Research & Literature

High frequency of beta-propeller protein-associated neurodegeneration (BPAN) among patients with intellectual disability and young-onset parkinsonism.

Nishioka K, Oyama G, Yoshino H, et al.

Neurobiology of aging 2015; (36(5)):2004.e9-2004.e15.

The autophagy gene Wdr45/Wipi4 regulates learning and memory function and axonal homeostasis.

Zhao YG, Sun L, Miao G, et al.

Autophagy 2015; (11(6)):881-90 doi:10.1080/15548627.2015.1047127.

Lessons from a pair of siblings with BPAN.

Zarate YA, Jones JR, Jones MA, et al.

European journal of human genetics : EJHG 2016; (24(7)):1080-3 doi:10.1038/ejhg.2015.242.

Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.

Xixis KI, Mikati MA

Epileptic disorders : international epilepsy journal with videotape 2015; (17(4)):467-72 doi:10.1684/epd.2015.0784.

WDR45 mutations in Rett (-like) syndrome and developmental delay: Case report and an appraisal of the literature.

Hoffjan S, Ibisler A, Tschentscher A, et al.

Molecular and cellular probes 2016; (30(1)):44-9.

Beta Propellar Protein-Associated Neurodegeneration: A Rare Cause of Infantile Autistic Regression and Intracranial Calcification.

Yoganathan S, Arunachal G, Sudhakar SV, et al.

Neuropediatrics 2016; (47(2)):123-7 doi:10.1055/s-0035-1571189.

[A woman with beta-propeller protein-associated neurodegeneration identified by the WDR45 mutation presenting as Rett-like syndrome in childhood].

Morisada N, Tsuneishi S, Taguchi K, et al.

No to hattatsu = Brain and development 2016; (48(3)):209-12.

A novel WDR45 mutation in a patient with β-propeller protein-associated neurodegeneration.

Wynn DP, Pulst SM

Neurology. Genetics 2017; (3(1)):e124 doi:10.1212/NXG.0000000000000124.

Clinical features of a female with WDR45 mutation complicated by infantile spasms: a case report and literature review.

Morikawa M, Takano K, Motobayashi M, et al.

Brain & development 2017; (39(9)):804-807 doi:10.1016/j.braindev.2017.05.003.

WIPI3 and WIPI4 β-propellers are scaffolds for LKB1-AMPK-TSC signalling circuits in the control of autophagy.

Bakula D, Müller AJ, Zuleger T, et al.

Nature communications 2017; (8()):15637 doi:10.1038/ncomms15637.

Patient Affected by Beta-Propeller Protein-Associated Neurodegeneration: A Therapeutic Attempt with Iron Chelation Therapy.

Fonderico M, Laudisi M, Andreasi NG, et al.

Frontiers in neurology 2017; (8()):385 doi:10.3389/fneur.2017.00385.

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45.

Carvill GL, Liu A, Mandelstam S, et al.

Epilepsia 2018; (59(1)):e5-e13 doi:10.1111/epi.13957.

Functional mRNA analysis reveals aberrant splicing caused by novel intronic mutation in WDR45 in NBIA patient.

Willoughby J, Duff-Farrier C, Desurkar A, et al.

American journal of medical genetics. Part A 2018; (176(5)):1049-1054 doi:10.1002/ajmg.a.38656.

A Patient with Beta-Propeller Protein-Associated Neurodegeneration: Treatment with Iron Chelation Therapy.

Lim SY, Tan AH, Ahmad-Annuar A, et al.

Journal of movement disorders 2018; (11(2)):89-92 doi:10.14802/jmd.17082.

Early onset developmental delay and epilepsy in pediatric patients with WDR45 variants.

Chen H, Qian Y, Yu S, et al.

European journal of medical genetics 2019; (62(2)):149-160 doi:10.1016/j.ejmg.2018.07.002.

Ocular and systemic manifestations of beta-propeller protein-associated neurodegeneration.

Tiedemann LM, Reed D, Joseph A, Yoo SH

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus 2018; (22(5)):403-405 doi:10.1016/j.jaapos.2018.03.013.

Beta-propeller protein-associated neurodegeneration (BPAN) as a genetically simple model of multifaceted neuropathology resulting from defects in autophagy.

Hor CHH, Tang BL

Reviews in the neurosciences 2019; (30(3)):261-277.

Ischemic Fasciitis of the Left Buttock in a 40-Year-Old Woman with Beta-Propeller Protein-Associated Neurodegeneration (BPAN).

Sakamoto A, Arai R, Okamoto T, et al.

The American journal of case reports 2018; (19()):1249-1252 doi:10.12659/AJCR.911300.

Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated Neurodegeneration.

