Expanding the Phenotypic Horizon of VAC14-Related Neurodegeneration

Mov Disord Clin Pract. 2025 May 19. doi: 10.1002/mdc3.70127. Online ahead of print.

Authors

Sayoni Roy Chowdhury¹, Trisha Singh¹, Rashmi Meena¹, Jacky Ganguly², Suvasini Sharma¹

Affiliations

¹ Department of Paediatrics, Lady Hardinge Medical College and Associated Kalawati Saran Children's Hospital, New Delhi, India.
² Movement Disorder Centre, Department of Neurology, Institute of Neurosciences Kolkata, Kolkata, India.

PMID: 40387296
DOI: 10.1002/mdc3.70127

No abstract available

Keywords: VAC14; facial myoclonus; neurodegeneration with brain iron accumulation (NBIA); striatal hyperintensities; truncal dystonia.

Publication types

Letter