19 September 2018

Thanks to close cooperation between Bart van de Warrenburg (Neurology) and Erik-Jan Kamsteeg (Genetics) two new genes involved in movement disorders were identified. The genes are relevant for autosomal recessive cerebellar ataxia. They published their findings with their co-workers in Brain and Annals of Neurology.

The genes, previously not associated with human disease, were identified via clinical exome sequencing in patients that visited the Radboudumc expert centre for genetic movement disorders. Mutations in VPS13D were identified in 4 patients and an additional 8 patients were tracked by US and German collaborators.
This gene, which acts within the mitochondrial pathway, is probably a relevant gene for patients with movement disorders. While the Nijmegen patients showed features within the ataxia and spasticity spectrum, a back-to-back publication reported on a series of patients with hyperkinetic movement disorders caused by VPS13D mutations.

Cellular stress

Mutations in the second gene, GDAP2, were identified in a patient with a new ataxia phenotype. A second patient with this rare form of ataxia was found by Belgian partners in the E-rare/H2020 consortium PREPARE. Ilse Eidhof, PhD student in the Drosophila models of brain disorders group led by Annette Schenck, demonstrated that GDAP2 mutations lead to motor defects and reduced lifespan in Drosophila, resembling hallmarks of the human disorder. This work further suggested that GDAP2 pathology may result from altered responses to cellular stress.

Link to full publications:
Mutations in VPS13D lead to a new recessive ataxia with spasticity and mitochondrial defects, Annals of neurology.
GDAP2 mutations implicate susceptibility to cellular stress in a new form of cerebellar ataxia, Brain.
 

Related news items


The Postdoctoral Networking Tour in artificial intelligence

2 July 2020

You are a postdoctoral researcher in the field of artificial intelligence? The Postdoc-NeT-AI offers you the opportunity to participate in one week of on-site visits to leading German universities, research institutes and companies. Apply now to this year's tour until 16 August 2020.

read more

Online conference offers advantages for scientists

2 July 2020

It's not contemporary to fly around the world for every congress. Scientists can also choose the flexi option more environmentally conscious. So the online congress offers advantages, published by Teun Bousema, Estel Colado and Julie Verhoef in De Volkskrant.

read more

Register for Phd courses via gROW What does this mean for you?

2 July 2020

From now on you can arrange everything related to the general RU PhD courses via gROW. Because of this there will be some changes in the registration! What does this mean for you?

read more

Experts on metabolic diseases still an unknown major problem...

1 July 2020

Six Dutch UMCs and a patient association contribute to treating and solving this major, often unknown, problem. Timely detection of metabolic diseases is vital. Therefore, Radboudumc is also part of the consortium “United for Metabolic Diseases”.

read more

Radboud Pluim for Lionne Ekers ambassador for the RIMLS institute

30 June 2020

Lionne Ekers received the Radboudpluim for her special merits for the Radboudumc. She is a born ambassador for our Institute.

read more

Stefan Listl member Lancet Commission on Oral Health

29 June 2020

In recognition of the global public health importance, woeful neglect of oral diseases, and the need for a broader understanding and commitment to global oral health within medicine and global health agendas, The Lancet recently established a Commission on Oral Health.

read more