Russo C, Ardissone A, Freri E, et al.

Movement disorders clinical practice 2019; (6(1)):51-56 doi:10.1002/mdc3.12693.

WDR45 contributes to neurodegeneration through regulation of ER homeostasis and neuronal death.

Wan H, Wang Q, Chen X, et al.

Autophagy 2020; (16(3)):531-547 doi:10.1080/15548627.2019.1630224.

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum.

Chard M, Appendino JP, Bello-Espinosa LE, et al.

Molecular genetics and metabolism reports 2019; (20()):100483 doi:10.1016/j.ymgmr.2019.100483.

Childhood Dystonia-Parkinsonism Following Infantile Spasms-Clinical Clue to Diagnosis in Early Beta-Propeller Protein-Associated Neurodegeneration.

Hornemann F, Le Duc D, Roth C, et al.

Neuropediatrics 2020; (51(1)):22-29 doi:10.1055/s-0039-1696688.

Early-onset presentation of a new subtype of β-Propeller protein-associated neurodegeneration (BPAN) caused by a de novo WDR45 deletion in a 6 year-old female patient.

Christoforou S, Christodoulou K, Anastasiadou V, Nicolaides P

European journal of medical genetics 2020; (63(3)):103765 doi:10.1016/j.ejmg.2019.103765.

Beta-Propeller Protein-Associated Neurodegeneration (BPAN) Detected in a Child with Epileptic Spasms.

Kaleka G, McCormick ME, Krishnan A

Cureus 2019; (11(8)):e5404 doi:10.7759/cureus.5404.

Palliative care in 9 children with neurodegeneration with brain iron accumulation.

Dangel T, Kmieć T, Januszaniec A, Ważny B

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(3)):653-660 doi:10.1007/s10072-019-04099-5.

Serial MRI alterations of pediatric patients with beta-propeller protein associated neurodegeneration (BPAN).

Kimura Y, Sato N, Ishiyama A, et al.

Journal of neuroradiology = Journal de neuroradiologie 2021; (48(2)):88-93 doi:10.1016/j.neurad.2020.04.002.

Phenotypic and Imaging Spectrum Associated With WDR45.

Adang LA, Pizzino A, Malhotra A, et al.

Pediatric neurology 2020; (109()):56-62 doi:10.1016/j.pediatrneurol.2020.03.005.

Clinical features and blood iron metabolism markers in children with beta-propeller protein associated neurodegeneration.

Belohlavkova A, Sterbova K, Betzler C, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2020; (28()):81-88 doi:10.1016/j.ejpn.2020.07.010.

De novo variants in WDR45 underlie beta-propeller protein-associated neurodegeneration in five independent families.

Tang X, Lan X, Song X, et al.

Molecular genetics & genomic medicine 2020; (8(11)):e1499 doi:10.1002/mgg3.1499.

Beta-propeller protein-associated neurodegeneration presenting Rett-like features: A case report and literature review.

Kano K, Yamanaka G, Muramatsu K, et al.

American journal of medical genetics. Part A 2021; (185(2)):579-583 doi:10.1002/ajmg.a.61993.

Early-Onset Parkinsonism and Halo Sign: Beta-propeller Proteinassociated Neurodegeneration.

Samanta D, Ramakrishnaiah R

Journal of pediatric neurosciences 2020; (15(3)):325-327 doi:10.4103/jpn.JPN_62_20.

β-propeller proteins WDR45 and WDR45B regulate autophagosome maturation into autolysosomes in neural cells.

Ji C, Zhao H, Chen D, et al.

Current biology : CB 2021; (31(8)):1666-1677.e6 doi:10.1016/j.cub.2021.01.081.

Consensus clinical management guideline for beta-propeller protein-associated neurodegeneration.

Wilson JL, Gregory A, Kurian MA, et al.

Developmental medicine and child neurology 2021; (63(12)):1402-1409 doi:10.1111/dmcn.14980.

Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy - a systematic cross-sectional analysis of 160 published cases.

Saffari A, Schröter J, Garbade SF, et al.

Autophagy 2022; (18(7)):1715-1727 doi:10.1080/15548627.2021.1990671.

Seizure in Neurodegeneration with Brain Iron Accumulation: A Systematic Review.

Emamikhah M, Saiyarsarai P, Schneider SA, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2023; (50(1)):60-71 doi:10.1017/cjn.2021.502.

Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN).

Gavazzi F, Pierce SR, Vithayathil J, et al.

Molecular genetics and metabolism 2022; (137(1-2)):26-32 doi:10.1016/j.ymgme.2022.07.009.

Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration.

Diaw SH, Ganos C, Zittel S, et al.

International journal of molecular sciences 2022; (23(17)) doi:10.3390/ijms23179524.

