Article
Missense mutation in ATXN2 gene (c.2860C > T) in an amyotrophic lateral sclerosis patient with aggressive disease phenotype.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Oct 2022
Ghezzi Andrea, Martinelli Ilaria, Carra Serena, Mediani Laura, Zucchi Elisabetta, Simonini Cecilia, Gianferrari Giulia, Fini Nicola, Cereda Cristina, Gellera Cinzia, Pensato Viviana, Mandrioli Jessica
Abstract excerpt
BACKGROUND: ALS symptoms have been previously described only in the context of ATXN2 CAG expansions, whereas missense mutations of the gene have never been described in ALS patients. CASE PRESENTATION: We identified a novel missense mutation (c.2860C > T) of ATXN2, for which in silico analysis showed a possible pathogenic effect on protein expression, in a patient presenting an aggressive disease phenotype....
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