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Published on: September 12, 2020
Tremor in Primary Monogenic Dystonia.
Sanjay Pandey1, Sonali Bhattad2, Shreya Dinesh2
1Department of Neurology, Govind Ballabh Pant Postgraduate Institute of Medical Education and Research, Academic Block, Room No 501, New Delhi, 110002, India. sanjaysgpgi2002@yahoo.co.in.
Tremor is a common dystonia symptom, but prevalence varies. This review found tremor in nine primary monogenic dystonia genes, with DYT-HPCA and DYT-ANO3 showing high prevalence in isolated dystonia.
Area of Science:
- Neurology
- Genetics
- Movement Disorders
Background:
- Tremor is a key feature of dystonia, with reported prevalence varying widely (14-86.67%).
- This variability may stem from different dystonia types studied.
- Understanding tremor in primary monogenic dystonia is crucial for diagnosis and treatment.
Purpose of the Study:
- To review research on tremor prevalence in primary monogenic dystonia.
- To identify specific genes associated with tremor in dystonia.
Main Methods:
- Searched the MDS gene database for research articles on tremor in primary monogenic dystonia.
- Analyzed reported frequencies of tremor across different dystonia genes.
Main Results:
- Tremor was identified in nine primary monogenic dystonia genes (DYT-HPCA, DYT-ANO3, DYT-KCTD17, DYT-THAP1, DYT-PRKRA, DYT-GNAL, DYT-TOR1A, DYT-KMT2B, DYT-SGCE).
- DYT-HPCA and DYT-ANO3 showed the highest tremor prevalence in isolated dystonia.
- DYT-SLC6A3 exhibited the highest tremor prevalence in dystonia parkinsonism.
Conclusions:
- Specific genes are frequently associated with tremor in primary monogenic dystonia.
- Gene identification aids in understanding tremor's role in dystonia phenotypes.
- Further research can refine the understanding of tremor in genetic dystonia subtypes.
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