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Article

Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2025

Alecu Julian E, Tam Amy, Richter Silja, Quiroz Vicente, Schierbaum Luca, Saffari Afshin, Ebrahimi-Fakhari Darius

Abstract excerpt

PURPOSE: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modeling the natural history, and uncovering...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 39731469
DOI: 10.1016/j.gim.2024.101349
PMCID: PMC11890929

Genes

HPDL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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