis (ALS) through clinical testing prompted us to investigate its relevance in the wider ALS population.Methods ATXN2 repeat size was assessed in a large international cohort...

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Principais autores:	Nicola Ticozzi, Vincenzo Silani, Mamede de Carvalho, Philippe Couratier, Jan Herman Veldink, Leonard H van den Berg, Orla Hardiman, Philip Van Damme, Michael A van Es, Markus Weber, Karen E Morrison, Pamela J Shaw, Ammar Al-Chalabi, Pieter A van Doorn, Peter Andersen, Johnathan Cooper-Knock, Philippe Corcia, Wouter Koole, Emilien Bernard, Wouter van Rheenen, Russell McLaughin, Marc Gotkine, Vivian Drory, Chris Shaw, Claire Guissart, John E Landers, Teresa Salas, Jeroen Hendrikse, Jonathan D Glass, Jan Willem Dankbaar, R Jeroen Pasterkamp, A Nazlı Başak, Clifton L Dalgard, Koen Cedric Demaegd, Joke JFA van Vugt, Philippe Codron, Mónica Povedano Panades, Bart P Warrenburg, Patrick Vourc’h, Yossef Lerner, S Jesus, Mora Pardina
Formato:	Artigo
Idioma:	Inglês
Publicado em:	BMJ Publishing Group 2026-02-01
Colecção:	BMJ Neurology Open
Acesso em linha:	https://neurologyopen.bmj.com/content/8/1/e001417.full
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