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Beta-propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation
Open accessAbstract
Neurodegenerative disorders with high iron in the basal ganglia encompass an expanding collection of single gene disorders collectively known as neurodegeneration with brain iron accumulation. These disorders can largely be distinguished from one another by their associated clinical and neuroimaging features. The aim of this study was to define the phenotype that is associated with mutations in WDR45, a new causative gene for neurodegeneration with brain iron accumulation located on the X chromosome. The study subjects consisted of WDR45 mutation-positive individuals identified after screening a large international cohort of patients with idiopathic neurodegeneration with brain iron accumulation. Their records were reviewed, including longitudinal clinical, laboratory and imaging data. Twenty-three mutation-positive subjects were identified (20 females). The natural history of their disease was remarkably uniform: global developmental delay in childhood and further regression in early adulthood with progressive dystonia, parkinsonism and dementia. Common early comorbidities included seizures, spasticity and disordered sleep. The symptoms of parkinsonism improved with l-DOPA; however, nearly all patients experienced early motor fluctuations that quickly progressed to disabling dyskinesias, warranting discontinuation of l-DOPA. Brain magnetic resonance imaging showed iron in the substantia nigra and globus pallidus, with a 'halo' of T1 hyperintense signal in the substantia nigra. All patients harboured de novo mutations in WDR45, encoding a beta-propeller protein postulated to play a role in autophagy. Beta-propeller protein-associated neurodegeneration, the only X-linked disorder of neurodegeneration with brain iron accumulation, is associated with de novo mutations in WDR45 and is recognizable by a unique combination of clinical, natural history and neuroimaging features.
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“Brain imaging shows iron accumulation in the substantia nigra and globus pallidus of patients with β-propeller protein-associated neurodegeneration.183”
From The role of iron in brain ageing and neurodegenerative disorders (2014) · cites this paper as [183]
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A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
SIFT: predicting amino acid changes that affect protein function
Ng, P. C. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg509 · Cited by 6,601
Antimicrobial Autophagy: A Conserved Innate Immune Response in Drosophila
Moy, R. H., & Cherry, S. R. (2013) · Journal of Innate Immunity · doi:10.1159/000350326 · Cited by 3,551
Network organization of the human autophagy system
Behrends, C., Sowa, M. E., Gygi, S. P., & Harper, J. W. (2010) · Nature · doi:10.1038/nature09204 · Cited by 1,554
Capriotti, E., Calabrese, R., & Casadio, R. (2006) · Bioinformatics · doi:10.1093/bioinformatics/btl423 · Cited by 940
PMUT: a web-based tool for the annotation of pathological mutations on proteins
Ferrer‐Costa, C., Gelpí, J. L., Zamakola, L., Parraga, I., de la Cruz, X., & Orozco, M. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti486 · Cited by 495
Clinical and genetic delineation of neurodegeneration with brain iron accumulation
Gregory, A., Polster, B. J., & Hayflick, S. J. (2009) · Journal of Medical Genetics · doi:10.1136/jmg.2008.061929 · Cited by 364
Self-citationHaack, T. B., Hogarth, P., Kruer, M. C., Gregory, A., Wieland, T., Schwarzmayr, T., Graf, E., Sanford, L., Meyer, E., Kara, E., et al. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2012.10.019 · Cited by 360
Self-citationParamagnetic metal scavenging by melanin: MR imaging.
