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Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM.

Movement disorders clinical practice - 1 Feb 2026

Novis Luiz Eduardo, Gouvea Luane Abdalla, Silva Thiago Yoshinaga Tonholo, Raslan Ivana Rocha, Lago Carolina Sanchez Aranda, Barreto Talita Lemos Neves, de Souza Luma Cardoso Gurgel, Barsottini Orlando Graziani Povoas, Pedroso José Luiz

Abstract excerpt

BACKGROUND: Ataxia-telangiectasia (AT) is a rare neurodegenerative disorder caused by biallelic ATM gene mutations. While most patients exhibit classical features-progressive ataxia, oculocutaneous telangiectasia, and oculomotor apraxia-atypical presentations and overlapping phenotypes with AT-like disorders pose diagnostic challenges. OBJECTIVES: To describe clinical and genetic findings in patients with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41186975
DOI: 10.1002/mdc3.70418
PMCID: PMC12911453

Genes

ATM
PCNA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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Molecular Analysis through Whole Exome Sequencing in Ataxia Telangiectasia Patients: Beyond ATM.PMID 41186975Read ↗

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