A rare ATM variant in a Colombian family with chorea-ataxia syndrome: implications for an early diagnosis.

NeurogeneticsSep 24, 2026 (epub)
Case ReportMedical GeneticsOncology (Medical)Open access

Viviana A Martínez-Villota, Malco Rossi, Lucely Ortega-Bolaños

✦ AI-curated · Sources linked

Case in brief

A 39-year-old man presented with progressive ataxia, chorea, and telangiectasias, alongside two siblings with similar symptoms. Genetic testing revealed compound heterozygous variants in the ATM gene. One sibling developed gastric adenocarcinoma and melanoma, while another succumbed to ovarian and colon cancer. The case highlights the importance of recognizing variant ATX-ATM for early diagnosis and management.

Diagnostic / clinical pearl

Clinicians should consider variant ATX-ATM in patients with atypical movement disorders and a family history of malignancies, as early diagnosis can guide oncologic surveillance.

Why it matters

This case underscores the phenotypic variability of ATM variants and the critical need for genetic counseling and monitoring in affected families.

Source

PubMed · PMID 42782344Free full text on PubMed Central

Published in Neurogenetics. This summary was written by xxcode from the publication's abstract and metadata. It is not peer reviewed and is not a substitute for the original article. For clinical decisions, review the original publication.

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