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Article

Unique Ataxia-Oculomotor Apraxia 2 (AOA2) in Israel with Novel Variants, Atypical Late Presentation, and Possible Identification of a Poison Exon.

Journal of molecular neuroscience : MN - 1 Aug 2022

Ponger Penina, Kurolap Alina, Lerer Israela, Dagan Judith, Chai Gadot Chofit, Mory Adi, Wilnai Yael, Oniashvili Nino, Giladi Nir, Gurevich Tanya, Meiner Vardiella, Lossos Alexander, Baris Feldman Hagit

Abstract excerpt

AOA2 is a rare progressive adolescent-onset disease characterised by cerebellar vermis atrophy, peripheral neuropathy and elevated serum alpha-fetoprotein (AFP) caused by pathogenic bi-allelic variants in SETX, encoding senataxin, involved in DNA repair and RNA maturation. Sanger sequencing of genomic DNA, co-segregation and oxidative stress functional studies were performed in Family 1. Trio whole-exome...

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PMID: 35676594
DOI: 10.1007/s12031-022-02035-5

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