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Genetic characterisation of ATXN2 in Australian amyotrophic lateral sclerosis

Large expansions of a trinucleotide repeat encoding a polyglutamine tract in ATXN2 are a known cause of spinocerebellar ataxia 2, and intermediate length expansions in this gene have been reported as a risk factor and phenotypic modifier for amyotrophic lateral sclerosis (ALS). Here we present a com...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Sharlynn S.L. Wu, Emily P. McCann, Sandrine Chan Moi Fat, Natalie Grima, Lyndal Henden, Liam G. Fearnley, Patrick Chiu, Kelly L. Williams, Dominic B. Rowe, Garth A. Nicholson, Matthew C. Kiernan, Ian P. Blair, Shu Yang, Jennifer A. Fifita
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2026-03-01
Schriftenreihe:Brain Disorders
Schlagworte:
Polyglutamine
Intermediate repeat expansions
Ataxin-2
ALS
Disease duration
Interruption
Online-Zugang:http://www.sciencedirect.com/science/article/pii/S2666459325001192
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