Identification of clinically recognizable subtypes of ataxia telangiectasia

12 December 2018

In their latest publication in Neurology, Bart van de Warrenburg and Nienke van Os have identified clinically recognizable subtypes within milder forms of ataxia telangiectasia.

Together with Michèl Willemsen and others, Nienke van Os and Bart van de Warrenburg were able to study own and previously reported patients with milder forms of ataxia telangiectasia (AT). AT is a severe multisystem disease that leads to various neurological deficits, typically ataxia and other movement disorders, as well as to systemic complications such as malignancies and infections. In addition to the classic, early-onset, severely progressive disease, there are patients who present with milder forms of AT. They have for example a later age at onset, slower progression, or a different neurological phenotype. These milder forms are, however, more difficult to recognize and this causes diagnostic delay. As patients with these milder forms are also prone to develop malignancies, such a delay may have serious consequences. By carefully studying the data of a large cohort of mild AT patients, the researchers discovered six discernible trajectories of neurological manifestations in this cohort. This knowledge will help earlier recognition and timely diagnosis of patients with this severe condition. 

Publication:
Trajectories of motor abnormalities in milder phenotypes of ataxia telangiectasia.
Van Os NJH, Hensiek A, van Gaalen J, Taylor AMR, van Deuren M, Weemaes CMR, Willemsen MAAP, van de Warrenburg BPC.

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