A joint study by the Sant'Anna School of Advanced Studies in Pisa, the Besta Institute in Milan and other international partners links genetic mutations to brain dysfunctions in dystonia
What role does genetics play in neurological diseases such as dystonia? A study published in the journal Annals of Neurology, coordinated by the Scuola Superiore Sant'Anna in Pisa and the Fondazione IRCCS Istituto Neurologico Carlo Besta in Milan, has linked genetic mutations to brain dysfunction in dystonia, identifying two genetic families that lead to different neural forms of the disease and that may require two distinct treatments.
What is dystonia
Dystonia is a neurological disorder characterised by involuntary muscle contractions that produce abnormal movements or postures, often associated with pain. It affects thousands of people in Italy. The causes, severity and manifestations of dystonia are multiple, so much so that it is correct to speak of dystonic syndromes.
So far, many genes associated with dystonic syndromes have been identified. But how can different genes produce similar motor symptoms?
‘We analysed the neural data of thirty-one dystonic patients with nine distinct genetic profiles, and we discovered that different genes can lead to very similar effects at the level of neuron activity,’ explains Dr Ahmet Kaymak, PhD student in biorobotics at the Scuola Sant'Anna in Pisa and first author of the study.
Current treatments only work on some types of genes
The presence of different genetic types can therefore lead to the same pathology and the same movement disorders. But the Sant'Anna-Besta study also shows other scientific evidence: of these genetic kits, in fact, only those with certain characteristics can be treated with current neurostimulation therapies.
‘We observed that about half of the genes cause very regular neuron activity, and the other half cause very irregular activity. We then realised that the genes for which neurostimulation therapies work all belong to the second group. This suggests to us that the regularity of neuronal activity is one of the keys to the effectiveness of the treatment.’ adds Prof. Alberto Mazzoni of the Sant'Anna School of Advanced Studies in Pisa.
‘The clinical importance of this study lies in the possibility of using this method of analysing the individual characteristics of brain activity for adaptive brain stimulation therapies, increasingly oriented towards personalised care for patients with movement disorders such as dystonia and Parkinson's disease,’ explains Dr. Luigi Romito, Neurologist at the Department of Clinical Neurosciences directed by Prof. Roberto Eleopra of the Carlo Besta Neurological Institute
