Blepharoclonus - a novel phenotypic association with a VAC14 variant
Karri Madhavi1, Rukmini Mridula Kandadai2, Sruthi Kola2
1Department of Neurology, Citi Neuro Centre, Miyapur, Hyderabad 500059 Telangana, India.
Clinical parkinsonism & related disorders
|January 6, 2026
まとめ
Blepharoclonus, an involuntary eye muscle twitch during voluntary closure, is linked to NBIA disorders. This study adds VAC14 gene mutations to the spectrum of conditions associated with this neurological symptom.
科学分野:
- Neurology
- Genetics
- Ophthalmology
背景:
- Blepharoclonus is characterized by brief, involuntary, clonic contractions of the orbicularis oculi muscles during voluntary eye closure.
- Neurodegeneration with Brain Iron Accumulation (NBIA) disorders, including Pantothenate Kinase-Associated Neurodegeneration (PKAN), PLA2G6-Associated Neurodegeneration (PLAN), and Kufor Rakeb disease, are known to be associated with blepharoclonus.
研究 の 目的:
- To investigate the association between VAC14 gene mutations and blepharoclonus.
- To expand the known phenotypic spectrum of NBIA disorders.
主な方法:
- Clinical case reporting and genetic analysis.
- Review of literature on NBIA disorders and blepharoclonus.
主要な成果:
- Blepharoclonus was observed in a patient with a confirmed VAC14 gene mutation.
- This finding suggests a potential link between VAC14 mutations and the development of blepharoclonus.
結論:
- The VAC14 gene should be considered in the genetic evaluation of patients presenting with blepharoclonus, particularly those with features suggestive of NBIA disorders.
- This report expands the phenotypic spectrum associated with NBIA, highlighting blepharoclonus as a potential clinical manifestation linked to VAC14 mutations.
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