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Article

Compound Heterozygous ATM Variants Cause Adolescent-Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family.

Genetics research - 1 Jan 2026

Aslam Faiza, Ji Weizhen, Jeffries Lauren, Wadhwa Anant, Konstantino Monica, Noman Muhammad, Bamford Nigel S, Mis Emily, Lakhani Saquib A, Naz Sadaf

Abstract excerpt

Ataxia-telangiectasia (A-T) is a heterogeneous genetic disorder with a recessive mode of inheritance resulting from biallelic variants in the A-T mutated gene (ATM). Besides ataxia, the disorder involves compromised immunity and an increased risk of malignancies. We recruited a consanguineous Pakistani family with multiple individuals having adolescent-onset ataxia. Phenotyping and clinical testing were completed...

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Identifiers

PMID: 42357988
DOI: 10.1155/genr/5644954
PMCID: PMC13305135

Genes

ATM

Variants

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

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