Enochs, W. S., Petherick, P., Bogdanova, A., Möhr, U., & Weissleder, R. (1997) · Radiology · doi:10.1148/radiology.204.2.9240529 · Cited by 289
Zhang, W., Phillips, K., Wielgus, A. R., Liu, J., Albertini, A., Zucca, F. A., Faust, R., Qian, S. Y., Miller, D. S., Chignell, C. F., et al. (2011) · Neurotoxicity Research · doi:10.1007/s12640-009-9140-z · Cited by 257
Faucheux, B. A., Martin, M., Beaumont, C., Hauw, J., Agid, Y., & Hirsch, E. C. (2003) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2003.01923.x · Cited by 229
Neuroimaging Features of Neurodegeneration with Brain Iron Accumulation
Kruer, M. C., Boddaert, N., Schneider, S. A., Houlden, H., Bhatia, K. P., Gregory, A., Anderson, J. C., Rooney, W. D., Hogarth, P., & Hayflick, S. J. (2011) · American Journal of Neuroradiology · doi:10.3174/ajnr.a2677 · Cited by 218
Self-citationHogarth, P., Gregory, A., Kruer, M. C., Sanford, L., Wagoner, W., Natowicz, M. R., Egel, R. T., Subramony, S. H., Goldman, J. G., Berry‐Kravis, E., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e31827e07be · Cited by 179
Self-citationIntracranial Lesions with High Signal Intensity on T1-weighted MR Images: Differential Diagnosis
Ginat, D. T., & Meyers, S. P. (2012) · Radiographics · doi:10.1148/rg.322105761 · Cited by 165
Kruer, M. C., Hiken, M., Gregory, A., Malandrini, A., Clark, D., Hogarth, P., Grafe, M. R., Hayflick, S. J., & Woltjer, R. L. (2011) · Brain · doi:10.1093/brain/awr042 · Cited by 126
Self-citationGenetics of neurodegeneration with brain iron accumulation
Gregory, A., & Hayflick, S. J. (2011) · Current Neurology and Neuroscience Reports · doi:10.1007/s11910-011-0181-3 · Cited by 104
Self-citationEgan, R. A., Weleber, R. G., Hogarth, P., Gregory, A., Coryell, J. C., Westaway, S. K., Gitschier, J. M., Das, S., & Hayflick, S. J. (2005) · American Journal of Ophthalmology · doi:10.1016/j.ajo.2005.03.024 · Cited by 98
Self-citationPantothenate Kinase-Associated Neurodegeneration
Hartig, M., Prokisch, H., Meitinger, T., & Klopstock, T. (2012) · Current Drug Targets · doi:10.2174/138945012802002384 · Cited by 63
Self-citationAutophagy impairment: a crossroad between neurodegeneration and tauopathies
Nassif, M., & Hetz, C. A. (2012) · BMC Biology · doi:10.1186/1741-7007-10-78 · Cited by 33
Pantothenate Kinase-Associated Neurodegeneration (PKAN)
Hayflick, S. J. (2005) · CRC Press eBooks · doi:10.1201/b14120-53 · Cited by 31
Gregory, A., & Hayflick, S. J. (2006) · PubMed · Cited by 4
Self-citationPantothenate kinase-associated neurodegeneration
Laique, K. (2022) · Radiopaedia.org · doi:10.53347/rid-97569 · Cited by 2
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1 of the 23 references couldn’t be matched to a known paper.
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Ward, R. J., Zucca, F. A., Duyn, J. H., Crichton, R. R., & Zecca, L. (2014) · The Lancet Neurology · doi:10.1016/s1474-4422(14)70117-6 · Cited by 1,819
Jiang, P., & Mizushima, N. (2013) · Cell Research · doi:10.1038/cr.2013.161 · Cited by 781
Autophagy genes in biology and disease
Yamamoto, H., Zhang, S., & Mizushima, N. (2023) · Nature Reviews Genetics · doi:10.1038/s41576-022-00562-w · Cited by 650
Neurodegeneration with brain iron accumulation
Hayflick, S. J., Kurian, M. A., & Hogarth, P. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00019-1 · Cited by 323
Self-citationX-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes
Hu, H., Haas, S. A., Chelly, J., Esch, H. V., Raynaud, M., de Brouwer, A. P. M., Weinert, S., Froyen, G., Frints, S. G. M., Laumonnier, F., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2014.193 · Cited by 317
Metadata
- Authors
- Hayflick, S. J., Kruer, M. C., Gregory, A., Haack, T. B., Kurian, M. A., Houlden, H. H., Anderson, J., Boddaert, N., Sanford, L., Harik, S. I., Dandu, V. H., Nardocci, N., Zorzi, G., Dunaway, T., Tarnopolsky, M., Skinner, S., Holden, K. R., Frucht, S., Hanspal, E., Schrander-Stumpel, C., Mignot, C., Héron, D., Saunders, D. E., Kaminska, M., Lin, J.-P., Lascelles, K., Cuno, S. M., Meyer, E., Garavaglia, B., Bhatia, K., de Silva, R., Crisp, S., Lunt, P., Carey, M., Hardy, J., Meitinger, T., Prokisch, H., & Hogarth, P.
