Blepharoclonus – a novel phenotypic association with a VAC14 variant
•Blepharoclonus is defined as a brief clonic contraction of bilateral orbicularis oculi muscles on voluntary eye closure.•NBIA disorders like PKAN, PLAN and Kufor Rakeb disease have shown its association with blepharoclonus.•With this report, <i>VAC14</i> can also be added to the phenotype spectrum.
Authors
- Madhavi Karri (ORCID: https://orcid.org/0000-0003-1886-2955)
Institutions
- Hyderabad Rheumatology Center (IN)
- Yashoda Hospital (IN)
Publication Details
- Journal
- Clinical Parkinsonism & Related Disorders
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.prdoa.2025.100386
- Primary Topic
- Glycogen Storage Diseases and Myoclonus
- Type
- article
- Field-Weighted Citation Impact
- 0.00