Research from the Sheffield Institute for Translational Neuroscience (SITraN) suggests that routine genetic testing may be appropriate for all MND patients and could impact disease subclassification and clinical care.

The new study, published 15 February 2021 in the Journal of Neurology, Neurosurgery and Psychiatry (JNNP), performed targeted genetic sequencing of MND-relevant genes on 100 patients.

Researchers found higher than expected genetic changes in the group of patients. The paper recommends that genetic testing could be appropriate for all MND patients whether or not they have a family history of the disease.

Our study found that 42 per cent of patients involved in the screening showed variants in known MND-linked genes. This doesn’t mean that 42 per cent of MND cases are familial - but shows that some familial and sporadic cases can share the same genetic cause of disease.

As future studies expand the number of verified genetic causes of MND, we will continue to see if they are also found in cases without a family history.
Prof Janine Kirby, Professor of Neurogenetics at the University of Sheffield

MND is a complex disease involving a complex mix of genetic and environmental factors. This latest research sheds more light on the genetic component and will hopefully lead to greater availability of genetic testing to aid earlier diagnosis and more tailored treatments in the future. 
Dr Brian Dickie, Director of Research Development at the Motor Neurone Disease Association


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University of Sheffield