- Affiliations
- Oregon Health & Science University (US)
- Helmholtz Munich (DE)
- Great Ormond Street Hospital (GB)
- Hôpital Necker-Enfants Malades (FR)
- UCL Queen Square Institute of Neurology (GB)
- McMaster University Medical Centre (CA)
- Albany Medical College (US)
- Pitié-Salpêtrière Hospital (FR)
- University of South Dakota (US)
- Queen's Hospital (GB)
- University Hospitals Bristol NHS Foundation Trust (GB)
- University Hospitals Birmingham NHS Foundation Trust (GB)
- Corresponding author
- Hayflick, Susan J.
- ORCID
- Hayflick, Susan J.
- Kruer, Michael C.
- Gregory, Allison
- Haack, Tobias B.
- Kurian, Manju A.
- Houlden, Henry H.
- Anderson, James
- Boddaert, Nathalie
- Sanford, Lynn
- Nardocci, Nardo
- Zorzi, Giovanna
- Tarnopolsky, Mark
- Skinner, Steven
- Frucht, Steven
- Mignot, Cyril
- Héron, Delphine
- Saunders, Dawn E.
- Kaminska, Margaret
- Lin, Jean-Pierre
- Lascelles, Karine
- Meyer, Esther
- Garavaglia, Barbara
- Bhatia, Kailash
- Crisp, Sarah
- Lunt, Peter
- Hardy, John
- Meitinger, Thomas
- Prokisch, Holger
- Hogarth, Penelope
- Venue
- Brain
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-05-17
- Volume
- 136
- Issue
- 6
- Pages
- 1708-1717
- ISSN
- 0006-8950 (ISSN-L)
- 1460-2156
- PMC
- PMC3673459
- OpenAlex
- W2159322366
- Cited by
- 250
- References
- 23
- Citations by year
- 2026: 8 · 2025: 19 · 2024: 16 · 2023: 12 · 2022: 16 · 2021: 21 · 2020: 21 · 2019: 20 · 2018: 20 · 2017: 27 · 2016: 16 · 2015: 30 · 2014: 17 · 2013: 6
- FWCI
- 12.88
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Brain (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Research Publications (Maastricht University) (publishedVersion, other-oa)
- Research Portal (King's College London) (publishedVersion, other-oa)
- UCL Discovery (University College London) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Research Publications (Maastricht University) (submittedVersion, other-oa)
- Funders
- Parkinson's Disease Foundation
- Dystonia Medical Research Foundation
- Child Neurology Foundation
- University of Dundee
- NBIA Disorders Association
- Wellcome Trust (FP7/2007–2013)
- Action Medical Research
- Brain Research Trust
- European Commission (2007–2013, FP7 2007-2013, 261123, 277984, FP7/2007)
- Bundesministerium für Bildung und Forschung (01GR0804-4, SysMBo 0315494A, 01GR0804, 01GM0867, 0315494A)
- National Institutes of Health (277984, UL1TR000128, FP7/2007-2013, HEALTH-F2-2011, RR024140)
- Oregon Clinical and Translational Research Institute (UL1RR024140, RR024140, UL1 RR024140 NCRR)
- Medical Research Council (FP7/20072013, MR/J004758/1)
- National Institute of Neurological Disorders and Stroke (K08NS083739)
- National Center for Research Resources (UL1 RR024140 NCRR, UL1RR024140, RR024140)
- National Center for Advancing Translational Sciences
- Topics
- Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
- Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
- Health Sciences › Medicine › Clinical Neurology › Parkinson's Disease Mechanisms and Treatments
- Keywords
- beta-propeller protein-associated neurodegeneration, WDR45, neurodegeneration with brain iron accumulation, X-linked dominant disorder, de novo mutations, beta-propeller proteins, autophagy, basal ganglia iron accumulation, parkinsonism, dystonia, dementia, developmental delay, levodopa response, dyskinesia, substantia nigra, globus pallidus, natural history (disease)
- MeSH terms
- Adolescent, Adult, Brain, Carrier Proteins, Female, Humans, Iron, Male, Middle Aged, Mutation, Cohort Studies, Neurodegenerative Diseases, Genetic Diseases, X-Linked, Young Adult
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