Yevgen Trufanov
5
Yevgen Trufanov
5
Yevgen Trufanov
1
The poster is not in English.
Is this allowed by the rules of the IAPRD??? NO
https://www.iaprd-world-congress.com/iaprd-2025/abstract-submission/#:~:text=Applications%20can%20only%20be%20made,a%20proof%20of%20trainee%20status.
Yevgen Trufanov
2
There are several errors in the abstract. For example:
Title: "SLEEP ASSESSMENT IN PARKINSON'S DISEASE"
Methods: "Group 1: 90 patients with Parkinson's syndrome"
Marcela Montiel
2
GTPCH1 cyclohydrolase mutations are not expansions (missense, deletions, etc). Probably Typo on the disease duration. The patients are most likely treated with levodopa which increases the level of homocysteine. Methods are not clear (e.g.: control group mentioned in the results). I believe the idea is interesting but the full oral presentation should clarify many points.
Marcela Montiel
3
Marcela Montiel
4
During the oral presentation they should explain what they mean by wrong outcome in 23 reports excluded.
Marcela Montiel
3
The concept is interesting. There are many factors that can interfere in the results. We do not know how patient selection was done.
Marcela Montiel
1
This was already published by the same group/authors in 2016. Also, the patients already had motor symptoms (clumsiness, ataxia??) at onset. Dystonia is not the only movement disorder to consider.
Marcela Montiel
3
The improvement after DBS should be described with a motor rating scale too and further description on the evolution in time.
Marcela Montiel
3
It would be good to explain the patient selection (consecutive?)
Marcela Montiel
4
This is a very good debate topic and helps understand the current situation in many places around the world.
Marcela Montiel
3
Dyt-AOPEP should be used instead of Dyt31
Yevgen Trufanov
4
"worry" (50.3%)
Maybe anxiety?
Yevgen Trufanov
5
No video has been attached.
Yevgen Trufanov
4
Marcela Montiel
3
It would be good to add the brain MRI (stroke?), and a better description of the result after surgery (scale? initial relief means that it did not last long or that it was a recent procedure?)
Yevgen Trufanov
2
The methods were not described.
If this is a review, there should be a list of references.
Marcela Montiel
4
It is always good to rate the improvement with a dystonia scale. Good case to gain experience in DBS for this particular mutation.
Marcela Montiel
3
The topis is very interesting. The results are not clearly explained and not clearly significant. No statistical analysis explained and a high percentage of patients with an 'unknown' result. It is also strange that some patients had a post menopause age at the moment of the survey. If some patients were receiving exogenous estrogen the interpretation is even more confusing.
Marcela Montiel
3
Marcela Montiel
4
Marcela Montiel
4
Marcela Montiel
2
It is described as a the typical phenotype of a pediatric patient with an ADCY5-related disorder, and the same is showed in the video. The presentation is not an episodic ataxia. I don't think this is expanding the phenotype previously described by many groups.
Marcela Montiel
3