Publications by authors named "M Turcanova-Koprusakova"
Article Synopsis
- Miyoshi myopathy/dysferlinopathy (MMD) is a rare muscle disease linked to mutations in the DYSF gene, which also affects the brain's structure and function, although this impact hasn't been fully studied.
- Using MRI techniques, a family study revealed significant differences in the brain of MMD patients, including an asymmetrical increase in the size of their inferior lateral ventricles and notable decreases in magnesium levels and energy metabolism in brain regions like the hippocampus.
- Following a month of magnesium supplementation, the MMD patients showed improvements, suggesting potential benefits and calling for more research into the brain functions of MMD patients and further testing of magnesium therapy.
Amyotrophic lateral sclerosis is a severe neurodegenerative disease whose exact cause is still unclear. Currently, research attention is turning to the mitochondrion as a critical organelle of energy metabolism. Current knowledge is sufficient to confirm the involvement of the mitochondria in the pathophysiology of the disease, since the mitochondria are involved in many processes in the cell; however, the exact mechanism of involvement is still unclear.
View Article and Find Full Text PDFSafety and efficacy of simple training protocol in patients after mild traumatic brain injury.
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub
November 2024
Aims: Mild Traumatic Brain Injury (mTBI) is the most common type of craniocerebral injury. Proper management appears to be a key factor in preventing post-concussion syndrome. The aim of this prospective study was to evaluate the effect and safety of selected training protocol in patients after mTBI.
View Article and Find Full Text PDFBackground: DYT6 dystonia belongs to a group of isolated, genetically determined, generalized dystonia associated with mutations in the THAP1 gene.
Case Presentation: We present the case of a young patient with DYT6 dystonia associated with a newly discovered c14G>A (p.Cys5Tyr) mutation in the THAP1 gene.