Research from the Sheffield Institute for Translational Neuroscience (SITraN) suggests that routine genetic testing is appropriate for all MND patients and can impact disease subclassification and clinical care.
The new study, published February 15, 2021 in the Journal of Neurology, Neurosurgery and Psychiatry (JNNP), performed targeted genetic sequencing of MND-relevant genes in 100 patients.
The researchers found higher than expected genetic changes in the patient population. The paper recommends that genetic testing could be suitable for all MND patients, whether or not they have a family history of the disease.
Our study found that 42 percent of the patients involved in the screening showed variants of known MND-linked genes. This does not mean that 42 percent of MND cases are familial – it does show that some familial and sporadic cases can have the same genetic cause of the disease.
As future studies increase the number of verified genetic causes of MND, we will continue to examine whether they can be found in cases with no family history.
Prof. Janine Kirby, Professor of Neurogenetics at the University of Sheffield
MND is a complex disease that involves 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 tailored treatments in the future.
Dr. Brian Dickie, director of research development at the Motor Neurone Disease Association
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