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THAP1 Associated Dystonia: An NBIA Mimic.
- Source :
-
Movement Disorders Clinical Practice . Dec2023, Vol. 10 Issue 12, p1815-1817. 3p. - Publication Year :
- 2023
-
Abstract
- This article discusses a case study of a 12-year-old boy with THAP1-associated dystonia, a condition that mimics neurodegeneration with brain iron accumulation (NBIA). The boy presented with childhood onset, generalized dystonia that progressively worsened over time. Neurological examination revealed dystonia involving various body regions, along with bradykinesia and rigidity. Magnetic resonance imaging (MRI) showed hypointensity in the bilateral globus pallidi, a finding typically associated with NBIA. However, genetic testing revealed a pathogenic mutation in the THAP1 gene, confirming the diagnosis of DYT6 dystonia. Treatment with levodopa and other medications resulted in mild improvement. This case adds to the evidence that DYT-THAP1 should be considered as a mimic of NBIA. [Extracted from the article]
- Subjects :
- *DYSTONIA
*MAGNETIC resonance imaging
*IRON
*GENETIC testing
Subjects
Details
- Language :
- English
- ISSN :
- 23301619
- Volume :
- 10
- Issue :
- 12
- Database :
- Academic Search Index
- Journal :
- Movement Disorders Clinical Practice
- Publication Type :
- Academic Journal
- Accession number :
- 174180825
- Full Text :
- https://doi.org/10.1002/mdc3.13902