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

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Bibliographic Details
Title: Bi-allelic intermediate ATXN2 repeat expansions are associated with slow progressing, leg-onset familial ALS.
Authors: Demaegd KC; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium., Koole W; Department of Genetics, UMC Utrecht, Utrecht, Utrecht, the Netherlands., van Vugt JJ; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., Dankbaar JW; Department of Radiology, UMC Utrecht, Utrecht, the Netherlands., Hendrikse J; Department of Radiology, UMC Utrecht, Utrecht, the Netherlands., Nazlı Başak A; Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory (NDAL), KUTTAM, Koç University School of Medicine, Istanbul, Turkey., de Carvalho M; University of Lisbon, Lisbon, Lisbon, Portugal., Corcia P; Universite de Tours Faculte de Medecine, Tours, Centre-Val de Loire, France., Codron P; Angers University Hospital, Angers, Pays de la Loire, France., Bernard E; Rare Disease Reference Center for ALS (CRMR SLA), Pierre Wertheimer Hospital, Hospices Civils de Lyon, Institut NeuroMyoGène-PGNM, Claude Bernard University, Lyon, France., Guissart C; Montpellier University, Montpellier, Occitanie, France., Couratier P; ALS Centre, Departement of Neurology, CHU Limoges, Limoges, Aquitaine-Limousin-Poitou-Charentes, France., Povedano Panades M; Department of Neurology, Hospital Universitari de Bellvitge, L'Hospitalet de Llobregat, Catalunya, Spain., van Doorn PA; Department of Neurology, Erasmus MC, Rotterdam, the Netherlands., Warrenburg BP; Department of Neurology, Radboudumc, Nijmegen, the Netherlands., Cooper-Knock J; Department of Neurology, Sheffield Institute for Translational Neuroscience (SITraN), Sheffield, South Yorkshire, UK., Pasterkamp RJ; Department of Translational Neuroscience, UMC Utrecht, Utrecht, Utrecht, the Netherlands., van Rheenen W; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., van Damme P; Laboratory of Neurobiology, Department of Neuroscience, KU Leuven, Leuven, Belgium.; Department of Neurology, University Hospitals Leuven, Leuven, Belgium., van den Berg LH; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., Veldink JH; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands., van Es MA; Department of Neurology, UMC Utrecht, Utrecht, the Netherlands.
Corporate Authors: ALS Sequencing Consortium, Project MinE PI’s
Source: BMJ neurology open [BMJ Neurol Open] 2026 Feb 18; Vol. 8 (1), pp. e001417. Date of Electronic Publication: 2026 Feb 18 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 101775450 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-6140 (Electronic) Linking ISSN: 26326140 NLM ISO Abbreviation: BMJ Neurol Open Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:2632-6140
DOI:10.1136/bmjno-2025-001417