Associated Papers
HPDL Variant Type Correlates With Clinical Disease Onset and Severity.
Lee EH et al.
Annals of Clinical and Translational Neurology, 2025
40368591 (PubMed )
Supplement: ACN3-12-1360-s001.pdf
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG83
Two novel heterozygous HPDL variants in a Chinese family with a neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities.
Ma Y et al.
Gene, 2025
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review.
Kojima F et al.
Neurogenetics, 2024
The Human Glyoxalase Gene Family in Health and Disease.
Farrera DO et al.
Chemical Research in Toxicology, 2022
Evidence that autosomal recessive spastic cerebral palsy-1 (CPSQ1) is caused by a missense variant in HPDL.
Morgan NV et al.
Brain Communications, 2021
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