Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion.

doi:10.3390/ijms27031546

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Article

Preimplantation Genetic Testing of Spinocerebellar Ataxia Type 2-Robust Tools for Direct and Indirect Detection of the ATXN2 CAG Repeat Expansion.

International journal of molecular sciences - 4 Feb 2026

Asherah Nur, Lian Mulias, Tan Arnold S, Taguchi Riho, Chua Pengyian, Liu Shuling, Lee Caroline G, Chong Samuel S

Abstract excerpt

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disorder caused by a pathogenic CAG trinucleotide repeat expansion in the ATXN2 gene. At-risk couples can embark on unaffected pregnancies through preimplantation genetic testing of monogenic disorders (PGT-M) of SCA2, which should involve accurate repeat expansion detection together with risk haplotype tracking using informative...

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PMID: 41683965
DOI: 10.3390/ijms27031546
PMCID: PMC12898808

Genes

ATXN2

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