Publications by authors named "Gazelle Zerafati-Jahromi"
Aim: To determine the movement features governing expert assessment of gait dystonia severity in individuals with cerebral palsy (CP).
Method: In this prospective cohort study, three movement disorder neurologists graded lower extremity dystonia severity in gait videos of individuals with CP using a 10-point Likert-like scale. Using conventional content analysis, we determined the features experts cited when grading dystonia severity.
Article Synopsis
- Multiple mitochondrial enzymes rely on lipoic acid, and mutations in the LIAS gene, which produces lipoic acid synthase, can lead to a serious disorder known as LIAS-related disorder, characterized by severe developmental and neurological issues in infants.
- A case study of a 20-year-old woman with developmental delays and seizures revealed two novel mutations in LIAS, with one causing a severe loss of protein function.
- Functional analysis in yeast confirmed that the p.Asp181Val mutation resulted in poor growth, similar to other known pathogenic variants, thereby demonstrating the potential of yeast models for studying LIAS mutations and their effects.