2018 May;61(5):284-287. doi: 10.1016/j.ejmg.2017.12.012. Epub 2017 Dec 26.

Author information

1
Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands. Electronic address: michiel.schoenaker@radboudumc.nl.
2
Department of Pediatric Neurology, Radboud University Medical Center, Nijmegen, The Netherlands.
3
Department of Pediatrics, Radboudumc Amalia Children's Hospital, and Radboudumc Institute of Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
4
Department of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands.
5
Department of Dermatology, Radboud University Medical Center, Nijmegen, The Netherlands.
6
School of Cancer Sciences, University of Birmingham, Birmingham, UK.

Abstract

Ataxia Telangiectasia (AT) is named after the two key clinical features that characterize its classical phenotype, namely a progressive cerebellar gait disorder (ataxia) and vascular anomalies (telangiectasias) visible in the conjunctivae and skin. AT is an autosomal recessively inherited disorder, caused by mutations in the ATM gene that encodes the ATM protein. While the ataxia is subject of many publications, the telangiectasias are under emphasised. We here describe the observation that the absence or presence of ATM protein and the level of residual ATM kinase activity are related to the occurrence of telangiectasias and describe the clinical consequences of these vascular malformations. Finally, we hypothesize that ATM dysfunction dysregulates angiogenesis.

PMID:
 
29288088
 
DOI:
 
10.1016/j.ejmg.2017.12.012
[Indexed for MEDLINE]