Work

Blepharoclonus – a novel phenotypic association with a VAC14 variant

Year: 2025

Type: article

Abstract: • 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, VAC14 can also be added to the phenotype spectrum.

Source: Clinical Parkinsonism & Related Disorders

DOI: 10.1016/j.prdoa.2025.100386

Authors: Karri Madhavi, Rukmini Mridula Kandadai, Sruthi Kola, Rupam Borgohain, VVSRK Prasad

Institution: Yashoda Hospital

Language: English

Topic: Neurological diseases and metabolism

Subfield: Neurology

Field: Neuroscience

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,730