Article Text
Abstract
Ataxia telangiectasia is an autosomal recessive DNA repair disorder characterised by complex neurological symptoms, with an elevated risk of malignancy, immunodeficiency and other systemic complications. Patients with variant ataxia telangiectasia—with some preserved ataxia telangiectasia-mutated (ATM) kinase activity—have a milder and often atypical phenotype, which can lead to long delays in diagnosis. Clinicians need to be aware of the spectrum of clinical presentations of ataxia telangiectasia, especially given the implications for malignancy surveillance and management. Here, we review the phenotypes of ataxia telangiectasia, illustrated with case reports and videos, and discuss its pathological mechanisms, diagnosis and management.
- GENETICS
Statistics from Altmetric.com
Linked Articles
Read the full text or download the PDF:
Other content recommended for you
- DNA repair disorders
- Autosomal recessive cerebellar ataxias: the current state of affairs
- Genotype–phenotype correlations in ataxia telangiectasia patients with ATM c.3576G>A and c.8147T>C mutations
- Ataxia in a young patient
- Ataxia telangiectasia: learning from previous mistakes
- Ataxia telangiectasia: presentation and diagnostic delay
- POG02 Variant ataxia telangiectasia in siblings with normal α-fetoprotein levels
- Expression of ATM, p53, and the MRE11–Rad50–NBS1 complex in myoepithelial cells from benign and malignant proliferations of the breast
- Integration of computer-aided automated analysis algorithms in the development and validation of immunohistochemistry biomarkers in ovarian cancer
- ATM germline variants and male breast cancer