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.

Related news items


Laurens Verscheijden awarded doctorate degree 'cum laude'

19 January 2022

Laurens Verscheijden of the Department of Pharmacology and Toxicology, defended his PhD thesis, entitled "Mechanistic models for the prediction of brain drug exposure and response in the paediatric population: A virtual child reaching maturation.

read more

Aerobe exercise has a positive effect on brain function in Parkinson's disease patients

18 January 2022

Radboudumc researchers have shown that the brain function of patients with Parkinson's disease improved with regular exercise, which seems to strengthen the connections between different brain areas, while inhibiting brain shrinkage.

read more

Last call for nominations for the RIHS Awards 2021 Deadline for submission is 25 January 2022

18 January 2022

RIHS researchers are invited to propose candidates for the RIHS PhD Award, the Societal Impact Award, the Science Award, the Supervisor of the Year Award, and the RIHS Patient Involvement Award.

read more

Cause of male infertility already present in DNA before birth

17 January 2022

New mutations in DNA, which are not inherited from the father or mother but arise spontaneously before or during fertilization, can cause infertility in men.

read more

Rogier Kievit and Geert Litjens both receive ERC Starting Grant of 1.5 million euros Board of Directors congratulates researchers on top grant

13 January 2022

Researchers Rogier Kievit and Geert Litjens were today festively welcomed by the Board of Directors, because of the ERC Starting Grants they both received. With these European top grants, they can each design an ambitious research project and put together their own research group.

read more

Improved AI will boost cancer research and cancer care Geert Litjens receives ERC Starting Grant

13 January 2022

Geert Litjens from Radboud university medical center has received a European Research Council (ERC) Starting Grant.

read more