Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia

Mov Disord Clin Pract. 2024 Dec;11(12):1620-1624. doi: 10.1002/mdc3.14226. Epub 2024 Oct 5.

Authors

Luca Schierbaum¹, Vicente Quiroz¹, Amy Tam¹, Umar Zubair¹, Laura Tochen², Rasha Srouji¹, Kathryn Yang¹, Darius Ebrahimi-Fakhari¹

Affiliations

¹ Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.
² Department of Neurology, Children's National Hospital, Washington, DC, USA.

PMID: 39367686
PMCID: PMC11648031 (available on 2025-10-05)
DOI: 10.1002/mdc3.14226

No abstract available

Keywords: coenzyme Q; hereditary spastic paraplegia; inborn error of metabolism; mitochondrial disease; spastic paraplegia.

Publication types

Case Reports