Expanding the Spectrum of Early Neuroradiologic Findings in β Propeller Protein-Associated Neurodegeneration.

Papandreou A, Soo AKS, Spaull R, et al.

AJNR. American journal of neuroradiology 2022; (43(12)):1810-1814 doi:10.3174/ajnr.A7693.

WDR45 variants cause ferrous iron loss due to impaired ferritinophagy associated with nuclear receptor coactivator 4 and WD repeat domain phosphoinositide interacting protein 4 reduction.

Tsukida K, Muramatsu SI, Osaka H, et al.

Brain communications 2022; (4(6)):fcac304 doi:10.1093/braincomms/fcac304.

Pathological characteristics of axons and proteome patterns in midbrain dopaminergic neurodegeneration induced by WDR45-deficiency.

Le W, Wang P, Al-Nusaif M, et al.

Research square 2023; doi:10.21203/rs.3.rs-2901370/v1.

Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN.

Suárez-Carrillo A, Álvarez-Córdoba M, Romero-González A, et al.

International journal of molecular sciences 2023; (24(19)) doi:10.3390/ijms241914576.

L-serine restored lysosomal failure in cells derived from patients with BPAN reducing iron accumulation with eliminating lipofuscin.

Lee HE, Jung M, Choi K, et al.

Free radical biology & medicine 2024; (221()):273-282 doi:10.1016/j.freeradbiomed.2024.05.017.

A Case of Beta-Propeller Protein-Associated Neurodegeneration With a Unique Truncating Variant in the WDR45 Gene and Uncommon Clinical and Radiologic Findings.

Esbit S, Sidlow R

Cureus 2024; (16(4)):e58127 doi:10.7759/cureus.58127.

The Clinical, Radiological and Genetic Spectrum of PLA2G6-Associated Neurodegeneration: An Experience From a Tertiary Center.

Holla VV, Samim MM, Kumari R, et al.

Tremor and other hyperkinetic movements (New York, N.Y.) 2024; (14()):41 doi:10.5334/tohm.897.

Metabolic impairments in neurodegeneration with brain iron accumulation.

Wydrych A, Pakuła B, Janikiewicz J, et al.

Biochimica et biophysica acta. Bioenergetics 2025; (1866(1)):149517 doi:10.1016/j.bbabio.2024.149517.

Determination of Health Concepts in β-Propeller Protein-Associated Neurodegeneration.

Kotes E, Gavazzi F, Woidill S, et al.

Journal of child neurology 2025; (40(1)):15-25 doi:10.1177/08830738241283932.

WDR45 variants as a major cause for a clinically variable intellectual disability syndrome from early infancy in females.

Abe-Hatano C, Inoue K, Takeshita E, et al.

Journal of medical genetics 2024; (61(12)):1119-1122 doi:10.1136/jmg-2024-110068.

AAV-Mediated Gene Transfer of WDR45 Corrects Neurological Deficits in the Mouse Model of Beta-Propeller Protein-Associated Neurodegeneration.

Carisi MC, Shamber C, Bishop M, et al.

Human gene therapy 2025; (36(5-6)):637-652 doi:10.1089/hum.2024.224.

A Comprehensive Overview of the Clinical, Electrophysiological, and Neuroimaging Features of BPAN: Insights From a New Case Series.

Susgun S, Kizek O, Ugur Iseri SA, et al.

Annals of clinical and translational neurology 2026; (13(3)):453-465 doi:10.1002/acn3.70220.

Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN).

Gavazzi F, Pierce SR, Smith V, et al.

Molecular genetics and metabolism 2025; (146(3)):109253 doi:10.1016/j.ymgme.2025.109253.

Early Phenotypic Features of Beta-Propeller Protein-Associated Neurodegeneration: Insights From a Korean Series.

Kim YS, Kim SY, Lee YJ, et al.

Journal of movement disorders 2026; (19(2)):187-191 doi:10.14802/jmd.25281.

Generation of two human iPSC lines from fibroblasts of BPAN patients carrying pathogenic variants in the WDR45 gene.

Gasparini G, Kraus C, Rusha E, et al.

Stem cell research 2026; (90()):103892 doi:10.1016/j.scr.2025.103892.

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments.

Schneider SA, Garg D, Iankova V, Klopstock T

Movement disorders clinical practice 2026; doi:10.1002/mdc3.70736.

An Autopsy Report of Beta-Propeller Protein-Associated Neurodegeneration with 68-Year Survival, Focusing on Isoform-Specific Distribution of Hyperphosphorylated Tau.

Kai T, Tominaga K, Matsunaga A, et al.

Reports (MDPI) 2026; (9(3)) doi:10.3390/reports9030209.