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.
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
Hans van Bokhoven newly elected in Academia Europaea22 August 2019
The Academia Europaea is a functioning European Academy of Humanities, Letters and Sciences, composed of individual members.read more
Drug-induced interstitial lung disease in advanced breast cancer patients receiving everolimus22 August 2019
In Targeted Oncology, Annelieke Willemsen, Carla van Herpen and colleagues, showed that pulmonary function test with diffusion capacity of the lungs for carbon monoxide and serum biomarkers can be of aid to differentiate everolimus-related interstitial lung disease from other respiratory problems.read more
Publication in PNAS on dissecting EEC syndrome using single-cell RNA-seq22 August 2019
PhD candidates Eduardo Soares and Quan Xu in Jo Huiqing Zhou’s group in Molecular Developmental Biology, theme Reconstruction and regenerative medicine, have published a paper in PNAS on the disease mechanism of EEC syndrome using single-cell RNA-seq technology and patient-derived iPSCs.read more
Patient trust and participation in cell biological research21 August 2019
Alessandra Cambi and Gert Olthuis, discuss key ethical issues inherent in the development and the value of building trust and trustworthiness.read more
NWO grant for a tissue-generating patch to close diaphragmatic defects21 August 2019
Willeke Daamen and Toin van Kuppevelt, theme Reconstructive and regenerative medicine, were recently awarded a 690 k€ grant by NWO, domain Applied & Engineering Sciences, for the development of advanced patches for closure of diaphragmatic defects in children with congenital diaphragmatic hernia.read more
Front cover Human Mutation21 August 2019
The MetaDome web server build to interpret genetic variants based on genetic tolerance and homologous protein domains is featured on the Cover of Human Mutation. MetaDome was developed by Laurens van de Wiel, Coos Baakman, Daan Gilissen, Joris Veltman, Gert Vriend and Christian Gilissen,read more