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Article

HPDL Biallelic Variants in Cerebral Palsy and Childhood‐Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights

28 Jul 2025

Abstract excerpt

BACKGROUND: The human 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) has been linked to hereditary spastic paraplegia (HSP) with potential roles in neurogenesis and energy metabolism. However, the prevalence of HPDL variants in childhood-onset motor impairments remains unclear. OBJECTIVE: This study set out to characterize new patients with biallelic HPDL variants, and to explore the role of this protein...

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PMID: 40719007
DOI: 10.1002/mds.30296

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HPDL Biallelic Variants in Cerebral Palsy and Childhood‐Onset Hereditary Spastic Paraplegia: Human and Zebrafish InsightsPMID 40719007Read ↗

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