View complete transcript
So I'll divide the sessions into initially treatment group and also in the pathophysiology of dystonia.
It was very kind for Dr. Mary Vidaleht to share with us her clinical approach towards the outpatient management of patients with dystonia. She raised the non-motor feature should be highlighted and also screen ed during the outpatient setting. Since patients with dystonia, they have two to three times more common and more prevalent rates of depression, anxiety and lifetime suicidality. So it'll be important for us in our routine clinical practice to screen for these non-motor features and refer and treat early accordingly.
another review that has been introduced in the Congress is by Dr. Steven Tish and Dr. Haw Kuma last year. They published a review on patients with isolated dystonia, and particular genes can predict good DBS outcome.
And so that will change our clinical practice. Genes such as the DYT1 or TOR1a gene and the epsilon-sarcoglycan gene, which is responsible for the myclonus dystonia both of them can predict excellent DBS outcome. And knowing this will be a good tool to introduce to patients for DBS counseling and patient expectations.
Whereas other genes such as x-linked dystonian Parkinsonism after DBS is also expected to have some good outcome as well. So the other genes that have variable outcomes following DBS, but it's been reported in small studies, has been GNAL, KMT2B, ATP1a3 and ANO3 gen e. Whereas poorer and more variable response to DBS has been reported in a SAT1, which is a DYT3 gene mutation.
[00:02:54] Hugo Morales: Thank you for summarizing those important, relevant findings for clinical practice. And is there any innovations or advancements in the treatment of dystonia, particularly with more invasive treatments?
[00:03:10] Florence Chang: Yes, so during the conference there has been highlighted that a MRI focus ultrasound can show some significant benefit in focal hand dystonia patients, so patients with writer's occupational dystonia, such as musicians' dystonia.
However, this study is only across 10 patients or very small numbers, and so further large blinded and SHA control studies are needed to prove the efficacy of MRI focus ultrasound.
So then I'll move on to some Posters and sessions that have highlighted some new discoveries in the pathophysiology of dystonia.
So one post I came across, comes from New Delhi, India, and they looked at patients with isolated familial dystonia. And they did whole exon sequencing on 137 pro band. And they found that the most common mutation was the zap one, which is the d I T six mutation. And this was present in seven out of 137 patients. So around about 1%. So that is quite surprising given initially that one was discovered in the Amish Menonite population in United States. But now we have to think about the Indian patients as well.
Another poster I came across was a pet scan with 18 floral deoxy glucose that was done during global pallidus deep brain stimulation for cervical dystonia dystonia participants. And this found that there was increase in glucose metabolism in the sensory motor cortex and the supplementary motor cortex, and this correlated with dystonia symptom severity.
So this study highlights the way DBS can work through an indirect effect on the sensory motor network through stimulation of the globus palladus, which is a remote node of the sensory motor network.
And Andrea Kuns group in Germany, they looked at Palatal stimulation and how this can induce bradykinesia in dystonia patients treated with DBS. And they found that a low beater band activity correlated with the stimulation induced bradykinesia. And so this could be like a biomarker for this phenomenon, which is similar to Parkinson's disease.
And lastly, philip star group in the United States, they found that the finely tuned gamma oscillation precentral gyrus increase with stimulation amplitude and also change correspondingly with amplitude across activities of daily living in dystonia patients treated with DBS. So this potentially can be used during adaptive DBS protocols in patients with dystonia.
[00:06:22] Hugo Morales: interesting, there's new research and more studies regarding not only the motor, but also non-motor futures and how deep brain stimulation may work and even more specific therapies such as focal, so ultrasound and the effectiveness in these types of patients.
So thank you again Florence for highlights about the research conducted and presented here on the MDS International Congress 2022.
[00:06:54] Florence Chang: Thank you, Hugo for inviting me. It's been my pleasure to do this.