ArticlePediatric neurology2020
Phenotypic and Imaging Spectrum Associated With WDR45.
Article in Pediatric neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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Who cites it
19 citing papers in PubMed, 42 citations in OpenAlex.
- Early Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights From a Korean Series.Journal of movement disorders · 2026Article
- Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).Molecular genetics and metabolism · 2025Observational
- WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.European journal of human genetics : EJHG · 2025Article
- Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration.International journal of molecular sciences · 2025Article
- Mutation inFrontiers in neuroscience · 2025Article
- Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.Journal of child neurology · 2025Article
- Article
- X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.Movement disorders clinical practice · 2024Review
- Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.Molecular genetics and metabolism · 2024Review
- Identification of skewed X chromosome inactivation using exome and transcriptome sequencing in patients with suspected rare genetic disease.BMC genomics · 2024Article
- A burning question from the first international BPAN symposium: is restoration of autophagy a promising therapeutic strategy for BPAN?Autophagy · 2023Article
- Variants in the WDR45 Gene Within the OPA-2 Locus Associate With Isolated X-Linked Optic Atrophy.Investigative ophthalmology & visual science · 2023Article
- Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN.International journal of molecular sciences · 2023Article
- Quantitative retrospective natural history modeling ofAutophagy · 2022Article
- A conserved ATG2 binding site in WIPI4 and yeast Hsv2 is disrupted by mutations causing β-propeller protein-associated neurodegeneration.Human molecular genetics · 2021Article
- Review
- Homozygous missenseBrain communications · 2021Article
- TheFrontiers in cell and developmental biology · 2021Review
- Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).Molecular genetics and metabolismArticle
Corrections and comments
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Authors and funding
22 authors at 9 institutions in 4 countries.
Funding
Abstract
backgroundMutations in the X-linked gene WDR45 cause neurodegeneration with brain iron accumulation type 5. Global developmental delay occurs at an early age with slow progression to dystonia, parkinsonism, and dementia due to progressive iron accumulation in the brain.
methodsWe present 17 new cases and reviewed 106 reported cases of neurodegeneration with brain iron accumulation type 5. Detailed information related to developmental history and key time to event measures was collected.
resultsWithin this cohort, there were 19 males. Most individuals were molecularly diagnosed by whole-exome testing. Overall 10 novel variants were identified across 11 subjects. All individuals were affected by developmental delay, most prominently in verbal skills. Most individuals experienced a decline in motor and cognitive skills. Although most individuals were affected by seizures, the spectrum ranged from provoked seizures to intractable epilepsy. The imaging findings varied as well, often evolving over time. The classic iron accumulation in the globus pallidus and substantia nigra was noted in half of our cohort and was associated with older age of image acquisition, whereas myelination abnormalities were associated with younger age.
conclusionsWDR45 mutations lead to a progressive and evolving disorder whose diagnosis is often delayed. Developmental delay and seizures predominate in early childhood, followed by a progressive decline of neurological function. There is variable expressivity in the clinical phenotypes of individuals with WDR45 mutations, suggesting that this gene should be considered in the diagnostic evaluation of children with myelination abnormalities, iron deposition, developmental delay, and epilepsy depending on the age at evaluation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.