ArticleMovement disorders clinical practice2019
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.
Article in Movement disorders clinical practice, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- Aberrant immunomodulatory signature in β-propeller protein-associated neurodegeneration patient iPSC-derived microglia.Scientific reports · 2026Article
- Acidosis, Iron Dyshomeostasis and Inflammatory Injury.International journal of molecular sciences · 2026Review
- A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.Annals of clinical and translational neurology · 2026Article
- Genetic complexity in pediatric onset epilepsy-movement disorder syndromes: Insights from a cohort of 97 subjects.Epilepsia · 2026Article
- Patient-Derived Neurons Exhibit α-Synuclein Pathology and Previously Unrecognized Major Histocompatibility Complex Class I Elevation in Mitochondrial Membrane Protein-Associated Neurodegeneration.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- WDR45-related encephalopathy mimicking Leigh syndrome associated with complex I deficiency: a case report.European journal of human genetics : EJHG · 2025Article
- Comprehensive analysis of autophagic functions of WIPI family proteins and their implications for the pathogenesis of β-propeller associated neurodegeneration.Human molecular genetics · 2023Article
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Neuroimaging Pearls from the MDS Congress Video Challenge. Part 1: Genetic Disorders.Movement disorders clinical practice · 2022Review
- Neurodevelopmental Disorder and Late-Onset Degenerative Parkinsonism in a Patient with aMovement disorders clinical practice · 2022Article
- Review
- Cerebellar dentate nuclei swelling: a new and early magnetic resonance imaging finding of beta-propeller protein-associated neurodegeneration.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Article
- TheFrontiers in cell and developmental biology · 2021Review
- De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.Molecular genetics & genomic medicine · 2020Article
- Phenotypic and Imaging Spectrum Associated With WDR45.Pediatric neurology · 2020Article
- Brain MRI Pattern Recognition in Neurodegeneration With Brain Iron Accumulation.Frontiers in neurology · 2020Review
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
methodsMutations in
resultsPsychomotor delay and movement disorders were present in all cases; early-onset epileptic encephalopathy was present in 3. In all cases, first MRI showed: prominent bilateral SN enlargement, bilateral dentate nuclei T2-hyperintensity, and corpus callosum thinning. Iron deposition in the SN and globus pallidus (GP) only became evident later. Diffuse cerebral atrophy was present in 3 cases.
conclusionsIn this series, SN swelling and dentate nucleus T2 hyperintensity were early signs of BPAN, later followed by progressive iron deposition in the SN and GP. When clinical suspicion is raised, MRI is crucial for identifying early features suggesting this type of NBIA.
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Registered trials
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